Expressive

rs121907892 - SLC22A12

Magnitude 2.2 · 6 studies on file

Reported associations

  • A cross-population atlas of genetic associations for 220 human phenotypes. - Nature genetics (2021) · Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y · PubMed 34594039

    Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 deep-phenotype genome-wide association studies (diseases, biomarkers and medication usage) in BioBank Japan (n = 179,000), by incorporating past medical history and text-mining of electronic medical records. Meta-analyses with the UK Biobank and FinnGen (n = 628,000) identified ~5,000 new loci, which improved the resolution of the genomic map of human traits. This atlas elucidated the landscape of pleiotropy as represented by the major histocompatibility complex locus, where we conducted HLA fine-mapping. Finally, we performed statistical decomposition of matrices of phenome-wid

  • 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

  • Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population - Unknown journal (n.d.) · Unknown authors · PubMed 29124443

    ABSTRACT: Chronic kidney disease and hyperuricemia are serious global health problems. Recent genome-wide association studies have identified various genetic variants related to these disorders. However, most studies have been conducted in a cross-sectional manner. To identify novel susceptibility loci for chronic kidney disease or hyperuricemia, we performed longitudinal exome-wide association studies (EWASs), using ~ 244,000 genetic variants and clinical data of Japanese individuals who had undergone annual health checkups for several years. After establishing quality controls, the association of renal function-related traits in 5648 subjects (excluding patients with dialysis and population outliers) with 24,579 single nucleotide variants (SNVs) for three genetic models (P < 3.39

  • Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population - Unknown journal (n.d.) · Unknown authors · PubMed 39702642

    ABSTRACT: To improve imputation quality for genome-wide association studies (GWAS) conducted on the Japanese population, we developed and evaluated four Japanese population-specific reference panels. These panels were constructed through the augmentation of the 1000 Genomes Project (1KG) panel using Japanese whole genome sequencing (WGS) data, with sample sizes ranging from 1 K to 7 K individuals enrolled through the Biobank Japan (BBJ) project, and sequencing depths ranging from 3× to 30×. Among these panels, an augmented reference panel comprising 7472 WGS samples of mixed depth (1KG+7K) exhibit the greatest improvement in imputation quality relative to the Trans-Omics for Precision Medicine (TOPMed) reference panel. Notably, we observe these improvements primarily for rare variant

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