rs11217192 - CBL

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-Wide Association Study for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1. - Gastroenterology (2021) · Innes H, Buch S, Hutchinson S, Guha IN, Morling JR, Barnes E, Irving W, Forrest E, Pedergnana V, Goldberg D, Aspinall E, Barclay S, Hayes PC, Dillon J, Nischalke HD, Lutz P, Spengler U, Fischer J, Berg T, Brosch M, Eyer F, Datz C, Mueller S, Peccerella T, Deltenre P, Marot A, Soyka M, McQuillin A, Morgan MY, Hampe J, Stickel F · PubMed 32561361

    Little is known about genetic factors that affect development of alcohol-related cirrhosis. We performed a genome-wide association study (GWAS) of samples from the United Kingdom Biobank (UKB) to identify polymorphisms associated with risk of alcohol-related liver disease. We performed a GWAS of 35,839 participants in the UKB with high intake of alcohol against markers of hepatic fibrosis (FIB-4, APRI, and Forns index scores) and hepatocellular injury (levels of aminotransferases). Loci identified in the discovery analysis were tested for their association with alcohol-related cirrhosis in 3 separate European cohorts (phase 1 validation cohort; n=2545). Variants associated with alcohol-related cirrhosis in the validation at a false discovery rate of less than 20% were then directly genotyp

  • Genetic analysis of over half a million people characterises C-reactive protein loci - Unknown journal (n.d.) · Unknown authors · PubMed 35459240

    ABSTRACT: Chronic low-grade inflammation is linked to a multitude of chronic diseases. We report the largest genome-wide association study (GWAS) on C-reactive protein (CRP), a marker of systemic inflammation, in UK Biobank participants (N = 427,367, European descent) and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium (total N = 575,531 European descent). We identify 266 independent loci, of which 211 are not previously reported. Gene-set analysis highlighted 42 gene sets associated with CRP levels (p ≤ 3.2 ×10−6) and tissue expression analysis indicated a strong association of CRP related genes with liver and whole blood gene expression. Phenome-wide association study identified 27 clinical outcomes associated with genetically determi


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Lifestyle context

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

Bloodwork

  • liver function tests for high alcohol consumers Moderate

    rs11217192 T allele associates with elevated AST-platelet ratio in high alcohol intake (n=33,330), suggesting higher liver fibrosis risk

    Annual liver panel (ALT, AST, GGT, platelets) if consuming more than 1-2 alcoholic drinks daily

Diet

  • anti-inflammatory dietary pattern Moderate

    T allele carriers show elevated C-reactive protein; anti-inflammatory foods can help lower CRP levels

    Mediterranean diet or similar - emphasize vegetables, fish, whole grains, olive oil, limit processed foods

Screening

  • C-reactive protein (CRP) level Moderate

    rs11217192 T allele associates with higher C-reactive protein in 575,531 subjects, a marker linked to cardiovascular disease risk

    Baseline CRP measurement, then annually or per physician guidance