Genetics

When it comes to pit bulls, you cant ignore genetics: Carol Miller – cleveland.com

Guest columnist Carol Miller is an animal lover and proponent of responsible pet ownership.

I just read your sweet story about the adopted pit bull. You asked for stories from readers about their own animals. Here is mine.

I have a Paint Horse named Blue. His looks and talent should have taken him to a career in the show pen, but his show prospects ended with a pit bull attack in the Cleveland Metroparks in 2007. Blue was mauled during an attack that lasted for 20 minutes and covered a mile. Hundreds of horrified park patrons witnessed the attack.

Blue lived, but he is no longer sound; he is a 1,000-pound pet. I required major surgery to control the pain caused by the injuries I suffered during the attack

When you write the soft stories on rescued pit bulls, you ignore genetics. Dogs are purpose-bred.

Border collies herd instinctively. Training can sharpen those skills, but they are bred into the dog.

Pointer pups will point at a feather on a string held by the proud owner of a litter. Training sharpens the skills, but nobody has to get down on their hands and knees to hold the little puppys legs in position until they get the idea. The skill is bred into the dog.

Bloodhounds track because they are bred to do so. Livestock guardian breeds do that job without fuss.

Pit bulls were bred for an activity so violent that it is a felony in all 50 states. The criteria for inclusion into the breed/type gene pool was the drive and ability to attack unprovoked and to continue that behavior until death occurs. Pit bulls are blood sport dogs. DNA is real.

American shelters are drowning in pit bulls. Most shelters harbor as high as 90 percent pit bulls. Look at the dogs available at the City of Cleveland shelter. Last time I did this, I found roughly 90 pit bulls and three or four other dogs.

There is no demand for those pit bulls, and many of them are warehoused for months to years waiting for placement. Is this humane?

I have a number that I consider significant. That number is how many Americans have been killed by pit bulls since the date of my own attack in 2007. Sadly, that number changes regularly.

The number stands at 364 as of Nov. 4. That is 364 Americans killed in 14 years.

A great deal of research has been done on pit bull-attack fatalities, and that research goes back to the first documented pit bull fatality in the United States back in 1833. From that first fatality, it took pit bulls 174 years to kill 291 Americans (up to the date of my attack). And in the 14 years since, pit bulls have killed an additional 364 Americans.

What happened in 2007 to kick off this bloodbath? The Michael Vick case brought pit bulls into the public eye, and those looking for profit seized the opportunity. The rest is history.

The date of my attack is my personal choice, but pick any date you like. The numbers dont change much.

Please give the downside as well as the upside when you share stories about pit bulls. The safety of the peaceful public should be considered. Humane treatment of the dogs should be considered.

Neuter and spay would be the best thing ever for pit bulls and would have been appropriate for inclusion into your article. Dogs that are not conceived do not suffer.

Readers are invited to submit Opinion page essays on topics of regional or general interest. Send your 500-word essay for consideration to Ann Norman at anorman@cleveland.com. Essays must include a brief bio and headshot of the writer. Essays rebutting todays topics are also welcome.

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When it comes to pit bulls, you cant ignore genetics: Carol Miller - cleveland.com

Genetics

Greater risk to COVID-19 associated with genetics, systemic factors – UW Badger Herald

The amount of data accumulated since the start of the pandemic in March 2020 continues to grow along with COVID-19 deaths and vaccination rates. Data in regards to COVID-19 can be about numerous consequences of the virus including infection rates, death rates and hospitalization numbers, all of which can vary by state, county or even race. While it is important to use this information to understand how different communities and regions are impacted by the pandemic, experts emphasize taking into account the systemic factors that affect various populations.

An article from The Guardian talks about a gene scientists have identified which may be a factor in increased risk of COVID-19 death among certain populations. The gene, called LZTFL1, was found to drastically increase chances of respiratory failure and ultimately death when an individual is exposed to the coronavirus.

The gene was primarily linked to people of south Asian descent up to a staggering 60% of the population a reason why this population has seen higher death rates from the virus, according to The Guardian.

