Expressive

rs117929211 (SNRPEP5/ID2-AS1): Facial Skin Traits

Key takeaways

  • This variant was found in a 2024 genetic study of Korean women and may be linked to facial skin traits.
  • The study measured five traits: skin pigmentation, gloss, hydration, wrinkles, and elasticity in 749 participants.
  • Evidence comes from a single small study, so findings are preliminary and not yet independently replicated.
  • Machine-learning models using this and related gene variants predicted skin trait scores with moderate accuracy.
  • The statistical threshold used was less stringent than standard genome-wide significance, so some associations may be chance findings.

Key takeaways

  • This variant was found in a 2024 genetic study of Korean women and may be linked to facial skin traits.
  • The study measured five traits: skin pigmentation, gloss, hydration, wrinkles, and elasticity in 749 participants.
  • Evidence comes from a single small study, so findings are preliminary and not yet independently replicated.
  • Machine-learning models using this and related gene variants predicted skin trait scores with moderate accuracy.
  • The statistical threshold used was less stringent than standard genome-wide significance, so some associations may be chance findings.

What the research says A 2024 genome-wide association study (GWAS) of 749 Korean women aged 30 to 50 identified 46 novel SNPs associated with five facial skin phenotypes at a significance threshold of p < 1x10-05; rs117929211, located in the region of the SNRPEP5 pseudogene and the ID2-AS1 antisense RNA gene (a non-coding RNA gene transcribed in the opposite direction from a nearby protein-coding gene), was among the variants identified. The study applied genotype imputation (a method for inferring missing genetic data using known patterns of nearby variants) and three supervised machine-learning regression models to test whether SNPs could predict individual skin trait scores, with a ridge regression model achieving the highest cross-validated accuracy (r2 = 0.6422 to 0.7266 across the five traits for the combined SNP panel, n = 749).

Reported associations

  • Facial skin phenotypes (Korean women): rs117929211 was identified as one of 46 novel variants associated with one or more of five measured facial traits (melanin, gloss, hydration, wrinkles, or elasticity) at p < 1x10-05 in a GWAS of 749 Korean women aged 30 to 50; the provided study excerpt does not specify which individual phenotype this variant is primarily associated with.

Evidence quality This association derives from a single 2024 study of 749 Korean women, a sample size considerably smaller than large-scale GWAS that typically enroll tens of thousands of participants. The significance threshold applied (p < 1x10-05) is less stringent than the conventional genome-wide cutoff of p < 5x10-08, raising the probability that some of the 46 reported associations are false positives due to chance. No independent replication cohort is described, and the study population is exclusively Korean women aged 30 to 50, limiting generalizability to other ancestries, sexes, or age groups. The prediction accuracy figures (r2 = 0.6422 to 0.7266) reflect the combined performance of the full SNP panel in a cross-validated model, not the independent contribution of this single variant. Overall, evidence for this variant should be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117929211 associated with?

rs117929211 was identified in a 2024 genome-wide genetic study of Korean women as one of 46 novel variants associated with facial skin traits, including pigmentation, gloss, hydration, wrinkles, and elasticity. The specific trait this variant is most strongly linked to has not been detailed in the available research.

What do the SNRPEP5 and ID2-AS1 genes do?

SNRPEP5 is a pseudogene (a non-functional copy of a gene) and ID2-AS1 is an antisense RNA gene (a gene that produces RNA in the opposite direction from a neighboring gene); both are located in the genomic region near rs117929211. The 2024 study that identified this variant did not elaborate on their specific biological functions in relation to skin traits.

Is rs117929211 linked to skin aging?

A 2024 study found this variant among a set of SNPs associated with facial skin traits, including traits that change with aging such as elasticity and wrinkles, in Korean women. The evidence is preliminary, based on a single study of 749 participants, and has not been replicated in other populations.

Was rs117929211 studied in people other than Korean women?

No. The only available study focused exclusively on 749 Korean women aged 30 to 50. It has not been examined in other ancestry groups or in men based on the available research.

How reliable is the evidence for this variant?

Evidence comes from a single study of 749 Korean women, a modest sample size for genetic research. The statistical threshold used was less strict than the standard genome-wide cutoff, and no independent replication has been reported, so results should be considered preliminary.