rs1017303584 - PPM1H
Magnitude 4.5 · 1 study on file
Reported associations
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Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes. - Communications biology (2022) · Lee CJ, Chen TH, Lim AMW, Chang CC, Sie JJ, Chen PL, Chang SW, Wu SJ, Hsu CL, Hsieh AR, Yang WS, Fann CSJ · PubMed 36329257
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 HbA ) 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 scores are co
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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kidney function and albuminuria Moderate
PPM1H variant is associated with elevated urinary microalbumin, a marker of early kidney disease and cardiovascular risk
Annual assessment of serum creatinine and urine albumin-to-creatinine ratio
- GWAS_CATALOG:36329257