Expressive

rs112251095 (FAM171A1-ITGA8): Skin Trait Variant

Key takeaways

  • Identified in a single GWAS of 749 Korean women as one of 46 suggestive variants near FAM171A1 and ITGA8
  • The study assessed five facial skin traits: melanin, gloss, hydration, wrinkle depth, and elasticity
  • Evidence uses a suggestive p-value threshold, not full genome-wide significance - the association is not yet confirmed
  • Findings are specific to Korean women aged 30-50 with no independent replication reported
  • Machine-learning models using this and related variants reached r2 of 0.64-0.73 for skin trait prediction

Key takeaways

  • Identified in a single GWAS of 749 Korean women as one of 46 suggestive variants near the FAM171A1 and ITGA8 genes
  • The study assessed five facial skin traits: melanin, gloss, hydration, wrinkle depth, and elasticity
  • Evidence uses a suggestive p-value threshold, not full genome-wide significance - the association is not yet confirmed
  • Findings are specific to Korean women aged 30-50 with no independent replication reported
  • Machine-learning models using this and related variants reached r2 of 0.64-0.73 for skin trait prediction

What the research says

A genome-wide association study (GWAS - a method that scans hundreds of thousands of positions across the genome in many individuals to find variants statistically linked to a trait) conducted in 749 Korean women aged 30 to 50 identified rs112251095, located at the FAM171A1 - ITGA8 locus, as one of 46 novel single-nucleotide polymorphisms (SNPs - positions in the genome where a single DNA letter differs between people) associated with facial skin traits at a suggestive significance threshold of p < 1x10^-05 (Yoo HY et al., Clinical, Cosmetic and Investigational Dermatology, 2024). The five traits evaluated in that study were skin melanin content, gloss, hydration, wrinkle depth, and elasticity. Ridge regression machine-learning models trained on these GWAS-identified SNPs achieved predictive accuracy with r2 values of 0.64 to 0.73 across all five traits using five-fold cross-validation, though the specific phenotype most closely linked to this locus is not identified in the available study text.

Reported associations

  • Facial skin phenotypes (Korean women): rs112251095 was among 46 novel suggestive variants (p < 1x10^-05) in a GWAS of 749 Korean women, with phenotypes spanning melanin content, gloss, hydration, wrinkle depth, and elasticity; which specific trait this locus is attributed to is not stated in the available excerpt (Yoo HY et al., 2024).

Evidence quality

Evidence for this locus comes from a single GWAS of 749 Korean women aged 30 to 50 (Yoo HY et al., Clinical, Cosmetic and Investigational Dermatology, 2024). The significance threshold applied (p < 1x10^-05) falls well below the conventional genome-wide cutoff of p < 5x10^-8, classifying this as a suggestive rather than confirmed association. No independent replication in a separate cohort is reported. The study authors explicitly note that most prior large-scale GWAS have focused on European ancestry populations, positioning this as an exploratory effort to address a gap for Asian populations. The cohort is restricted to Korean women in a narrow age range, limiting generalizability across ancestries, sexes, and age groups. The exact facial trait linked to this variant is not specified in the available text. Taken together, the evidence is preliminary and should be interpreted with caution.

Lifestyle considerations

No lifestyle considerations on file for this variant.

Frequently asked questions

What genes are near rs112251095?

rs112251095 is located at the FAM171A1 - ITGA8 locus, a genomic region flanked by the FAM171A1 and ITGA8 genes. The variant was identified as a suggestive genetic signal in a study examining facial skin traits in Korean women.

What skin traits is rs112251095 associated with?

The study that identified this variant examined five facial skin traits: melanin content (pigmentation), gloss, hydration, wrinkle depth, and elasticity. The specific trait most closely linked to rs112251095 itself is not specified in the available study data.

Is the rs112251095 skin trait association confirmed?

No. The association was reported at a suggestive significance level (p < 1x10^-05), which is below the conventional genome-wide standard of p < 5x10^-8. It has not been replicated in an independent study, so it remains a preliminary finding.

Does rs112251095 only matter for people of Korean ancestry?

The study was conducted exclusively in Korean women aged 30 to 50. Whether the same variant influences skin traits in other ancestries, age groups, or in men is unknown based on current evidence. The study authors note this research was designed to address a gap in Asian-population genetics.

Can rs112251095 predict your skin condition?

The study used machine-learning models that combined this and dozens of other variants to achieve moderate skin trait prediction accuracy (r2 of 0.64 to 0.73 across five traits). However, this was a small, exploratory study in a specific population and the findings should not be applied as a personal diagnostic tool.