UPDATED: FDA authorizes booster shots for Moderna, Johnson & Johnson and mixing vaccinesAllowing the opportunity to strengthen the immunization of those vaccinated for COVID-19 over six months, the Food and Drug Administration Read

Though, there are numerous factors that play into why an individual dies from COVID-19, and not everyone agrees that it is necessarily fair to assign genetics as the sole cause of COVID-19 complications and related deaths.

Ajay Sethi is a population health sciences professor and researcher in the broad field of infectious diseases at the University of Wisconsin. He said the learning about all factors that contribute to different COVID-19 responses in people is crucial.

Understanding the genetics of infectious diseases can lead to new therapeutics and tools to screen people, something the authors mention in their original research, Sethi said. It would be important to have a better understanding of who is at higher risk for infection or severe illness and who may be protected from these things.

An article from the CDC talks about potential reasons other than genetics that increase risk for COVID-19 deaths specifically in racial minority groups. Lack of access to proper healthcare, living below the poverty line and working in professions deemed essential in the height of the pandemic are all factors that contribute to higher COVID-19 cases and death rates, according to the CDC.

UWs Science Writer in Residence cautions journalists about obligations during pandemicThe spread of misinformation is nothing new in the world of science. But as the pandemic persists along with the Read

We can work on alleviating the systemic factors that lead to greater risk of SARS-CoV-2 infection, COVID-19 illness, and death and we should also gain a better understanding of the complex biology of this disease to help society better manage the pandemic in the future Sethi said.

While genetic factors are important to learn about to gain a deeper understanding of potential treatments and preventions, addressing systemic pitfalls is equally important in the fight against the pandemic.

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Greater risk to COVID-19 associated with genetics, systemic factors - UW Badger Herald

Genetics

Is every gene associated with cancer? – Medical News Today

Cancer is, far and away, the most widely researched biological or biomedical topic, and for a good reason. In the United Kingdom, cancer will affect 1 out of every 2 people at some time in their lives.

However, a new analysis of the PubMed library of biomedical research literature finds that the search for connections between genes and cancer has created an overabundance of reported associations, making new research even more difficult.

At this point, almost all human genes have a connection with cancer in one way or another.

According to the article, which appears in Trends In Genetics, the PubMed library holds at least one paper on 17,371 human genes. Of these, 87.7% mention cancer in at least one publication.

Of the 4,186 genes that are the subjects of 100 or more PubMed articles, only three genes have no associations with cancer.

The author of the new paper, Dr. Joo Pedro de Magalhes of the University of Liverpool in the U.K., writes, An incredible 24.4% of all publications associated with genes in PubMed mention cancer.

Dr. de Magalhes suspects this wealth of associations has to do with how relatively easy it is to perform cancer research from a genetic perspective:

Compared with other common diseases, such as heart or neurodegenerative diseases, cancer is also seemingly more straightforward to study, given the wide availability of materials, such as cell lines.

In other words, the experimental methods necessary to study cancer seem to have lower technical limitations compared with many other disease scenarios.

The many connections cited in research imply that nearly all genes are involved in cancer, which is improbable, asserts Dr. de Magalhes.

Associations are not necessarily evidence of actual causal relationships, so much of this research may amount to unhelpful statistical noise that makes productive analysis more difficult.

The analysis cites several ways in which the glut of reported associations inhibit worthwhile research:

Dr. de Magalhes writes that researchers should be mindful of the bias toward seeking gene associations for cancer, considering it in their discussions with other researchers, and in appraising their work:

In genetics and genomics, literally everything is associated with cancer. If a gene has not been associated with cancer yet, it probably means it has not been studied enough and will most likely be associated with cancer in the future.

Says Dr. de Magalhes, In a scientific world where everything and every gene can be associated with cancer, the challenge is determining which are the key drivers of cancer and more promising therapeutic targets.

