New Genetic Clues Found for ME/CFS (Chronic Fatigue)

    A massive new study has identified several genetic regions associated with the debilitating condition myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) by analyzing data from more than 15,500 affected individuals, according to Science. From a genetics perspective, this is a major development because ME/CFS has long been misunderstood, with its biological basis debated for decades. The discovery of genomic regions, particularly those linked to immune function and nervous system signaling, suggests that there is a measurable genetic predisposition contributing to the condition. This marks a critical shift toward understanding ME/CFS as a complex biomedical disorder rather than one explained by stress or psychosomatic factors.

    These findings also raise important questions for the future of research and clinical care. If these genetic regions are validated, could new diagnostic tests or biomarkers emerge that finally allow clinicians to identify ME/CFS with biological precision? Additionally, the results emphasize the role of polygenic risk (many variants of small individual effect) rather than a single gene mutation driving the condition. This aligns ME/CFS with other complex disorders such as autoimmune diseases, depression, or diabetes, where risk is distributed across many interacting genetic and environmental factors.

    In the context of our class, this study offers a strong real-world example of how genetic research can reshape the narrative around poorly understood disorders. It illustrates how identifying genetic profiles not only deepens biological understanding but also influences how these conditions are written about in science and health journalism. Ultimately, while this story may feel less dramatic than advances in CRISPR or single-gene therapies, its implications are very significant
. For people living with ME/CFS, these findings represent long-awaited scientific recognition and new paths toward legitimization, diagnosis, and hopefully future treatments.

Secondary source: https://link.springer.com/article/10.1186/s12967-022-03815-8

Resources

“Possible Genetic Clues to ME/Chronic Fatigue Syndrome Identified in Massive Study.” Science, 2025, https://www.science.org/content/article/possible-genetic-clues-me-chronic-fatigue-syndrome-identified-massive-study

Das, Sayoni, et al. “Genetic Risk Factors for ME/CFS Identified Using Combinatorial Analysis.” Journal of Translational Medicine, vol. 20, no. 1, 2022, p. 598, https://link.springer.com/article/10.1186/s12967-022-03815-8

Genetic Insights into Why Depression Affects Women More Than Men

       In a recent study done by Dr. Jodi Thomas at the School of Biomedical Sciences at The University of Queensland, it has been found that major depressive disorder (MDD) impacts almost twice as many women as it does men. Researchers findings in the study with over 200,000 men and women with MDD start to unpack the underlying causes of MDD in both sexes. They categorized genetic effects into three separate groups: shared effects present in both sexes, sex-dependent effects that differ in magnitude or direction, and sex-specific effects present in only one sex. Their analysis revealed that women carry about 13,200 genetic variants linked to MDD while men have only 7,100, suggesting that women might bear a higher genetic burden (including 6,100 variants potentially unique to females). Additionally, three genomic regions were identified as major only in women, supporting the presence of sex-specific genetic influences.

The study also focused on genetic correlations between MDD and metabolic traits like body mass index (BMI) and metabolic syndrome. These correlations were stronger in women, consistent with clinical observations that women with MDD more often experience metabolic symptoms. With this, researchers recorded limitations in statistical power, meaning that not all causal genetic regions could be definitively identified. In addition, genetic correlations between men and women with MDD were slightly lower than expected, underscoring possible differences in cohort characteristics. This suggests that twin studies and GWASs may capture distinct aspects of genetic risk.

    Ultimately, the study highlighted a noteworthy variant on the X chromosome in men, mapping to the IL1RAPL1 gene, which is involved in memory and has been associated with several other traits but not previously with MDD. While the role of this gene in male depression is still unclear, it provides a promising opportunity for further research. Overall, the study harps on the importance of sex-stratified analyses to comprehend the biological function of MDD and points to the need for more data collection and further investigation into molecular mechanisms that mediate sex-dependent and sex-specific genetic impacts.

Sources:

https://www.nature.com/articles/d41586-025-03374-0

https://www.nature.com/articles/s41467-025-63236-1

https://www.mayoclinic.org/diseases-conditions/depression/symptoms-causes/syc-20356007

Do Your Pearly Whites Shine Into Your Ancestor's Past?

