rs117357201 (MIER2): Body Size and Fat Distribution

Key takeaways

• rs117357201 at the MIER2 locus was identified as a novel genome-wide significant signal for body size and fat distribution traits
• The discovery involved up to 267,616 individuals in a two-stage study using whole-genome sequencing combined with imputation
• The broader study identified 106 previously unreported genetic signals for 12 body-size and composition measures
• Nine of those 106 signals are low-frequency variants pointing to specific functional gene candidates
• Fine mapping resolved 23 of the 106 signals to one or two likely causal variants

What the research says A large-scale genetic study using whole-genome sequencing combined with imputation across up to 267,616 individuals of European descent identified 106 novel genome-wide significant associations (variants meeting a stringent statistical threshold) for anthropometric traits - body measurements correlated with metabolic health - including body mass index (BMI), weight, height, waist circumference, hip circumference, waist-to-hip ratio, total fat mass, total lean mass, and trunk fat mass. rs117357201, at the MIER2 locus, was among these novel signals; 71% of the identified signals reside within genes, and fine mapping resolved 23 signals to one or two likely causal variants. Specific effect sizes and p-values for this exact variant are not detailed in the available study text.

Reported associations

• Anthropometric traits (body size and composition): rs117357201 was reported among 106 novel genome-wide significant signals for body size and fat distribution traits in up to 267,616 individuals of European descent; the specific body-size measure for which the locus shows the strongest association is not specified in the available study text

Evidence quality The study used a two-stage design: a discovery cohort of 57,129 individuals with low-coverage whole-genome sequencing and a reference panel of 9,746 haplotypes for imputation, followed by replication in 210,823 additional individuals. The study examined both common and low-frequency genetic variants across 12 traits. All reported associations met genome-wide significance, a stringent statistical standard in genetic research. The study also found enrichment in cis expression quantitative trait loci (cis-eQTLs, variants that regulate the activity of nearby genes) in tissues relevant to the studied traits, and confirmed genetic overlap between single-gene (monogenic) and multi-gene (polygenic) forms of anthropometric conditions. Fine-mapping status for this specific locus is not noted in the available text, and no individual p-value or effect size for rs117357201 is provided in the available study excerpt.

Lifestyle considerations No lifestyle considerations on file for this variant.