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Is every gene associated with cancer? - Medical News Today

Genetics

Are Genetics Raising Your Risk of Inherited Cancer? – McLeod Health

McLEOD REGIONAL MEDICAL CENTER 10 NOVEMBER 2021

Christel Hayes, FNP-CMcLeod Oncology and Hematology Associates

The body is made up of trillions of cells, which contain genes. Genes are the basic physical unit of inheritance that is passed from parents to offspring. These small segments of DNA determine specific human characteristics, such as hair color, blood type, height, and risk for developing certain diseases. An individual can have changes or mutations in the genes that provide the wrong set of instructions, leading to faulty function, or abnormal cell growth.

However, since we have two copies of every gene, typically the other copy is still functioning normally. A person can be born with gene mutations, or they can happen over a lifetime. Mutations can occur when cells are aging or after exposure to certain chemicals or radiation. Fortunately, cells usually recognize these types of mutations and repair them. Other times, however, they can cause disease, such as cancer.

All cancers have one common element. They result from harmful changes in your genes. These gene changes can be caused by lifestyle habits or exposure to environmental cancer-causing agents, such as harmful chemicals. But some mutations are changes that have been passed down from generation to generation. We refer to these as inherited mutations.

A person with a hereditary cancer risk has genes that make them more susceptible to cancer than someone in the general population. The medical management for a person in the general population would be different than a person, who is at high risk. These individuals need greater surveillance, have family considerations that should be discussed, and possibly, have surgeries or medications to help decrease their cancer risk.

A risk factor is anything that increases the chances of developing a disease. Some of the factors associated with an increased cancer risk include lifestyle, age, family history, gender, and inherited gene changes. In my role with the McLeod Cancer Center, I work in collaboration with clinicians to provide screening, education, and testing to identify inherited gene mutations known to increase the risk of cancer.

Inherited mutations in certain genes increase the risk of cancer. Predictive genetic testing can be performed to look for inherited gene mutations. Genetic counseling and testing may be recommended for individuals with a personal or family history of certain cancers, due to the increased risk of having an inherited gene mutation.

You should consider genetic testing for hereditary cancer if:

Genetic testing involves a sample of saliva or blood that is sent to a genetics lab for analysis. The lab results are then compared with the patients DNA to determine whether they have any of the cancer-causing genes. More than 90 percent of the insurance companies currently cover hereditary cancer panel testing.

At McLeod Oncology and Hematology Associates, we offer pre-test counseling about genetics, obtain a collection of your family history and determine if you are suitable for genetic testing. For more information, please call (843) 777-5951.

Christel Hayes, FNP-C, cares for the genetic needs of patients at the McLeod Center for Cancer Treatment and Research. Hayes recently moved to South Carolina from Indiana where she was the Breast Surgical Oncology Nurse Practitioner for Lutheran Surgical Specialists. She completed an Associate of Applied Science in Nursing at Purdue University and obtained her Bachelor of Science and Master of Science in Nursing from Indiana Wesleyan University.

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Are Genetics Raising Your Risk of Inherited Cancer? - McLeod Health

Genetics

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health | European Journal of Human…

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Genetics

Rare Genetic Mutation in Utah Family Traced Across Continents And Over Centuries – ScienceAlert

Scientists have tracked a rare genetic disease that runs in a large American family in Utah all the way back to 1700s Denmark.

The dangerous genetic quirk is considered 'high-impact' because it puts people as young as 13 at risk of atrial fibrillation (AF). AF is a disease of the heart that is marked by an irregular and rapid heartbeat, and can sometimes lead to fatal blood clots or heart failure.

In the Utah family, adult individuals 18 years or older who were tested and found to carry the mutation had almost an 80 percent chance of showing signs of the disease.

Using an ancestry database and family trees to create ancestral birth location maps, researchers suspect this mutation originally came from Denmark, hitching a ride with Mormon migrants as they traveled across the Atlantic and much of the United States.

"The unique partnership between the University of Utah Health and AncestryDNA has broadened our understanding of human disease into a historical context, one that includes the history of our ancestral origins and population movement across time and continents," says genetics expert Lynn Jorde from the University of Utah.

The mutation in question is an allele called KCNQ1 R231H, and it has been previously reported in families of Northern European descent, where it seems to put people at greater risk of young-onset AF.

While some forms of young-onset AF are not hereditary, health records in Utah found at least five 'apparently' unrelated families where it was.

