rs10773051 - RFLNA

Magnitude 2.2 · 4 studies on file

Reported associations

• Investigation of the impact of gynoid fat on steatotic and advanced liver diseases-Genomic and clinical perspectives from a large-scale population cohort. - Clinical nutrition (Edinburgh, Scotland) (2025) · Liu Z, Chen H, Du H, Lin G, Tu T, Wan Z, Zhao N, Li G, Tang B, Wu H, Bai X, Wang QL, Mi J · PubMed 41314110

  Gynoid fat (hip-thigh subcutaneous adiposity) is metabolically favorable, yet its genetic architecture and impact on liver diseases are unknown. We aimed to identify genetic determinants of gynoid tissue fat percentage (GTFP) and explore their clinical implications to liver disease. We conducted a genome-wide association study (GWAS) in 37,385 European individuals from the UK Biobank to identify genetic variants associated with GTFP. A polygenic risk score (PRS) was then derived for GTFP. Post-GWAS analyses, including colocalization, transcriptome-wide association studies (TWAS), logistic regression models, and interaction analyses, were employed to assess the impact of GTFP indicated by PRS on alcoholic and non-alcoholic fatty liver disease (NAFLD), metabolic dysfunction associated steato

• The genetics of a "femaleness/maleness" score in cardiometabolic traits in the UK biobank - Unknown journal (n.d.) · Unknown authors · PubMed 37277458

  ABSTRACT: We recently devised continuous "sex-scores" that sum up multiple quantitative traits, weighted by their respective sex-difference effect sizes, as an approach to estimating polyphenotypic "maleness/femaleness" within each binary sex. To identify the genetic architecture underlying these sex-scores, we conducted sex-specific genome-wide association studies (GWASs) in the UK Biobank cohort (females: n = 161,906; males: n = 141,980). As a control, we also conducted GWASs of sex-specific "sum-scores", simply aggregating the same traits, without weighting by sex differences. Among GWAS-identified genes, while sum-score genes were enriched for genes differentially expressed in the liver in both sexes, sex-score genes were enriched for genes differentially expressed

• GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer - Unknown journal (n.d.) · Unknown authors · PubMed 34021172

  ABSTRACT: Genetic studies have examined body-shape measures adjusted for body mass index (BMI), while allometric indices are additionally adjusted for height. We performed the first genome-wide association study of A Body Shape Index (ABSI), Hip Index (HI) and the new Waist-to-Hip Index and compared these with traditional indices, using data from the UK Biobank Resource for 219,872 women and 186,825 men with white British ancestry and Bayesian linear mixed-models (BOLT-LMM). One to two thirds of the loci identified for allometric body-shape indices were novel. Most prominent was rs72959041 variant in RSPO3 gene, expressed in visceral adipose tissue and regulating adrenal cell renewal. Highly ranked were genes related to morphogenesis and organogenesis, previously additionally linked to can

• GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - Unknown journal (n.d.) · Unknown authors · 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

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