Hooked For a Bite

Prior to last week, only one gene was confirmed to influence the structure of teeth in the human body. Today, we now know 18 genes well enough to pin what they influence in teeth, whether it be size or shape. This was achieved through the collection of data from almost 900 volunteers from Columbia who had dental plaster casts made of their teeth, which then got turned into 3D scans. Dental crown measurements were taken from this and the data was analyzed. It was found during the course of the studies that there was one gene believed to be carried over from Neanderthals. The Neanderthal gene variant linked to teeth was only found in people of European descent, and results in thinner incisors. This was done through comparison of SNPs, which was done based on the tooth phenotype displayed, as well as GWAS associations. I think this is a cool look into anthropology, and helps make progress in our understanding of the human genome, but I quite honestly see not value in this work beyond that and possibly coming up with new genome comparison and analysis methods.

Links

https://www.usnews.com/news/health-news/articles/2024-12-17/scientists-identify-genes-that-shape-peoples-teeth

https://www.cell.com/current-biology/fulltext/S0960-9822(24)01568-9?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0960982224015689%3Fshowall%3Dtrue

Secretoglobin SCGB1D2 found in human sweat may protect against those affected by Lyme's Disease

     Lyme's disease affects more than 500,000 people a year, the disease is carried by mice, deer, and other animals and is transmitted by ticks. The disease is caused by the bacterium Borrelia Burgdorferi, which can cause symptoms like fatigue, body aches, fever, and other symptoms that can usually be cleared up but, for others, these symptoms may linger for years. Michal Caspi Tal and Hanna Ollila, researchers at MIT, ran a genome-wide association study (GWAS) with included genome sequences for 410,000 people, 7,000 of them having Lyme's disease. The article described how the GWAS revealed how the secretoglobin, a family of proteins that play a role in immune responses to infection, SCGB1D2 (mainly produced by sweat glands) may be linked to the disease. Mice injected with borrelia burgdorferi exposed to a mutant version of the protein fell victim to the disease however, mice injected with borrelia burgdorferi exposed to the normal version of the protein showed no signs or symptoms of the disease. Though researchers are not sure how the protein inhibits bacterial growth, they found that the mutated version causes a shift from the amino acid proline to leucine. 

    I found the research that was done to be potentially life changing for many people. So many people suffer from Lyme's disease and is very common around woody areas, like the pinelands. The potential that has risen from these findings, as talked about in the article, could eventually be used to make protective creams, or new medicines for people whose symptoms are still around, even after antibiotics. The new information could also potentially be applied to dogs, another species commonly affected by the bacterium. I think it's amazing what could be found using huge genome databases. 

Article: A Protein found in human sweat may protect against Lyme disease

Reference: SCGB1D2 inhibits growth of Borrelia burgdorferi and affect susceptibility to Lyme disease

GWAS Shows Correlation of Cannabis Use Disorder with Lung Cancer

 The Genetic Basis of Cannabis Use Disorder and Lung Cancer

    A recent GWAS from Nature shows a correlation between lung cancer susceptibility and cannabis use disorder. This study was a meta-analysis between nearly 1 million individuals of European, African, mixed American, and East Asian ancestries and it examined single nucleotide polymorphism (SNP) heritability. Using this data, the researchers found that 22 loci were associated with the susceptibility of lung cancer, but in each group, the expression of the SNPs was different. For instance, the East Asian sample group's SNPs were intronic to the semaphorin 6D-encoding gene, whereas the American group was an intergenic region downstream of leucine-rich repeats containing the semaphorin 6D-encoding gene. They used a comparative analysis of psychiatric symptoms and found many overlapping associations between cannabis use disorder and the likelihood of developing lung cancer. This association comes from a likelihood of becoming a smoker and resorting to cigarettes, which would most likely, in turn, result in a greater risk for lung cancer in those populations.

    I found this study to be very interesting and it definitely shines some light on the addictive manner of cannabis and cannabis-containing products. The biological mechanism of cannabis and the cannabinoids involved are still not fully known, which I think is a long-term danger in regards to smoking/consuming cannabis products. Furthermore, those with cannabis use disorder being at a greater likelihood for developing lung cancer is scary to think about and could considerably be an element of medicine/psychiatry to dig deeper to in the meantime. Nevertheless, going forward I think we should be more conscientious of what we are breathing in and consuming, because with lung cancer being the top cause of death, that should be enough to scare us into treating our bodies better. 

