rs10803394 - AGMAT, DNAJC16
Magnitude 2.2 · 3 studies on file
Reported associations
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Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes - Unknown journal (n.d.) · Unknown authors · PubMed 36329257
ABSTRACT: To explore the complex genetic architecture of common diseases and traits, we conducted comprehensive PheWAS of ten diseases and 34 quantitative traits in the community-based Taiwan Biobank (TWB). We identified 995 significantly associated loci with 135 novel loci specific to Taiwanese population. Further analyses highlighted the genetic pleiotropy of loci related to complex disease and associated quantitative traits. Extensive analysis on glycaemic phenotypes (T2D, fasting glucose and HbA1c) was performed and identified 115 significant loci with four novel genetic variants (HACL1, RAD21, ASH1L and GAK). Transcriptomics data also strengthen the relevancy of the findings to metabolic disorders, thus contributing to better understanding of pathogenesis. In addition, genetic risk sc
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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels - Unknown journal (n.d.) · Unknown authors · PubMed 31578528
ABSTRACT: Elevated serum urate levels cause gout and correlate with cardio-metabolic diseases via poorly understood mechanisms. We performed a trans-ethnic genome-wide association study of serum urate among 457,690 individuals, identifying 183 loci (147 novel) that improve prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardio-metabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci, and co-localization with gene expression in 47 tissues implicated kidney and liver as main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in liver and kidney, HNF1
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Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures - Unknown journal (n.d.) · Unknown authors · PubMed 40436827
ABSTRACT: Genome-wide association studies (GWAS) have predominantly focused on European ancestry populations, limiting biological discoveries across diverse populations. Here we report GWAS findings from 153,950 individuals across 36 quantitative traits in the Korean Cancer Prevention Study-II (KCPS2) Biobank. We discovered 301 previously unreported genetic loci in KCPS2, including an association between thyroid-stimulating hormone and CD36. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank identified 4588 loci that were not significant in any contributing GWAS. We describe differences in genetic architectures across these East Asian and European samples. We also highlight East Asian specific associations, including a known pleiotrop
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Diet
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limit high-purine foods if uric acid elevated Moderate
Dietary purines are metabolized to uric acid; reduction may benefit carriers with elevated uric acid levels
if uric acid elevated, limit red meat, organ meats, high-purine seafood; emphasize vegetables, whole grains, dairy
Screening
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baseline kidney function assessment High
SNP strongly associated with elevated creatinine levels; baseline serum creatinine and eGFR measurement establishes phenotypic impact
obtain serum creatinine and calculate eGFR at baseline and annually
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serum uric acid level monitoring Moderate
SNP associated with elevated uric acid; monitoring enables early identification of hyperuricemia and gout risk
obtain baseline serum uric acid; repeat if hyperuricemia symptoms develop