Expressive

rs10097617 - NDUFAF6

Magnitude 2.2 · 2 studies on file

Reported associations

  • Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps - Unknown journal (n.d.) · Unknown authors · PubMed 30297969

    ABSTRACT: We aggregated genome-wide genotyping data from 32 European-descent GWAS (74,124 T2D cases, 824,006 controls) imputed to high-density reference panels of >30,000 sequenced haplotypes. Analysis of ˜27M variants (˜21M with minor allele frequency [MAF]<5%), identified 243 genome-wide significant loci (p<5x10-8; MAF 0.02%-50%; odds ratio [OR] 1.04-8.05), 135 not previously-implicated in T2D-predisposition. Conditional analyses revealed 160 additional distinct association signals (p<10-5) within the identified loci. The combined set of 403 T2D-risk signals includes 56 low-frequency (0.5%≤MAF<5%) and 24 rare (MAF<0.5%) index SNPs at 60 loci, including 14 with estimated allelic OR>2. Forty-one of the signals displayed effect-size heterogeneity between BMI-unadjusted and adjusted anal

  • Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis - Unknown journal (n.d.) · Unknown authors · PubMed 32541925

    ABSTRACT: We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ethnic meta-analysis of 228,499 cases and 1,178,783 controls in the Million Veteran Program, DIAMANTE, Biobank Japan, and other studies. We report 568 associations, including 286 autosomal, 7 X chromosomal, and 25 identified in ancestry-specific analyses that were previously unreported. Transcriptome-wide association analysis detected 3,568 T2D-associations with genetically predicted gene expression in 687 novel genes; of these, 54 are known to interact with FDA-approved drugs. A polygenic risk score was strongly associated with increased risk of T2D-related retinopathy and modestly associated with chronic kidney disease (CKD), peripheral artery disease (PAD), and neuropathy. We investigated the genetic etiolo

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Diet

  • prioritize low glycemic index carbohydrates Moderate

    NDUFAF6 variants impair glucose handling; refined carbohydrates increase metabolic demand on already-compromised mitochondrial capacity

    emphasize whole grains, legumes, vegetables; limit refined sugars, white bread, processed carbohydrates

Exercise

  • regular aerobic and resistance exercise Moderate

    Exercise enhances mitochondrial biogenesis and insulin sensitivity, compensating for NDUFAF6-associated dysfunction

    aim for 150+ minutes weekly moderate-intensity aerobic activity; 2+ sessions weekly of resistance training

Screening

  • Type 2 diabetes screening High

    rs10097617 associated with Type 2 diabetes in large GWAS; NDUFAF6 encodes mitochondrial complex I assembly factor, crucial for glucose metabolism

    fasting glucose and HbA1c; baseline by age 40; repeat every 1-3 years or if symptomatic