Expressive

rs12199003 - GFRAL

Magnitude 2.2 · 2 studies on file

Reported associations

  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity - Unknown journal (n.d.) · Unknown authors · PubMed 29273807

    ABSTRACT: Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, non-coding variants from which pinpointing causal genes remains challenging. Here, we combined data from 718,734 individuals to discover rare and low-frequency (MAF<5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which eight in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2, ZNF169) newly implicated in human obesity, two (MC4R, KSR2) previously observed in extreme obesity, and two variants in GIPR. Effect sizes of rare variants are ~10 times larger than of common variants, with the largest effect observed in carriers of an MC4R stop-codon (p.Tyr

  • Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects - Unknown journal (n.d.) · Unknown authors · PubMed 39885687

    ABSTRACT: Summary Over the past 30 years, obesity prevalence has markedly increased globally, including among children. Although genome-wide association studies (GWASs) have identified over 1,000 genetic loci associated with obesity-related traits in adults, the genetic architecture of childhood obesity is less well characterized. Moreover, most childhood obesity GWASs have been restricted to severely obese children, in relatively small sample sizes, and in primarily European-ancestry populations. To identify genetic loci associated with early-childhood body mass index (BMI), we performed GWAS of BMI Z scores in eight ancestrally diverse cohorts: ZOE 2.0 cohort, the Santiago Longitudinal Study (SLS), the Vanderbilt University BioVU biobank, the Geisinger MyCode Health Initiative biobank, S

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