Expressive

rs10860276 (MIR4303): Facial Morphology Variant

Key takeaways

  • This variant is located near MIR4303 (a microRNA gene) and RNU4-41P (an RNA pseudogene), and was flagged in a Korean GWAS of 85 facial traits in 7,569 adults.
  • GTEx data from 953 donors links the alternate allele to reduced PAFAH1B2P2 expression in skeletal muscle (p=1.4e-28), a very strong statistical signal.
  • The facial trait association is preliminary - rs10860276 is not among the five genome-wide significant hits reported by the source study.
  • No drug-response or lifestyle data have been reported for this variant in the available sources.

Key takeaways

  • This variant sits near MIR4303 (a microRNA gene) and RNU4-41P (a small nuclear RNA pseudogene), and was studied in a Korean GWAS of 85 facial traits across 7,569 adults.
  • GTEx data from 953 donors links the alternate allele to reduced expression of PAFAH1B2P2 in skeletal muscle, a highly statistically significant eQTL signal (p=1.4e-28).
  • The facial trait association is preliminary - rs10860276 is not among the five genome-wide significant loci reported in the source study.
  • No lifestyle or drug-response data have been reported for this variant in the provided sources.

What the research says A two-stage genome-wide association study (GWAS) of 85 facial morphological traits in 7,569 Korean adults (5,643 in a discovery set and 1,926 in a replication set) investigated genetic contributions to craniofacial form; prior twin studies cited within that work estimated facial morphology heritability at 0.41 to 0.86. The study identified five genome-wide significant loci related to facial frontal contour, eye shape, and nose shape, with rs10860276 falling in the MIR4303 - RNU4-41P region, where MIR4303 encodes a microRNA molecule and RNU4-41P is a small nuclear RNA pseudogene (a DNA sequence that resembles a functional gene but is not expressed as a working RNA). Separately, GTEx v11 data from 953 donors shows the alternate allele at this locus is associated with reduced PAFAH1B2P2 (platelet-activating factor acetylhydrolase 1b regulatory subunit 2 pseudogene 2) expression in skeletal muscle, with an effect size of -0.42 log2 units (p=1.4e-28) GTEx Portal.

Reported associations

  • Facial morphology (general): rs10860276 appeared in a Korean GWAS of 85 facial traits in 7,569 adults; its specific trait association is not detailed in the available study text, and it is not among the five genome-wide significant loci reported.
  • Skeletal muscle gene expression - PAFAH1B2P2: The alternate allele is associated with reduced PAFAH1B2P2 expression in skeletal muscle (slope -0.42 log2 units, p=1.4e-28, n=953 donors) GTEx Portal.

Evidence quality The facial morphology GWAS had 7,569 Korean participants across two stages, a moderate sample size for a GWAS. The study advanced 128 SNPs with a discovery p-value below 5x10^-6 into replication, but rs10860276 is not named among the five loci that reached genome-wide significance (p < 5x10^-8), so its facial trait association, if any, is at best sub-threshold or reported in supplementary material not available in the provided excerpt. The facial evidence is preliminary and limited to an East Asian population; replication in other ancestries has not been reported in the provided sources. The GTEx eQTL signal for PAFAH1B2P2 in skeletal muscle is statistically robust (p=1.4e-28 across 953 donors in GTEx v11), though eQTL data describes tissue-level gene expression effects and does not directly establish clinical or phenotypic consequences GTEx Portal.

Tissue-specific expression effects

  • PAFAH1B2P2: The alternate allele is associated with reduced expression in skeletal muscle; this is a strong cis-eQTL signal (effect: -0.42 log2 units, p=1.4e-28) from GTEx v11 data across 953 donors GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10860276?

rs10860276 is a single nucleotide polymorphism (a one-letter DNA change) located near the MIR4303 microRNA gene and the RNU4-41P RNA pseudogene. It has been studied in the context of facial morphology genetics and shows a strong effect on a gene's expression in skeletal muscle tissue according to GTEx data.

What is the MIR4303 gene?

MIR4303 is a microRNA gene. MicroRNAs are short, non-coding RNA molecules that help regulate which genes are switched on or off in cells, rather than coding directly for proteins.

Is rs10860276 linked to facial features?

It appeared in a Korean genome-wide association study of 85 facial traits involving 7,569 people, but it is not among the five variants that reached genome-wide significance in that study. Any facial trait association for this specific variant should be considered preliminary.

What does GTEx data show for rs10860276?

GTEx v11 data from 953 donors shows the alternate allele at rs10860276 is associated with reduced expression of PAFAH1B2P2 in skeletal muscle. This is a statistically strong signal but describes gene expression changes, not a direct health or disease outcome.

What does RNU4-41P mean?

RNU4-41P stands for RNA, U4 small nuclear 41, pseudogene. Pseudogenes are DNA sequences that resemble functional genes but are generally not expressed as working RNAs or proteins.