Links:

1. https://www.nature.com/articles/s41588-023-01563-z 

2. https://www.news-medical.net/news/20231123/Genome-study-unveils-genetic-ties-between-cannabis-use-disorder-and-lung-cancer-risk.aspx 

Identifying critical cell types and gene regulatory pathways for hair and skin disease

 

Skin and hair diseases are one of the most common conditions in humans. Genome-wide association studies (GWAS) have determined what loci they are from but determining what variants they are from is still being worked on. Dr. Ben Ober-Reynolds from Stanford University's study has been working on identifying the variants by comparing 3 samples; the biopsy samples from healthy control volunteers, patients with alopecia areata, and discarded surgical tissue from patients who had dermatologic surgeries. Using the data they took and integrating it into existing GWAS datasets, they can identify disease-associated cell types.

This can help identify the loci that cause these diseases and potentially find out how to treat them early.

The Genetics Behind Height

In an article published in Nature researchers discuss the genetics behind individuals heights, and what genetics processes might be responsible for its inheritance. What researchers know from sequencing the human genome about 20 years ago was that about 80% of a person's height is determined from the genes, but they are still unsure of what parts specifically are responsible for this. Several studies that attempted to find the variations responsible for height were only able to find little changes rather than a significant chuck, which led many to believe that there may have been something wrong with our knowledge of genetics. Researchers continues to look into what they called the missing heritability for height, and what was found was that though using processes like Genome-Wide Association Studies (GWAS) to search for rare SNPs that aren’t commonly studies in GWAS, and found that these are most likely where the genetics of height lies. These researchers sequences about 6 billion bases between 21, 620 people and found that what was previously believed about the genetics of height was actually rather true, that the heritability of height was about 70%.  

I think this article is rather interesting because I feel like it is such common knowledge that your height is an inherited trait that you get from your family, but while that's true it is a much more complicated genetic process than many people know. I know for my family the genetic inheritance of height is rather obvious as none of us are over 5’8”. I also think that it’s fascinating that we really don’t know that much about the specifics about how exactly height is genetically passed down.

Come On Get Happy

There is an article that is a bit older, but still very interesting, from Science Magazine. Scientists have been working finding the genetic variants that are associated with mental illness. A GWAS (genome-wide association studies) was conducted on a group of African Americans to try and find the loci that may be responsible for an inheritable trait of happiness. They were able to identify a specific loci that was strongly associated with an individual with more positive emotional experiences.

Genetics is incredible in the fact that every day that passes we learn a little more. I find it fascinating that so many traits, which are not limited to physical traits, are determined by an individual's genetic coding. I am eager to see how the identification of these genes in conjunction with advances in gene therapies; changes how much of the inherited self can be modified.

Genes underlying dogs' social ability revealed

According to a study done by Linköping University, the social ability of dogs is affected by genes that also seems to influence the way they behave with humans. The scientists involved in the research have found a relationship between five different genes and the ability of dogs to interact with humans.

Of all the domesticated animals, dogs are the oldest. Over thousands of years, they have adapted to a life among humans; through developed unique abilities to communicate and cooperate with humans. In this respect, they are widely superior to their wild ancestors, the wolves. If a dog was facing a difficult task, it'd most likely seek a human, apparently to solicit help. In similar situations, wolves generally attempt to solve the problem themselves.

"Our findings are the first to reveal genes that can have caused the extreme change in social behavior, which has occurred in dogs since they were domesticated," says Per Jensen, professor of ethology, who is the leader of the research group.

In the new study, the researchers wanted to study the behavior of the dogs by presenting them with an tough situation; opening a tight lid to obtain a treat. The participants included almost 500 beagles all with similar early exposure to humans. The scientists used video recordings to quantify the willingness of the dogs to seek physical contact with a person in the room when the problem turned out to be too difficult.The DNA of the dogs were also examined. By using a method called genome-wide association study or GWAS, the researchers examined a large number of genetic variants throughout the genome. GWAS can be used to find out if a particular genetic variant is more common among individuals with a particular trait, such as contact seeking behavior in this case. It turned out that the contact seeking dogs more often carried certain genetic variants.

I'm surprised to learn that behavior can be a result of a gene. This brings in the idea of nature vs. nurture which I find to be an interesting topic.

