Expressive

rs12423939 (LINC00938): Body Shape GWAS Variant

Key takeaways

  • rs12423939 lies near LINC00938, a long non-coding RNA gene that does not produce a protein
  • It was flagged in a GWAS of body-shape measures in over 400,000 UK Biobank participants
  • The study used allometric indices that adjust waist and hip size for both height and weight, not just BMI
  • Specific effect sizes for this variant are not reported in the available study text, so evidence is preliminary

Key takeaways

  • rs12423939 lies near U6 (a small nuclear RNA involved in RNA splicing) and LINC00938 (a long intergenic non-coding RNA, meaning a gene that is transcribed into RNA but does not produce a protein)
  • This variant was identified in a large genome-wide association study (GWAS) of allometric body-shape indices, which are measures of waist and hip size mathematically adjusted for both height and body weight
  • The study drew on over 400,000 UK Biobank participants of white British ancestry, making it one of the largest body-shape genetic analyses conducted at the time of publication
  • Specific effect sizes for this variant are not present in the available study text, and evidence should be treated as preliminary

What the research says A GWAS examined three allometric body-shape indices - A Body Shape Index (ABSI, reflecting waist circumference relative to height and weight), Hip Index (HI), and Waist-to-Hip Index (WHI) - using UK Biobank data from 219,872 women and 186,825 men of white British ancestry, analyzed with Bayesian linear mixed-models (BOLT-LMM). The study framed allometric indices as a methodological improvement over traditional body-shape measures, which retain correlations with height even after standard BMI adjustment, and one to two thirds of the loci identified for these allometric indices were described as novel. Genetic associations were fewer overall in men than in women across all indices examined.

Reported associations

  • Allometric body-shape indices (ABSI, HI, WHI): rs12423939, located in the U6 - LINC00938 region, was flagged in the context of a genome-wide scan of allometric body-shape measures in a sample of over 400,000 UK Biobank participants; variant-level effect size statistics are not reported in the available study text.

Evidence quality This variant was identified in a single large GWAS (UK Biobank, n=406,697 combined, white British ancestry). BOLT-LMM was used for association testing, and Functional Mapping and Annotation (FUMA) was used to consolidate independent loci. Because the available study text does not include variant-level statistics for rs12423939 specifically - such as beta coefficients, odds ratios, or p-values - the magnitude of the association cannot be precisely characterized. Replication in independent cohorts is not described in the available material. Evidence is therefore preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs12423939?

rs12423939 is a single nucleotide polymorphism (SNP), a common type of genetic variation where a single DNA letter differs between people, located near the genes U6 and LINC00938.

What is the LINC00938 gene?

LINC00938 is a long intergenic non-coding RNA gene, meaning it is transcribed from DNA into RNA but does not go on to produce a protein. Its specific biological role is not characterized in the available literature.

Is rs12423939 linked to body weight or obesity?

It was identified in a genome-wide study of allometric body-shape indices, which measure waist and hip proportions relative to height and weight rather than body weight itself. Specific effect sizes for this variant are not available in the study text reviewed.

How large was the study that identified rs12423939?

The study used UK Biobank data from 219,872 women and 186,825 men of white British ancestry, totaling over 400,000 participants.

What does allometric body-shape index mean?

An allometric body-shape index is a measure of waist or hip size that has been mathematically adjusted for both height and body weight, separating body shape from overall body size and general adiposity (fatness) in a way that standard BMI adjustment does not achieve.