A 13-year-old with paroxysmal AF, for instance, was found to have a mother with a history of cardiac arrest, as well as a maternal aunt that died in her sleep in her early 20s.

In all five families with inherited young-onset AF, genetic sequencing found the KCNQ1 R231 allele was responsible.

"Looking forward, our results also provide a glimpse of how large ancestry databases can be used to better understand the geographic distributions of persons at risk for particular genetic diseases, a necessary prelude to precision health care outreach activities," the authors write.

One family in Utah that held the KCNQ1 R231H allele agreed to have their genetic mutation assessed further. In this family, five AF-risk allele carriers consented to having their DNA submitted to the AncestryDNA database.

In the end, researchers found genetic matches for all five individuals in the database, and 824 individuals seemed to share their same genetic quirk.

Creating an algorithm to track these chromosomes over time and space, researchers created a possible timeline for the family's mutation.

The young-onset AF gene seems to come from their ancestors in Denmark way back in the 1700s. From 1800 to 1850, these ancestors then migrated to the Eastern United States, and by the 1900s, they had arrived in Utah.

That isn't the whole picture, however. Whole-genome sequencing suggests the KCNQ1 R231H allele goes back 5,000 years, plaguing some 200 generations. But our genetic databases and family timelines don't go back that far.

Nevertheless, 300 years is still an impressive timeline, long enough for researchers to help identify people in the US today who might be at risk of young-onset AF because of their genes.

"Any genetic variant that imparts risk of a potentially lethal, yet treatable, condition provides abundant motivation for the development of methods to identify at-risk individuals," the authorsconclude.

"Here, we offer an example of such a method in characterization of the KCNQ1 R231H mutation and identification of carriers thereof. While portions of our method are unique to the resources of AncestryDNA, much of it can be applied to any large genotype database."

The study was published in Nature Communications.

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Rare Genetic Mutation in Utah Family Traced Across Continents And Over Centuries - ScienceAlert

Genetics

Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations – Baylor College of…

Identifying the genetic causes of rare neurodevelopmental disorders can be quite challenging. In a recent study, a global scientific team including researchers from Baylor College of Medicine, worked to find genetic answers for Turkish families.

Its very common in clinical practice to see a patient whose characteristics do not match what has been documented in the literature, limiting the physicians ability to guide clinical care and provide information about which other family members might be at risk, said Dr. Tadahiro Mitani, a postdoctoral associate in Dr. James R. Lupskis lab at Baylor College of Medicine.

In the current study, explains Mitani, who is the first author of the work by a team of 50 investigators from around the world, the researchers looked to identify the genetic causes of rare neurodevelopmental disorders in 234 subjects and 20 previously unsolved cases of affected families of the Turkish population.

To achieve this goal, we integrated improved genome-wide screening technologies, including exome sequencing and whole-genome sequencing, and newly developed computational tools and bioinformatic analyses to improve our ability to identify the genetic underpinnings of rare neurodevelopmental conditions, said co-corresponding author Dr. Davut Pehlivan, assistant professor of pediatrics neurology at BCM.

The researchers started this project in 2011 and over the years developed close collaborations with physicians and patients worldwide, as well as with researchers in the fields of genetics, genomics and bioinformatics. The team used GeneMatcher, a freely accessible web-based matchmaking service designed to enable connections between clinicians and researchers from around the world who share an interest in the same gene or genes.

The team identified new genes and confirmed genes previously associated with neurodevelopmental disorders.

They were able to make a molecular diagnosis in 181 of 254 (71%) of the individuals in this study and in approximately 80% of neurodevelopmental disorders overall. Twenty of the 181 diagnosed individuals had been studied before, but at the time the researchers did not identify a genetic diagnosis.

Our findings confirm that applying newly developed molecular and computational tools on existing data can provide answers to previously undiagnosed families, Pehlivan said.

Importantly, we also found an explanation for the diagnostic challenge presented by conditions with characteristics that do not match what has been reported in the medical literature, said Mitani, currently at Jichi Medical University, Tokyo, Japan. We determined that the accumulation of particular combinations of rare disease-causing gene mutations at multiple genes, a phenomenon called multilocus pathogenic variation, results in complex characteristics unique to each individual.