The Genes Behind Why Dogs are Man's Best Friend

   

 “Dogs are man’s best friend” is a very common quote used to describe the fondness and loyalty dogs have for humans. Surprisingly, research shows that the same genes linked to social disorders in humans, such as autism, are possibly the same genes behind dogs’ social behavior towards humans.

The behavioral experiment in which dogs’ sociability towards humans was tested.

    A behavioral experiment was conducted using hundreds of lab-bred beagles, in which they were given a task to open three transparent lids containing treats, one of them being tightly closed. The dogs were observed to seek help from the person standing in the room after finding it hard to open that lid, instead of finding a way to open it on their own. Some of them looked at the observer and then back at the stuck lid, while others tried to make physical contact or stayed close to the observer. The Gender of the beagles was also shown to play a role, in which females were shown to be more sociable than males.

    A DNA testing method, called Genome-Wide Associated Studies (GWAS), was used to study a large number of variants within each dog’s genome. Results showed that five genes selected during domestication were heavily linked to dogs’ sociability towards humans. Four of these genes, including the SEZ6L gene, have also been linked to human social disorders, such as autism, schizophrenia, aggression, and ADHD. The evidence however, is not enough to prove this correlation, since this test was only performed on beagles. Scientists plan to do further research on other dog breeds, and hope that this information would also be useful in gaining a better understanding of human social disorders.

    I found this information very fascinating because I never knew that a gene that can possibly be beneficial in one species, can be harmful in another. I’m looking forward to reading more about this when further research and confirmation are made.

Links:

https://www.sciencenews.org/article/gene-linked-autism-people-may-influence-dog-sociability

http://www.scienceworldreport.com/articles/48744/20160930/genetics-now-explain-why-dogs-mans-best-friend.htm

http://www.dailymail.co.uk/sciencetech/article-3813873/So-S-man-s-best-friend-Genes-linked-autism-humans-influence-dog-sociability.html

CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation

Apparently, Crohn's disease and plasma palmitoleric acid have an association. Using a new technology, CPAG or Cross-Phenotype Analysis of GWAS, scientists were able to perform meta-analyses of genome-wide association studies (GWAS) and search for similarities between over 600 traits. Using GWAS is particularly helpful being that Crohn's disease is associated with a genetic variant. Pleiotropic SNPs (single polynucleotide polymorphisms) are common within the human genome, which means one genetic locus affects multiple phenotypes. The significance of cross-phenotype associations lies in the fact that they may represent pleiotropy, and it has been discovered that the PTPN22 gene is associated with many conditions, such as Crohn's disease, rheumatoid arthritis, type 1 diabetes, and more. It was found that 7% of SNPs are associated with more than one raw trait. In addition, by identifying traits associated with particular genetic variants and clustering the traits in order to visualize associations, clusters of known cholesterol-related traits, such as type 2 diabetes, obesity, and autoimmunity, were easy to see and represented known relationships. 

The results were compared using a Chao-Sorensen model, the first use of a model usually used for ecology research, to study genetics. The model assessed heterogeneity, or the discordance of observed disease groups with already defined disease group. Many traits were had a high correspondence, which can be explained by reasons such as a similar risk factor, consequence of a disease, a similar gene affecting different pathways. Crohn's disease and psoriasis only overlap with two SNPs but were found to have genes in the interleukin (IL)-23 pathway, suggesting that the risk of both conditions could be related to signaling. Researchers went on to test whether increased plasma fatty acid would induce intestinal inflammation in zebrafish to find that plasma fatty acids have an effect on intestinal inflammation. It is known that countries with high fat diets have a stronger correlation with Crohn's disease. Three different fatty acids were injected into zebrafish larvae. Palmitic acid induced a greater increase in inflammation compared to TNBS-exposed and BSA-injected. Linoileic acid was suggestive of having an anti-inflammatory effect. 

I found this study to be of great interest, as it supports that environment can have a direct effect on the expression of certain diseases. The consumption of too much unnecessary fat could lead to the expression of Crohn's disease. 

