Skip to main content

Polycystic Ovary Syndrome

Unveiling the shared genetic architecture between testosterone and polycystic ovary syndrome


Testosterone (T) is a critical predictor of polycystic ovary syndrome (PCOS) but the genetic overlap between T and PCOS has not been established. Here by leveraging genetic datasets from large-scale genome-wide association studies, we assessed the genetic correlation and polygenic overlap between PCOS and three T-related traits using linkage disequilibrium score regression and the bivariate causal mixture model methods.

The conjunctional false discovery rate (conjFDR) method was employed to identify shared causal variants. Functional annotation of variants was conducted using FUMA. Total T and bioavailable T exhibited positive correlations with PCOS, while sex hormone-binding globulin (SHBG) showed a negative correlation. All three traits demonstrated extensive genetic overlap with PCOS, with a minimum of 68% of T-related variants influencing PCOS.

The conjFDR revealed 4 to 6 causal variants within joint genomic loci shared between PCOS and T-related traits. Functional annotations suggested that these variants might impact PCOS by modulating nearby genes, such as FSHB. Our findings support the hypothesis that PCOS is significantly influenced by androgen abnormalities. Additionally, this study identified several causal variants potentially involved in shared biological mechanisms between PCOS and T regulation.

Polycystic ovary syndrome (PCOS) stands out as one of the most prevalent endocrine abnormalities, affecting 6–20% of women globally within their reproductive years. The presentation of PCOS is notably intricate and heterogeneous, with clinical diagnosis primarily relying on three key characteristics: the presence of clinical or biochemical hyperandrogenism (HA), chronic ovulatory dysfunction (OD), and ultrasound-indicated polycystic ovarian morphology (PCOM).

The 1990 US National Institutes of Health (NIH) criteria initially defined PCOS as the presence of both HA and OD, while the 2003 Rotterdam criteria expanded this definition to include the diagnosis of PCOM, requiring the presence of at least two of the three characteristics. Subsequently, mounting evidence suggested that HA might involve in major pathophysiological mechanisms underlying PCOS, leading the 2006 Androgen Excess and PCOS Society (AE-PCOS) Position Statement to assert that PCOS should primarily be considered a disorder of androgen excess or HA.

Polycystic ovary syndrome, hormonal imbalance, insulin resistance, irregular periods, ovarian cysts, infertility, acne, hirsutism, weight gain, mood swings, menstrual disorders, metabolic syndrome, reproductive health, anovulation, androgen excess, endocrine disorder, hair thinning, chronic inflammation, type 2 diabetes, lifestyle management

#PCOS, #PolycysticOvarySyndrome, #HormonalImbalance, #WomensHealth, #IrregularPeriods, #FertilityAwareness, #OvarianCysts, #EndocrineDisorder, #PCOSAwareness, #AcneProblems, #Hirsutism, #MetabolicSyndrome, #InsulinResistance, #HairThinning, #HealthyHormones, #PCOSSupport, #Anovulation, #Type2DiabetesRisk, #WeightGainStruggles, #WomensWellness

International Conference on Genetics and Genomics of Diseases

Visit: genetics-conferences.healthcarek.com

Award Nomination: genetics-conferences.healthcarek.com/award-nomination/?ecategory=Awards&rcategory=Awardee

Award registration: genetics-conferences.healthcarek.com/award-registration/

For Enquiries: contact@healthcarek.com

Get Connected Here
---------------------------------
---------------------------------
in.pinterest.com/Dorita0211
twitter.com/Dorita_02_11_
facebook.com/profile.php?id=61555903296992
instagram.com/p/C4ukfcOsK36
genetics-awards.blogspot.com/
youtube.com/@GeneticsHealthcare

    Comments

    Post a Comment

    Popular posts from this blog

    Fruitful innovation

    Fruitful innovation: Transforming watermelon genetics with advanced base editors The development of new adenine base editors (ABE) and adenine-to-thymine/ guanine base editors (AKBE) is transforming watermelon genetic engineering. These innovative tools enable precise A:T-to-G and A:T-to-T base substitutions, allowing for targeted genetic modifications. The research highlights the efficiency of these editors in generating specific mutations, such as a flowerless phenotype in ClFT (Y84H) mutant plants. This advancement not only enhances the understanding of gene function but also significantly improves molecular breeding, paving the way for more efficient watermelon crop improvement. Traditional breeding methods for watermelon often face challenges in achieving desired genetic traits efficiently and accurately. While CRISPR/Cas9 has provided a powerful tool for genome editing, its precision and scope are sometimes limited. These limitations highlight the need for more advanced gene-e...
    Post a Comment
    Read more

    Genetic factors with clinical trial stoppage

    Genetic factors associated with reasons for clinical trial stoppage Many drug discovery projects are started but few progress fully through clinical trials to approval. Previous work has shown that human genetics support for the therapeutic hypothesis increases the chance of trial progression. Here, we applied natural language processing to classify the free-text reasons for 28,561 clinical trials that stopped before their endpoints were met. We then evaluated these classes in light of the underlying evidence for the therapeutic hypothesis and target properties. We found that trials are more likely to stop because of a lack of efficacy in the absence of strong genetic evidence from human populations or genetically modified animal models. Furthermore, certain trials are more likely to stop for safety reasons if the drug target gene is highly constrained in human populations and if the gene is broadly expressed across tissues. These results support the growing use of human genetics to ...
    Post a Comment
    Read more

    Asexual Ants maintain Genetic Diversity

    How do asexual ants maintain genetic diversity? It’s commonly accepted wisdom that genetic diversity is vital for the survival of a species , and sexual reproduction helps maintain this diversity. But what happens when a species doesn’t reproduce sexually? Usually, it’s a recipe for low genetic diversity and a ticket to extinction. Yet, in the realm of clonal raider ants, this doesn’t seem to be the case. Why so? Genetic diversity of clonal raider ants To give you some context, the clonal raider ant is a blind, queenless creature found in tropical settings around the globe. The species is originally native to Bangladesh and reproduces through parthenogenesis. This type of asexual reproduction results in offspring that inherit two sets of genetically identical chromosomes from the mother – in other words, clone daughters. Now, you’d be forgiven for thinking that this should lead to a drastic loss in genetic diversity and, over time, species collapse . But these resilient little creatu...
    Post a Comment
    Read more