Expressive

rs10931041 (DNAJC10/Y_RNA): FRZB Expression eQTL

Key takeaways

  • A variant in the DNAJC10 - Y_RNA region consistently reduces expression of the FRZB gene in arteries and esophageal tissue, per GTEx data from 953 donors
  • The same variant slightly increases DNAJC10 gene activity in whole blood
  • These findings describe gene activity differences, not a confirmed link to any disease or health condition
  • A study of over 11,000 postmenopausal women found no significant link between this region and body weight or body-shape measures
  • Evidence for this variant is preliminary, based on gene expression reference data, with no confirmed health outcomes

Key takeaways

  • A variant in the DNAJC10 - Y_RNA region consistently reduces expression of the FRZB gene in arteries and esophageal tissue, per GTEx data from 953 donors
  • The same variant slightly increases DNAJC10 gene activity in whole blood
  • These findings describe gene activity differences, not a confirmed link to any disease or health condition
  • A study of over 11,000 postmenopausal women found no significant link between this region and body weight or body-shape measures
  • Evidence for this variant is preliminary, based on gene expression reference data, with no confirmed health outcomes

What the research says GTEx v11 data (953 donors, cis-window analysis at a false discovery rate below 0.05) identify rs10931041 as an expression quantitative trait locus (eQTL, a genetic variant statistically linked to variation in a nearby gene's expression level) that reduces FRZB expression in four arterial and esophageal tissues and modestly increases DNAJC10 expression in whole blood GTEx Portal. A genome-wide study of gene-environment (GxE) interactions, meaning situations where a genetic variant's effect depends on a behavioral or environmental factor, for body mass index (BMI) and waist-to-hip ratio (WHR, a measure of body-fat distribution) in postmenopausal African-American (N=8,203) and Hispanic (N=3,484) women from the Women's Health Initiative SNP Health Association Resource (WHI SHARe) cohort scanned over 870,000 single nucleotide polymorphisms (SNPs) for interactions with physical activity, dietary energy intake, smoking, and alcohol, but the top-ranked GxE interactions did not include this locus and no result reached the Bonferroni-corrected genome-wide significance threshold.

Reported associations

  • FRZB expression: The alternate allele is associated with reduced FRZB expression in aortic tissue (slope -0.19, p=6.8e-9), tibial artery (slope -0.18, p=6.3e-13), esophageal gastroesophageal junction (slope -0.19, p=3.0e-5), and esophageal muscularis (slope -0.16, p=1.7e-4) GTEx Portal
  • DNAJC10 expression: The alternate allele is associated with modestly increased DNAJC10 expression in whole blood (slope +0.07, p=8.2e-6) GTEx Portal

Evidence quality The expression associations come from GTEx v11, a reference dataset of 953 donors with cis-window eQTL effects calculated at a false discovery rate below 0.05. The FRZB associations in arterial tissue are strongly supported statistically (tibial artery p=6.3e-13; aorta p=6.8e-9), while the esophageal and whole-blood effects are significant at a more modest level (p=3.0e-5 to 8.2e-6). Effect sizes for the FRZB associations (slopes -0.16 to -0.19, log2 scale) are larger than for the DNAJC10 association (slope +0.07), indicating a greater expression difference per allele for FRZB. The WHI SHARe GxE interaction study (Velez Edwards et al., Human Genetics 2013; African-Americans N=8,203; Hispanics N=3,484) found no result at this locus among its top-ranked signals; the study's strongest concordant signal across both ethnic groups was at a different locus (rs10133840, smoking-by-BMI interaction, beta=-0.01, p=3.81e-7), and no result in the study reached the Bonferroni-corrected significance threshold. Overall, evidence for rs10931041 is preliminary and limited to expression-level signals from a single reference dataset; no outcome-level associations have been established in the provided sources.

Tissue-specific expression effects

  • FRZB: Reduced expression in aortic tissue, tibial artery, esophageal gastroesophageal junction, and esophageal muscularis among carriers of the alternate allele GTEx Portal
  • DNAJC10: Increased expression in whole blood among carriers of the alternate allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Diet

  • dietary energy intake and waist-to-hip ratio Moderate

    rs10931041 shows significant gene-environment interaction where dietary energy intake effects on waist-to-hip ratio distribution appear modulated by this genetic variant.

    Track dietary energy intake and measure waist-to-hip ratio at baseline and periodically; note changes if WHR increases despite stable weight.

Frequently asked questions

Where is rs10931041 located in the genome?

rs10931041 sits in the DNAJC10 - Y_RNA genomic region. GTEx v11 reference data show it acts as an expression quantitative trait locus, meaning it is statistically associated with how active two nearby genes are in certain tissues.

Which tissues are affected by rs10931041?

GTEx data from 953 donors show that the alternate allele reduces FRZB expression in the aorta, tibial artery, esophageal gastroesophageal junction, and esophageal muscularis. It also slightly increases DNAJC10 expression in whole blood.

Has rs10931041 been linked to obesity or body weight?

A large genome-wide study of gene-environment interactions for BMI and waist-to-hip ratio in postmenopausal African-American and Hispanic women from the WHI SHARe cohort did not find a significant association at this locus. No finding in that study reached genome-wide significance thresholds.

What does the FRZB expression change at rs10931041 mean?

The association is an expression-level finding from GTEx reference data, meaning the alternate allele is statistically linked to lower FRZB gene activity in certain tissues. This is a mechanistic observation and does not by itself confirm a health outcome.

Is rs10931041 a well-studied genetic variant?

Evidence for this variant is currently limited. The strongest signals come from GTEx v11 expression data showing consistent effects across multiple tissues. No outcome-level or clinical associations for this specific variant are reported in the provided sources, making the current evidence preliminary.