The original idea that a single disorder is caused by a mutation in a single gene does not explain the variety of complex neurodevelopmental disorders, Pehlivan explained.

In multilocus pathogenic variation, one patient may have multiple mutated genes. For instance, one gene mutation may result in muscle disease and a different gene mutation that leads to brain disease, while in another patient one mutation may affect the kidneys and another the brain.

The accumulation of specific combinations of rare multiple mutated genes results in conditions with complex characteristics that are unique to each individual.

Patients may present with neurodevelopmental disorders that share similarities but also have important differences, which need to be taken into consideration when deciding treatment and when evaluating risk for other family members.

In this study, for the first time we strictly applied a set of criteria to evaluate multilocus pathogenic variation in our patients and found that it was present in 28.9% of the cases in which we established a genetic diagnosis, Pehlivan said. Our findings confirm the value of routinely applying these criteria to assess the contribution of multilocus pathogenic variation to rare neurodevelopmental disorders and again revealed why genomic studies are superior to single gene testing.

The integrated analyses of the genetic and genomic characteristics of each patient enabled the team to improve their ability to reach a diagnosis in many cases, said co-author Dr. Zeynep Coban Akdemir, assistant professor at UT Health School of Public Health-Houston. Most patients with multilocus pathogenic variation are in consanguineous families.

With studies such as this one, we seek to tackle the challenge of finding the cause of currently unexplained rare genetic disorders, said co-author Dr. Jennifer Posey, assistant professor of molecular and human genetics at BCM. Posey also leads the newly launched BCM GREGoR (Genomic Research to Elucidate the Genetics of Rare) program, a part of the NIH-funded GREGoR Consortium.

The researchers comprehensive approach also adds a valuable resource of information to the study of the function of human genes, human biology and molecular mechanisms involved in neurodevelopmental disorders, all of which can lead to improved diagnosis and treatments.

For a complete list of the contributors to this paper, their affiliations and the financial support for the work, see the publication in The American Journal of Human Genetics.

By Ana Mara Rodrguez, Ph.D.

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Genetics

Illuminating Dark Matter in Human DNA Unprecedented Atlas of the Book of Life – SciTechDaily

In an unprecedented atlas, researchers begin to map how genes are turned on or off in different cells, a step toward better understanding the connections between genetics and disease.

Researchers at University of California San Diego have produced a single-cell chromatin atlas for the human genome. Chromatin is a complex of DNA and protein found in eukaryotic cells; regions of chromatin at key gene regulatory elements appear in open configurations within certain cell nuclei. Precisely delineating these accessible chromatin regions in cells of different human tissue types would be a major step toward understanding the role of gene regulatory elements (non-coding DNA) in human health or disease.

The findings are published online in the November 12, 2021, issue of Cell.

For scientists, the human genome, popularly called the book of life, is mostly unwritten. Or at least unread. While science has famously put an (approximate) number to all of the protein-coding genes required to build a human being, approximately 20,000+, that estimation does not really begin to explain how exactly the construction process works or, in the case of disease, it might go awry.

The human genome was sequenced 20 years ago, but interpreting the meaning of this book of life continues to be challenging, said Bing Ren, PhD, director of the Center for Epigenomics, professor of cellular and molecular medicine at UC San Diego School of Medicine and a member of the Ludwig Institute for Cancer Research at UC San Diego.

A major reason is that the majority of the human DNA sequence, more than 98 percent, is non-protein-coding, and we do not yet have a genetic code book to unlock the information embedded in these sequences.

Put another way, its a bit like knowing chapter titles but with the rest of the pages still blank.

Efforts to fill in the blanks are broadly captured in an ongoing international effort called the Encyclopedia of DNA Elements (ENCODE), and include the work of Ren and colleagues. In particular, they have investigated the role and function of chromatin, a complex of DNA and proteins that form chromosomes within the nuclei of eukaryotic cells.

