rs11673591 - PCAT19

Magnitude 2.2 · 7 studies on file

Reported associations

• Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women. - Endocrinology (2022) · Haas CB, Hsu L, Lampe JW, Wernli KJ, Lindström S · PubMed 35192695

  Concentrations of circulating sex hormones have been associated with a variety of diseases in women and are strongly influenced by menopausal status. We investigated the genetic architectures of circulating concentrations of estradiol, testosterone, and SHBG by menopausal status in women of European and African ancestry. Using data on 229 966 women from the UK Biobank, we conducted genome-wide association studies (GWASs) of circulating concentrations of estradiol, testosterone, and SHBG in premenopausal and postmenopausal women. We tested for evidence of heterogeneity of genetic effects by menopausal status and genetic ancestry. We conducted gene-based enrichment analyses to identify tissues in which genes with GWAS-enriched signals were expressed. We identified 4 loci (5q35.2, 12q14.3, 19

• Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum - Unknown journal (n.d.) · Unknown authors · PubMed 40229599

  ABSTRACT: Genome-wide association studies (GWASs) may help inform the etiology of infertility. Here, we perform GWAS meta-analyses across seven cohorts in up to 42,629 cases and 740,619 controls and identify 25 genetic risk loci for male and female infertility. We additionally identify up to 269 genetic loci associated with follicle-stimulating hormone, luteinizing hormone, estradiol and testosterone through sex-specific GWAS meta-analyses (n = 6,095-246,862). Exome sequencing analyses reveal that women carrying testosterone-lowering rare variants in some genes are at risk of infertility. However, we find no local or genome-wide genetic correlation between female infertility and reproductive hormones. While infertility is genetically correlated with endometriosis and polycystic ovary

• Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis - Unknown journal (n.d.) · Unknown authors · PubMed 37340002

  ABSTRACT: Integrating genomic data of multiple cancers allows de novo cancer grouping and elucidating the shared genetic basis across cancers. Here, we conduct the pan-cancer and cross-population genome-wide association study (GWAS) meta-analysis and replication studies on 13 cancers including 250,015 East Asians (Biobank Japan) and 377,441 Europeans (UK Biobank). We identify ten cancer risk variants including five pleiotropic associations (e.g., rs2076295 at DSP on 6p24 associated with lung cancer and rs2525548 at TRIM4 on 7q22 nominally associated with six cancers). Quantifying shared heritability among the cancers detects positive genetic correlations between breast and prostate cancer across populations. Common genetic components increase the statistical power, and the large-scale meta

• Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction - Unknown journal (n.d.) · Unknown authors · PubMed 33398198

  ABSTRACT: Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 [95% confidence interval (CI) 4.84-5.29] for men of European ancestry to 3.74 [95% CI 3.36-4.17] for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher [95% CI 2.14-2.22], and men of East Asian ancestry 0.73-times lower [95% CI 0.71-0.76]

• Using human genetics to understand the disease impacts of testosterone in men and women - Unknown journal (n.d.) · Unknown authors · PubMed 32042192

  ABSTRACT: Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown. To better understand this, we identified genetic determinants of testosterone levels and related sex hormone traits in 425,097 UK Biobank study participants. Using 2,571 genome-wide significant associations, we demonstrate the genetic determinants of testosterone levels are substantially different between sexes, and that genetically higher testosterone is harmful for metabolic diseases in women but beneficial in men. For example, a genetically determined 1-standard deviation higher testosterone increases the risks of Type 2 diabetes (T2D) (OR=1.37 [1.22-1.53]) and polycystic ovary syndrome (OR=1.51 [1.33-1.72]) in

• Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants - Unknown journal (n.d.) · Unknown authors · PubMed 37945903

  [INTRO] Introduction [INTRO] The transferability and clinical value of genetic risk scores (GRS) across populations remains limited due to an imbalance in genetic studies across ancestrally diverse populations. We conducted a multi-ancestry genome-wide association study (GWAS) of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian, and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer GWAS. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation (SD)) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a gre

• Genetic analyses implicate complex links between adult testosterone levels and health and disease - Unknown journal (n.d.) · Unknown authors · PubMed 36653534

  ABSTRACT: Background Testosterone levels are linked with diverse characteristics of human health, yet, whether these associations reflect correlation or causation remains debated. Here, we provide a broad perspective on the role of genetically determined testosterone on complex diseases in both sexes. Methods Leveraging genetic and health registry data from the UK Biobank and FinnGen (total N = 625,650), we constructed polygenic scores (PGS) for total testosterone, sex-hormone binding globulin (SHBG) and free testosterone, associating these with 36 endpoints across different disease categories in the FinnGen. These analyses were combined with Mendelian Randomization (MR) and cross-sex PGS analyses to address causality. Results We show testosterone and SHBG levels are intricately tied t

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.