rs11065950 - ATXN2

Magnitude 2.2 · 3 studies on file

Reported associations

  • A genome-wide association study on adherence to low-carbohydrate diets in Japanese. - European journal of clinical nutrition (2022) · Nakamura Y, Tamura T, Narita A, Shimizu A, Sutoh Y, Takashima N, Matsui K, Miyagawa N, Kadota A, Miura K, Otonari J, Ikezaki H, Hishida A, Nagayoshi M, Okada R, Kubo Y, Tanaka K, Shimanoe C, Ibusuki R, Nishimoto D, Oze I, Ito H, Ozaki E, Matsui D, Mikami H, Kusakabe M, Suzuki S, Watanabe M, Arisawa K, Katsuura-Kamano S, Kuriki K, Nakatochi M, Momozawa Y, Kubo M, Takeuchi K, Wakai K · PubMed 35132194

    Low-carbohydrate diets (LCD) are useful for weight reduction, and 50-55% carbohydrate consumption is associated with minimal risk. Genetic differences were related to nutritional consumption, food preferences, and dietary patterns, but whether particular genetic differences in individuals influence LCD adherence is unknown. We conducted a GWAS on adherence to LCD utilizing 14,076 participants from the Japan Multi-Institutional Collaborative Cohort study. We used a previously validated semiquantitative food frequency questionnaire to estimate food consumption. Association of the imputed variants with the LCD score by Halton et al. we used linear regression analysis adjusting for sex, age, total dietary energy consumption, and components 1 to 10 by principal component analysis. We repeated t

  • Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants - Unknown journal (n.d.) · Unknown authors · PubMed 37919891

    ABSTRACT: Background Chronic kidney disease is a significant health burden worldwide, with increasing incidence. Although several genome-wide association studies (GWAS) have investigated single nucleotide polymorphisms (SNP) associated with kidney trait, most studies were focused on European ancestry. Methods We utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES). Results More than five million SNPs from 58,406 participants were analyzed. After meta-GWAS, 1,360 loci associated with estimated glomerular filtration rate (eGFR) at a genome-wide significant level (p = 5 × 10-8) were identified. Among them, 399 loci were validated with at least one other biomarker (blood urea nitrogen [BUN] or eGFRcysC) and 149 loci were validated using b

  • Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population - Unknown journal (n.d.) · Unknown authors · PubMed 40465716

    ABSTRACT: We addressed the underrepresentation of non-European populations in genome-wide association studies (GWASs) by building HiGenome, a large-scale genetic resource for the Taiwanese Han population. Using a custom genotyping array, we integrated deidentified electronic medical records (2003 to 2021) with genomic data to enable GWASs, phenome-wide association studies, and polygenic risk score (PRS) analysis. Among 413,000 participants, 323,397 passed ancestry and quality control filtering. GWASs covered 1085 traits, focusing on diseases prevalent in Taiwan such as type 2 diabetes, chronic kidney disease, gout, and alcoholic liver damage. PRSs were calculated for 238 traits, with the strongest associations observed in musculoskeletal disorders. Incorporating PRS into clinical practice


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Diet

  • low-carbohydrate diet approach Moderate

    Genetic variant strongly associated with low-carbohydrate diet adherence and metabolic response; C allele carriers demonstrate enhanced adaptation to carbohydrate restriction

    Consider structured low-carbohydrate approach targeting 40-50g net carbs per day to align with genetic predisposition

    • GWAS_CATALOG:35132194

Screening

  • serum uric acid for gout risk management Moderate

    Genetic variant associated with increased gout susceptibility; uric acid elevation is primary driver of gout pathogenesis and is modifiable through diet and hydration

    Annual serum uric acid testing; maintain hydration 3+ liters daily and consider purine-restricted diet if uric acid exceeds 7.0 mg/dL

    • GWAS_CATALOG:40465716