DNA carries the cells genetic instructions. The major proteins in chromatin, called histones, help tightly package the DNA in a compact form that fits within the cell nucleus. (There are roughly six feet of DNA tucked into each cell nucleus and approximately 10 billion miles in each human body.) Changes in how chromatin bundles up DNA are associated with DNA replication and gene expression.

After working with mice, Ren and collaborators turned their attention to a single-cell atlas of chromatin in the human genome.

They applied assays to more than 600,000 human cells sampled from 30 adult human tissue types from multiple donors, then integrated that information with similar data from 15 fetal tissue types to reveal the status of chromatin at approximately 1.2 million candidate cis-regulatory elements in 222 distinct cell types.

One of the initial challenges was identifying the best experimental conditions for such a diverse set of sample types, particularly given each tissues unique makeup and sensitivity to homogenization, said study co-author Sebastian Preissl, PhD, associate director for Single Cell Genomics at UC San Diego Center for Epigenomics, a collaborative research center that carried out the assays.

Cis-regulatory elements are regions of non-coding DNA that regulate transcription (copying a segment of DNA into RNA) of neighboring genes. Transcription is the essential process that converts genetic information into action.

Studies in the last decade have established that sequence variations in non-coding DNA are a key driver in multi-genic traits and diseases in human populations, such as diabetes, Alzheimers disease and autoimmune diseases, said study co-author Kyle J. Gaulton, PhD, assistant professor in the Department of Pediatrics at UC San Diego School of Medicine.

A new paradigm that helps explain how these noncoding variants contribute to diseases posits that these sequence alterations disrupt function of transcriptional regulatory elements and lead to dysregulation of gene expression in disease-relevant cell types, such as neurons, immune cells or epithelial cells, said co-first author Kai Zhang, PhD, a postdoctoral fellow in the Department of Cellular and Molecular Medicine. A major barrier to unlocking the function of noncoding risk variants, however, is the lack of cell-type-specific maps of transcriptional regulatory elements in the human genome.

Ren said the new findings identify disease-trait-relevant cell types for 240 multi-genic traits and diseases, and annotate the risk of noncoding variants.

We believe that this resource will greatly facilitate the study of mechanism across a broad spectrum of human diseases for many years to come.

Preissl said the chromatin atlas will also allow the scientific community to unravel tissue environment-specific differences of cell types that reside in multiple tissues, such as fibroblasts, immune cells or endothelial cells.

Reference: A single-cell atlas of chromatin accessibility in the human genome by Kai Zhang, James D. Hocker, Michael Miller, Xiaomeng Hou, Joshua Chiou, Olivier B. Poirion, Yunjiang Qiu, Yang E. Li, Kyle J. Gaulton, Allen Wang, Sebastian Preissl and Bing Ren, 12 November 2021, Cell.DOI: 10.1016/j.cell.2021.10.024

Co-authors include: James D. Hocker and Yang E. Li, Ludwig Institute for Cancer Research and UC San Diego; Michael Miller, Hiaomeng Hou, Joshua Chiou, Olivier B. Poirion and Allen Wang, all at UC San Diego; and Yunjiang Qiu, Ludwig Institute for Cancer Research, La Jolla.

Funding for this research came, in part, from the Ludwig Institute for Cancer Research, the National Human Genome Research Institute (GRANT 3U54HG006997-04S2), Foundation for the National Institutes of Health (AMP T2D RFP14), the Ruth L. Kirschstein Institutional National Science Research Award from the National Institute of General Medical Sciences (T32 GM008666).

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Illuminating Dark Matter in Human DNA Unprecedented Atlas of the Book of Life - SciTechDaily

Genetics

Sex-specific differences in aging and Alzheimer’s disease may be tied to genetics – National Institute on Aging

When it comes to cognitive aging and Alzheimers disease, the differences between men and women may be related to genetics. According to an NIA-supported study published in JAMA Neurology, August 2021, genes contained in the X chromosome may hold the key to differences between men and women in aging and Alzheimers-related cognitive decline.

