Expressive

rs11097470 (UNC5C): Childhood Obesity Variant

Key takeaways

  • In tibial artery tissue, the alternate allele increases expression of UNC5C-AS1, a noncoding RNA near the UNC5C gene.
  • The only GWAS on record studied this variant in 815 Hispanic children across a broad range of obesity-related traits.
  • No genome-wide significant association for this specific variant is detailed in the available evidence.
  • Evidence is preliminary with no independent replication published.

Key takeaways

  • In tibial artery tissue, the alternate allele at this locus is associated with modestly increased expression of UNC5C-AS1, a noncoding RNA near the UNC5C gene.
  • The single published GWAS linked to this variant studied childhood obesity-related traits in 815 Hispanic children from Houston, Texas, making all findings preliminary.
  • No genome-wide significant associations are explicitly documented for this specific variant in the available study text.
  • Evidence has not been independently replicated; all findings should be treated as early-stage.

What the research says A genome-wide association study (GWAS, a method that tests hundreds of thousands of genetic variants across the genome for statistical links to a trait) of 815 Hispanic children from 263 families examined this locus in the context of childhood obesity and related traits including body composition, blood metabolites, hormones, inflammation, diet, energy expenditure, and physical activity. Gene-expression reference data from a 953-donor tissue panel shows that the alternate allele at this locus is associated with slightly increased expression of UNC5C-AS1 (an antisense noncoding RNA, a molecule that does not encode a protein but may regulate nearby gene activity, transcribed from the strand opposite to UNC5C) specifically in tibial artery tissue GTEx Portal.

Reported associations

  • Childhood obesity-related traits (Hispanic children): This variant was examined in the VIVA LA FAMILIA GWAS, which studied anthropometry, body composition, metabolites, hormones, inflammation markers, diet, energy expenditure, and physical activity in 815 Hispanic children using 1.1 million SNPs; specific per-variant effect sizes and trait-level results for rs11097470 are not detailed in the available study text.
  • UNC5C-AS1 gene expression in tibial artery: The alternate allele is associated with increased expression of UNC5C-AS1 in tibial artery tissue (effect slope +0.15 on a log2-normalized scale, p = 5.6 x 10^-5) GTEx Portal.

Evidence quality Evidence for rs11097470 consists of a single GWAS (VIVA LA FAMILIA Study, PLoS One, 2013, n = 815 Hispanic children) that examined a broad panel of childhood obesity-related phenotypes using 1.1 million SNPs on the Illumina Infinium platform. Because specific association statistics for this variant are not reported in the available study text and no independent replication is on record, the GWAS evidence must be treated as preliminary. The tissue-expression signal from GTEx is based on a larger reference cohort (953 donors, FDR < 0.05) GTEx Portal and is more robustly powered, but an expression QTL (eQTL, a variant that influences how much a gene is expressed) describes a potential molecular mechanism, not a clinical health outcome.

Tissue-specific expression effects

  • UNC5C-AS1: The alternate allele is associated with increased expression of this antisense noncoding RNA in tibial artery tissue; no other tissues reached significance in the available reference data GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11097470?

rs11097470 is a single nucleotide polymorphism (a one-letter change in the DNA) located near the UNC5C gene. It has been examined in a genome-wide study of childhood obesity-related traits in Hispanic children.

Is rs11097470 associated with childhood obesity?

It was included in a GWAS of 815 Hispanic children that studied traits related to childhood obesity, but specific effect sizes and trait-level associations for this variant are not detailed in the available research text. The evidence is preliminary.

What does the GTEx data show for rs11097470?

Gene-expression reference data shows that the alternate allele at rs11097470 is linked to modestly increased expression of UNC5C-AS1, a noncoding RNA near UNC5C, in tibial artery tissue. This is a molecular signal, not a direct health outcome.

How reliable is the evidence for rs11097470?

Evidence is limited to one GWAS study and tissue-expression reference data, neither of which has been independently replicated for this specific variant. All findings should be treated as early-stage.

What is UNC5C-AS1?

UNC5C-AS1 is an antisense noncoding RNA, meaning it is transcribed from the opposite DNA strand relative to the UNC5C gene and does not produce a protein. Noncoding RNAs of this type may play roles in regulating the activity of nearby genes.