Expressive

rs10954650 - HIPK2

Magnitude 2.0 · 2 studies on file

Reported associations

  • Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance - Scientific reports (2020) · Al-Khelaifi F, Diboun I, Donati F, Botrè F, Abraham D, Hingorani A, Albagha O, Georgakopoulos C, Suhre K, Yousri NA, Elrayess MA · PubMed 31882771

    ABSTRACT: Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants. The aims of this study were to identify genetic predisposition to elite athletic performance by investigating genetically-influenced metabolites that discriminate elite athletes from non-elite athletes and to identify those associated with endurance sports. By conducting a genome wide association study with high-resolution metabolomics profiling in 490 elite athletes, common variant metabolic quantitative trait loci (mQTLs) were identified and compared with previously identified mQTLs in non-elite athletes. Among the identified mQTLs, those associated with endurance metabolites were determined. Two novel genetic loci in

  • Response to Intravenous Cyclophosphamide Treatment for Lupus Nephritis Associated with Polymorphisms in the FCGR2B-FCRLA Locus. - The Journal of rheumatology (2017) · Kim K, Bang SY, Joo YB, Kim T, Lee HS, Kang C, Bae SC · PubMed 26980576

    Cyclophosphamide (CYC) is an immunosuppressant drug widely used to treat various diseases including lupus nephritis, but its efficacy highly varies from individual to individual. This pharmacogenomics association study searched for genetic variations associated with CYC efficacy. Genome-wide association scan was performed for 109 Korean patients with systemic lupus erythematosus with lupus nephritis (classes III-V) who received intravenous CYC induction therapy. Genetic differences between responders and nonresponders were examined using Cochran-Armitage trend tests, and genotype imputation was used for defining the association locus. Genetic polymorphisms in the Fcγ receptor gene (FCGR) cluster at human chromosome 1q23, previously associated with lupus nephritis susceptibility, were asso

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