Cognitive changes can affect memory, attention, and executive functions such as planning and self-control. These changes can occur as a result of the natural process of aging or dementia such as Alzheimers. Sometimes, cognitive changes are accompanied by changes in the brain such as the formation of neurofibrillary tangles, a hallmark characteristic of the brain tissue associated with Alzheimers. The tangles involve the twisting of tau protein threads of the nerve cells in the brain tissue. The rate and degree of cognitive decline, as well as the extent of neurofibrillary tangles, differ between men and women.

In this study, scientists led by a team at the University of California, San Francisco, analyzed genetic and clinical data from a joint cohort consisting of two long-term studies: the Religious Orders Study and the Rush Memory and Aging Project. The scientists gathered genetic data from the brain tissue of 508 autopsied individuals via RNA sequencing, a technique used to measure how many copies of specific genes are present in a humans cells at a given time.

The scientists also gathered data about participants cognitive function over several years to assess changes in cognition, including memory and attention. Participants did not have dementia at the time of their enrollment in the studies and were monitored periodically until their death. Using genetic and clinical data, the scientists examined associations of cognitive changes and levels of neurofibrillary tangles with genes on the X chromosome.

The X chromosome is one of the two sex chromosomes in humans (the Y chromosome is the other). Women have two X chromosomes, and men have one X and one Y. Unlike the Y chromosome, which contains just 50 to 60 genes, the X chromosome contains hundreds of genes, many of which are related to brain function. However, not much is known about how the expression of X chromosome-linked genes affects brain changes in aging and Alzheimers. Gene expression is the process by which the instructions in our DNA are converted into a functional product, such as a protein.

The scientists found that the expression levels of 19 genes on the X chromosome were linked to changes in cognition and quantity of neurofibrillary tangles. In women, this increased expression was associated with slower cognitive decline. The expression of these genes was not increased in men. This may suggest that specific genes on the X chromosome help protect women from cognitive decline in aging and Alzheimers.

In contrast, the expression of three X chromosome genes associated with neurofibrillary tangles was increased in men. This may suggest that men could be more at risk of developing Alzheimers-related pathological changes than women.

Because this study used a sample population that was 98% white, future studies must be conducted on a more diverse sample. Nonetheless, the expression of X chromosome genes may uncover some of the genetic differences in cognitive aging and Alzheimers between men and women. Research to further examine the role of X chromosome genes in aging and Alzheimers could help advance personalized treatment options for both men and women.

This research was funded in part by NIA grants RF1AG068325, P30AG10161, R01AG15819, R01AG17917, U01AG61356, U01AG46152, R01AG36836, R01AG060393, and R01AG062588.

These activities relate to NIHs AD+ADRD Research Implementation Milestone 2.D, Create programs in basic, translational and clinical research aimed at comprehensive understanding of the impact of sex differences on the trajectories of brain aging and disease, phenotypes of AD and ADRD risk and responsiveness to treatment.

Reference: Davis EJ, et al. Sex-specific association of the X chromosome with cognitive change and tau pathology in aging and Alzheimer Disease. JAMA Neurology. 2021 Aug 23;e212806. doi: 10.1001/jamaneurol.2021.2806.

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Sex-specific differences in aging and Alzheimer's disease may be tied to genetics - National Institute on Aging

Genetics

AncestryDNA vs. 23andMe: Which DNA Kit Delivers the Best Genetic Information? – PCMag.com

DNA kits are useful, popular ways for discovering your roots, as well as identifying potential health conditions. AncestryDNA and 23andMe are the most well-known consumer DNA services, and they cost roughly the same amount of money. So, which DNA kit should you pick to learn more about your family history and genetics? We pit the DNA giants against each other to help you make an informed decision.

OnceAncestryprocesses your DNA sample, your dashboard displays an interactive map of your ethnicity estimate, possible DNA matches, and a map of where your ancestors lived. If you cancel your account, you can download your raw DNA report and take it with you.

Ancestry continually updates your results as the company collects more reference samples and builds better tools. My profile was last updated in September 2021. Subscribers can access an array of historical records, including Census data; create family trees; and contact other Ancestry members.

