Expressive

rs117925626 - MAP4K2

Magnitude 2.2 · 4 studies on file

Reported associations

  • A genome-wide study on gene-nutrient interactions for hyperuricemia in a large Korean cohort (KoGES) - Unknown journal (n.d.) · Unknown authors · PubMed 40835619

    ABSTRACT: This study aimed to identify novel genetic variants associated with hyperuricemia risk across multiple nutrients by assessing significant gene-nutrient interactions using large-scale genome-wide association study (GWAS) data in the Korean population. A total of 48,007 individuals from the Korean Genome and Epidemiology Study dataset were included in the GWAS. Dietary intake was evaluated using a food frequency questionnaire. To identify genomic loci that interact with specific nutrients influencing hyperuricemia risk, we conducted a GWAS followed by gene-nutrient interaction analyses of genome-wide significant single-nucleotide polymorphisms (SNPs). Two SNPs with significant gene-nutrient interactions for specific nutrients were identified: rs113206751 in the Membrane-Assoc

  • Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups - Unknown journal (n.d.) · Unknown authors · PubMed 38626723

    ABSTRACT: Abstract Background Phenome-wide association studies (PheWASs) have been conducted on Asian populations, including Koreans, but many were based on chip or exome genotyping data. Such studies have limitations regarding whole genome-wide association analysis, making it crucial to have genome-to-phenome association information with the largest possible whole genome and matched phenome data to conduct further population-genome studies and develop health care services based on population genomics. Results Here, we present 4,157 whole genome sequences (Korea4K) coupled with 107 health check-up parameters as the largest genomic resource of the Korean Genome Project. It encompasses most of the variants with allele frequency >0.001 in Koreans, indicating that it sufficiently covered mos

  • Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals - Unknown journal (n.d.) · Unknown authors · PubMed 32514006

    ABSTRACT: Increased serum uric acid (SUA) levels cause gout and are associated with multiple diseases, including chronic kidney disease. Previous genome-wide association studies (GWAS) have identified more than 180 loci that contribute to SUA levels. Here, we investigated genetic determinants of SUA level in the Korean population. We conducted a GWAS for SUA in 6,881 Korean individuals, calculated polygenic risk scores (PRSs) for common variants, and validated the association of low-frequency variants and PRS with SUA levels in 3,194 individuals. We identified two low-frequency and six common independent variants associated with SUA. Despite the overall similar effect sizes of variants in Korean and European populations, the proportion of variance for SUA levels explained by the variants w

  • Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits - Unknown journal (n.d.) · Unknown authors · PubMed 35121771

    ABSTRACT: The expanding use of the phenome-wide association study (PheWAS) faces challenges in the context of using International Classification of Diseases billing codes for phenotype definition, imbalanced study population ethnicity, and constrained application of the results in research. We performed a PheWAS utilizing 136 deep phenotypes corroborated by comprehensive health check-ups in a Korean population, along with trans-ethnic comparisons through using the UK Biobank and Biobank Japan Project. Meta-analysis with Korean and Japanese population was done. The PheWAS associated 65 phenotypes with 14,101 significant variants (P < 4.92 × 10-10). Network analysis, visualization of cross-phenotype mapping, and causal inference mapping with Mendelian randomization were conducted.

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