Genetic Markers to Identify Individuals at Risk for Acute Kidney Infections

Yale University, Vanderbilt University, and the University of Western Ontario collaborators want to work on a way to determine individuals who are at risk for acute kidney infections (AKI). through genetic testing. "This may uncover novel pathways to target for therapeutic interventions," said senior author Chirag R. Parikh, MD, PhD, FASN of Yale. Previous analysis methods of genetic AKI have limited the amount of knowledge we could have on AKI's. Dr. Parikh says, "But technological progress in genotyping has opened the possibilities towards hypothesis-generating genomic screens and novel opportunities to explore polygenetic perspectives, now spanning a wide array of possible analyses falling under the term Genome-Wide Association Study (GWAS)".
They have identified that for patient's at risk for AKI there are 6 clusters of 3 or more SNP's on 6 individual chromosomes.
They were about to discover this by using GWAS methods at a hospital setting. The subjects were 760 adults with AKI and 669 controls that had been treated in ICU for surgery or recovery.

http://www.sciencedaily.com/releases/2014/11/141125101701.htm 

http://www.wales.nhs.uk/sitesplus/863/page/39304 

Genomics Is Mired In Misunderstanding

"The cost of genome sequencing has fallen drastically", says George Church.  So the question is why are so many people not opting to have any genetic secrets revealed? 

    They have come to the conclusion that the reason people haven't obtained their genome sequence is because there is a failure to communicate the progress to the public.  George Church was in charge of a team registered to compete for US$10-million Archon Genomics X Prize.  It got canceled in August but it highlighted many problems and misunderstandings in genomics.

    The first problem or misunderstanding is that people think genomics is expensive.  The costs have dropped drastically from $3 billion to $1,000 in 2006.  People feel that the genome sequencing should be free due to insurance or the government, but that $1,000 for the cost can be easily made up over a lifetime instead of the costs of ending up in a hospital and having diagnostics.  Along with the costs people probably think that genomics is inaccurate.  When the X Prize Foundation announced the cancellation in August, they claimed, "no company is sequencing whole genomes to the accuracy the contest required".  However the accuracy has improved from 350 kilobases to 2,463 kilobases and the point errors have improved from 1 in 100,000 to 1 in 10 million, which are beyond the X Prize goals.  

     Since 1991, predictive gene tests have risen from 2 to 3,000.  Even the most complex traits are composed of simpler components that can be identified and applied to an individual that isn't classified as at risk, such as height and diabetes.  Even if the the genetic conditions that are identified have no cure, the results are still useful.  In Ashkenazi communities, they get genetic screening done to make lists of suitable marital partners early in life so to avoid those offspring developing Tay-Sachs disease and dozens of other similar diseases.  We can't restrict genomics to only individuals with ethnic or family risks because we are all at risk.  A sufficient reason to get genomes checked is the possibility to find markers for a treatable disease.  
    
     Many critics say that genomics is harmful, however the "US Genetic Information Nondiscrimination Act (GINA) prevents genetics-based discrimination in health insurance and employment".  The question being asked is if the overall benefits outweigh the risks? George Church believes that we need the X Prize more than ever.  I thought this article was very interesting because people have always said how much sequencing of genomes are yet though still slightly high in cost, not ridiculously now and it does seem like it would benefit to check for makers of treatable diseases.

http://ezproxy.stockton.edu:2048/login?url=http://search.proquest.com.ezproxy.stockton.edu:2048/docview/1439021031?accountid=29054
lhttp://www.nature.com/nature/journal/v409/n6822/full/409860a0.html

The Smoking Addiction Gene Complex

By studying the DNA marker profiles of smokers versus non-smokers it is clear to see variants among smokers that may trigger key smoking behaviors. An international research team associated three genes that contribute to the number of cigarettes smoked per day, one gene associated with the smoking initiation, and one other gene associated with smoking cessation (quitting). These variants lie on Chromosome 15, which has previously been linked to heavy smoking and nicotine dependence, in an area that also holds genes for nicotinic receptor genes.

These researchers gathered much data from the genome-wide association studies (GWAS) to effectively  link specific genes to smoking addiction. Because smoking is associated with many diseases like heart disease and cancer, GWAS was able to supply a lot of data that can help test the links between genetic variants and smoking in one single study.



At this time, testing one's genome for variants can not do anything to provide treatment for smoking addictions. Hopefully with more data, possible gene therapies can be used to increase the rate of smoking cessation among addicts.