The company offers three subscription options: AncestryDNA (the original version), AncestryDNA + World Explorer Membership, and AncestryDNA Traits + All Access Membership. The World Explorer Membership opens up access to international records, and the All Access Membership includes access to Fold3 and Newspapers.com. Fold3 has over half a million military records and millions of nonmilitary. A membership to Newspapers.com comes with more than 2 billion articles that go back to the 1700s.

The third-tier plan includes AncestryDNA Traits, which tests for more than 30 traits. These tests reveal many traits, including eye color, vitamin levels, and muscle fatigue. You can view how AncestryDNA determined your results, and learn which factors besides genetics affect those traits, such as diet.

23andMereports cover a few categories: Ancestry Composition, DNA Relatives List, Neanderthal Ancestry, and Maternal and Paternal haplogroups. You unearth more detail by interacting with the map on the ancestry composition page, including the exact heritage percentages. You can also see the last time when that information was updated (our data was refreshed in June 2021).

Based on your mitochondrial (maternal) DNA, the maternal haplogroup section shows which haplogroup you belong to, as well as subgroups. People in the same haplogroup have a common ancestor. For example, the haplogroup T2b shares an ancestor who lived 10,000 years ago; most people in this haplogroup live in Europe. The Y chromosome determines paternal haplogroups.

If you're genetically male (as in, you have an X chromosome and a Y chromosome), you can view both your maternal and paternal lines. People with two X chromosomes can't access this data unless their father or brother submits their DNA.

23andMe offers three options: Ancestry + Traits Service; Health + Ancestry Service; and 23andMe+ membership, including the Health + Ancestry kit. The membership includes more in-depth health information, advanced DNA Relative filters, and access to more than three times the DNA Relatives.

Winner:23andMe

AncestryDNA briefly offered DNA-based health testing starting in 2019, but discontinued the service in winter 2020 to focus on its core products. Members who used this product during its brief lifespan had a chance to download their results in 2020, but they're no longer available in their profiles.

23andMe's Health and Traits reports are available in several categories, such as Health Predisposition, Carrier Status, and Wellness. The company tests for many conditions, including Celiac disease, macular degeneration, and Type-2 diabetes. As mentioned earlier, it also tests for traits like your alcohol flush reaction, muscle composition, and even asparagus odor detection (very likely in our case). The company continues to add new reports.

Even if you've opted out of health testing, you can optionally fill out 23andMe's health questionnaires to help with company research. You can also choose to save your saliva samples at 23andMe's labs for future testing. Otherwise, 23andMe will destroy your sample once it's processed (Ancestry will destroy your sample on request).

Winner:23andMe

AncestryDNA searches its database for matches using the service's DNA Matches feature. Only your username, possible relationship, and genetic ethnicity are visible to other members. AncestryDNA continues to search for matches as its database grows.

Ancestry started as family tree software, and it incorporates your AncestryDNA results into your existing family trees. Aside from that, AncestryDNA has a feature called ThruLines, which uses public Ancestry family trees and your private trees to show common ancestors you share with your matches. It also displays potential ancestors from your grandparents to multiples of great grandparents. If you mouse over a probable ancestor, AncestryDNA shows you how many DNA matches are in its system. You can view as much information about your matches as the matches allow, which can be as little as their relationship to you.

Like AncestryDNA, 23andMe looks for DNA matches among its other members, but only if you opt-in to its DNA Relatives program. You'll get email alerts about possible matches and their relationship with you. You can turn on open sharing to make specific details available for other members, such as your full name. If you leave this off, other users must send you a share request. Depending on profile settings, you can either send a message or an introduction.

Winner:Ancestry

AncestryDNA and 23andMe are both excellent DNA testing services, but they have different focuses. The former is a good choice if youre building a family tree, but the latter has robust health-testing capabilities, and rich reports on maternal/paternal lines and Neanderthal ancestry.In short, 23andMe is the DNA kit you should buy if you're looking for a wide view of your genetics.

Overall Winner:23andMe

Note that it's not just your family's human members whose ancestry might interest you.The best dog DNA test kitscan help you tell a Maltese from a mutt, and we've reviewed the top choices in that category.

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Original post:
AncestryDNA vs. 23andMe: Which DNA Kit Delivers the Best Genetic Information? - PCMag.com