Expressive

rs114666647 (ACVR1C): Body Shape Index Variant

Key takeaways

  • rs114666647 in the ACVR1C locus was identified in a GWAS of body-shape measures that are independent of both height and BMI
  • The study covered more than 400,000 UK Biobank participants of white British ancestry
  • Between one and two thirds of the allometric body-shape loci in the study were novel, not previously reported in GWAS catalogs
  • Genes related to morphogenesis and organogenesis were among the most prominent categories across the study findings
  • Genetic associations with body shape were fewer in men than in women in this dataset

Key takeaways

  • rs114666647 is a variant in the ACVR1C locus identified in a UK Biobank genome-wide association study of allometric body-shape measures that are independent of both height and BMI
  • The study covered 219,872 women and 186,825 men of white British ancestry - more than 400,000 participants total
  • Between one and two thirds of the allometric body-shape loci found in the study were novel findings, consistent with this being a previously unreported association
  • Genes related to morphogenesis and organogenesis were among the most prominent categories in the study's findings
  • Genetic associations with body-shape measures were fewer in men than in women across this cohort

What the research says rs114666647 is a single nucleotide polymorphism (SNP - a single-letter change at a fixed position in the DNA sequence) located within the ACVR1C locus, identified in a genome-wide association study (GWAS) of allometric body-shape indices conducted in the UK Biobank using 219,872 women and 186,825 men of white British ancestry. The study applied Bayesian linear mixed-models (BOLT-LMM) to test associations with A Body Shape Index (ABSI), Hip Index (HI), and a new Waist-to-Hip Index (WHI) - all measures designed to be statistically independent of both height and BMI - and reported that between one and two thirds of the loci identified for these allometric indices were novel. Across the study, highly ranked genes were related to morphogenesis (the biological process that governs the development of body shape) and organogenesis (the formation of organs during development).

Reported associations

  • Allometric body-shape indices: rs114666647 in the ACVR1C locus was identified in a GWAS of ABSI (a waist-based allometric body-shape measure), HI (a hip-based measure), and WHI in a UK Biobank cohort of over 400,000 participants; specific effect sizes for this variant were not included in the available study text

Evidence quality The study included 219,872 women and 186,825 men of white British ancestry from the UK Biobank, representing a large sample for body-shape genetics research. BOLT-LMM, a validated Bayesian approach for large-scale GWAS, was used throughout. The observation that one to two thirds of allometric body-shape loci were novel is consistent with rs114666647 being a newly reported association. Specific p-values, effect sizes, and allele frequency for this particular variant were not reported in the available portions of the study text, which limits precise evaluation of association strength. Overall genetic associations with body-shape measures were fewer in men than in women in this cohort, though whether this asymmetry extends to this specific locus was not stated. The study was limited to participants of white British ancestry, which may reduce generalizability to other populations.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs114666647?

rs114666647 is a single-letter DNA variant (SNP) in the ACVR1C gene region. It was identified in a large genome-wide association study of allometric body-shape measures conducted in the UK Biobank.

What body traits is rs114666647 associated with?

rs114666647 was found in a study examining allometric body-shape indices - measures of waist and hip shape that are adjusted for both height and BMI. These include A Body Shape Index (ABSI), Hip Index (HI), and a Waist-to-Hip Index (WHI).

What is an allometric body-shape index?

An allometric body-shape index quantifies body shape by accounting for how waist and hip sizes naturally scale with both height and body weight. Unlike BMI or a simple waist-to-hip ratio, these indices are designed to be independent of overall body size.

What is the ACVR1C gene?

ACVR1C is the gene at this chromosomal locus. The study that identified rs114666647 highlighted genes related to morphogenesis and organogenesis as prominent findings, and ACVR1C is among the novel loci in that category.

How large was the study that identified rs114666647?

The study enrolled 219,872 women and 186,825 men of white British ancestry from the UK Biobank, totaling more than 400,000 participants. Bayesian linear mixed-models were used to test associations across the genome.