Expressive

rs11200392 (TACC2): Skin Expression Variant

Key takeaways

  • rs11200392 reduces TACC2 expression in skin tissue, with very strong statistical support from GTEx data from 953 donors
  • The same variant increases expression of NSMCE4A, ATE1, and BTBD16 in skin
  • All currently documented effects are skin-specific gene-expression changes, not direct disease associations
  • Evidence is limited to eQTL data; no clinical or lifestyle implications have been established from the available sources

Key takeaways

  • rs11200392 reduces TACC2 expression in skin tissue, with very strong statistical support from GTEx data from 953 donors
  • The same variant increases expression of NSMCE4A, ATE1, and BTBD16 in skin
  • All currently documented effects are skin-specific gene-expression changes, not direct disease associations
  • Evidence is limited to eQTL data; no clinical or lifestyle implications have been established from the available sources

What the research says rs11200392 functions as an expression quantitative trait locus (eQTL) - a genetic variant that influences how much of a gene is produced in a given tissue - with its strongest documented effects in skin, where it reduces TACC2 expression in both non-sun-exposed suprapubic skin (slope -0.19, p=2.1e-22) and sun-exposed lower leg skin (slope -0.16, p=1.0e-21) based on GTEx v11 data from 953 donors GTEx Portal. The same variant is also associated with increased expression of NSMCE4A in both skin subtypes and increased expression of ATE1 and BTBD16 in sun-exposed skin GTEx Portal.

Reported associations

  • TACC2 expression, non-sun-exposed skin: reduced expression (slope -0.19, p=2.1e-22, GTEx v11 n=953) GTEx Portal
  • TACC2 expression, sun-exposed skin: reduced expression in lower leg skin (slope -0.16, p=1.0e-21, GTEx v11 n=953) GTEx Portal
  • NSMCE4A expression, sun-exposed skin: increased expression (slope +0.12, p=7.0e-8) GTEx Portal
  • NSMCE4A expression, non-sun-exposed skin: increased expression (slope +0.12, p=1.9e-7) GTEx Portal
  • ATE1 expression, sun-exposed skin: increased expression (slope +0.12, p=5.0e-7) GTEx Portal
  • BTBD16 expression, sun-exposed skin: increased expression (slope +0.11, p=1.8e-4) GTEx Portal

Evidence quality All association data come from GTEx v11, a curated reference dataset covering 953 donors with cis-window analysis at FDR<0.05 GTEx Portal. The TACC2 eQTL effects reach p=2.1e-22 and p=1.0e-21 across the two skin subtypes, placing them among the strongest associations in this dataset. The NSMCE4A effects (p=7.0e-8 and p=1.9e-7) and ATE1 effect (p=5.0e-7) also reach genome-wide significance levels; the BTBD16 association (p=1.8e-4) is the weakest of the four but still passes GTEx's FDR<0.05 threshold. No conflicting findings are present among the GTEx entries for this variant. No replication studies or clinical outcome associations for this locus are documented in the available sources, placing the current evidence in the category of preliminary mechanism rather than established clinical finding.

Tissue-specific expression effects

  • TACC2: reduced expression in both non-sun-exposed suprapubic skin and sun-exposed lower leg skin GTEx Portal
  • NSMCE4A: increased expression in both sun-exposed and non-sun-exposed skin GTEx Portal
  • ATE1: increased expression in sun-exposed lower leg skin GTEx Portal
  • BTBD16: increased expression in sun-exposed lower leg skin 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

  • Nutritional pattern supporting healthy weight Moderate

    rs11200392 risk allele is associated with obesity-related traits (GWAS p=3e-6), suggesting genetic predisposition to weight gain.

    Emphasize whole foods, adequate protein, portion control

Lifestyle

  • Regular physical activity for weight management Moderate

    rs11200392 risk allele is associated with obesity-related traits (GWAS p=3e-6), suggesting genetic predisposition to weight gain.

    Aim for 150 minutes of moderate-intensity aerobic activity per week

Screening

  • Weight and BMI monitoring Moderate

    rs11200392 risk allele is associated with obesity-related traits (GWAS p=3e-6), suggesting genetic predisposition to weight gain.

    Regular monitoring (monthly or quarterly)

Frequently asked questions

What does rs11200392 do?

rs11200392 influences how much certain genes are expressed in skin tissue. It reduces expression of the TACC2 gene while increasing expression of neighboring genes NSMCE4A, ATE1, and BTBD16 in skin.

Is rs11200392 linked to any disease?

The available research focuses on gene-expression effects in skin rather than specific diseases or health outcomes. No disease association for this variant is established in the sources reviewed.

In which tissues does rs11200392 have measurable effects?

GTEx data show effects specifically in skin: both non-sun-exposed suprapubic skin and sun-exposed lower leg skin. Effects in other tissues are not documented in the available sources.

What genes does rs11200392 affect?

Four genes show expression changes in skin: TACC2 with reduced expression, and NSMCE4A, ATE1, and BTBD16 with increased expression. TACC2 and NSMCE4A effects appear in both skin subtypes, while ATE1 and BTBD16 effects are seen only in sun-exposed skin.

How strong is the evidence for rs11200392 effects?

The TACC2 eQTL effects are among the most statistically robust in GTEx v11 data from 953 donors, reaching p-values below 1e-20. The evidence is solid for gene expression changes in skin but does not currently extend to disease outcomes or clinical implications.