rs1222925 - XRCC6P1 - RPL17P34

Magnitude 2.0 · 5 studies on file

Reported associations

• Genetic analyses implicate complex links between adult testosterone levels and health and disease - Communications medicine (2026) · Leinonen JT, Mars N, Lehtonen LE, Ahola-Olli A, Ruotsalainen S, Lehtimäki T, Kähönen M, Raitakari O, Piltonen T, Daly M, Tuomi T, Ripatti S, Pirinen M, Tukiainen T · 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

• Genetic Architecture of Trans-Laminar Cribrosa Pressure Difference and Primary Open-Angle Glaucoma - Investigative ophthalmology & visual science (2026) · Hong IS, Cho C, Kim B, Shim I, Lee YC, Jung SH, Song M, Park S, Hong S, Jo H, Kim H, Seo JH, Won HH · PubMed 42017308

  ABSTRACT: Purpose The purpose of this study was to investigate whether the genetic architecture of translaminar cribrosa pressure difference (TLCPD) provides genetic insights based on dual-pressure theory beyond intraocular pressure (IOP) and whether a TLCPD-based polygenic risk score (PRS) predicts primary open-angle glaucoma (POAG) risk and its pleiotropic effects. Methods The genome-wide association study (GWAS) of TLCPD was conducted in 82,147 individuals of European ancestry from the UK Biobank (UKBB). Functional enrichment analysis and colocalization analysis were performed to identify associated genes, tissues, and pathways. PRS was calculated in an independent set of 268,734 unrelated European-ancestry individuals not included in the TLCPD GWAS. A survival analysis was utilized to

• GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - HGG advances (2025) · Sun Y, Xu H, Ye K · PubMed 40545721

  ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

• Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Science (New York, N.Y.) (2024) · Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F, Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP · PubMed 39024449

  ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

• Pleiotropic genetic architecture and novel loci for C-reactive protein levels - Nature communications (2022) · Koskeridis F, Evangelou E, Said S, Boyle JJ, Elliott P, Dehghan A, Tzoulaki I · PubMed 36376304

  ABSTRACT: C-reactive protein is involved in a plethora of pathophysiological conditions. Many genetic loci associated with C-reactive protein are annotated to lipid and glucose metabolism genes supporting common biological pathways between inflammation and metabolic traits. To identify novel pleiotropic loci, we perform multi-trait analysis of genome-wide association studies on C-reactive protein levels along with cardiometabolic traits, followed by a series of in silico analyses including colocalization, phenome-wide association studies and Mendelian randomization. We find 41 novel loci and 19 gene sets associated with C-reactive protein with various pleiotropic effects. Additionally, 41 variants colocalize between C-reactive protein and cardiometabolic risk factors and 12 of them display

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