rs1034133 (RNU2-61P/PNRC1-DT): Vaginal Microbiome

Key takeaways

• rs1034133 is among 72 genetic variants linked to vaginal bacterial community composition in a genome-wide association study (GWAS) of pregnant women.
• The variant is located in the region of the RNU2-61P and PNRC1-DT loci.
• GTEx data show the alternate allele is associated with increased expression of the nearby gene RN7SL336P in whole blood tissue.
• Evidence is preliminary, drawn from a single modest-sized cohort with no independent replication documented for this specific variant.

What the research says A GWAS of vaginal bacterial traits in 359 pregnant Chinese women found 72 genetic variant-vaginal bacterial trait (VBT) associations reaching genome-wide significance (P less than 5 x 10-8), and rs1034133, in the region of the RNU2-61P and PNRC1-DT loci, was among those identified; the study also noted that most significant variants had a minor allele frequency (MAF, the share of people carrying the less-common form) below 0.05. In a separate line of evidence, GTEx v11 eQTL data - where an eQTL, or expression quantitative trait locus, measures a variant's effect on nearby gene activity - link the alternate allele to increased expression of RN7SL336P in whole blood tissue (slope +0.29, p=6.7e-5) across 953 donors GTEx Portal.

Reported associations

• Vaginal bacterial traits in pregnancy: rs1034133 reached genome-wide significance (P less than 5 x 10-8) in a GWAS of vaginal bacterial community composition in 359 pregnant Chinese women; the specific bacterial taxon or diversity measure associated with this locus is not detailed in the available study excerpt.
• RN7SL336P gene expression in whole blood: the alternate allele is associated with increased expression of RN7SL336P in whole blood tissue in GTEx v11 eQTL data (n=953 donors) GTEx Portal.

Evidence quality The vaginal bacteriome association derives from a single GWAS in 359 pregnant Chinese women. The study reported an acceptable genomic inflation factor (lambda less than 1.1), which suggests results are unlikely to be heavily inflated by population stratification artefacts. Of the 72 genome-wide significant variant-VBT associations found, most variants had a MAF below 0.05; whether rs1034133 falls into that majority is not stated in the available text. No independent replication cohort is described for this locus specifically, and the particular bacterial taxon or community metric linked to it is not named in the provided excerpt. The GTEx eQTL signal for RN7SL336P in whole blood meets an FDR threshold of less than 0.05, but no provided source connects this expression change to any clinical or phenotypic outcome. Overall, evidence for this variant is preliminary and limited to a single study for the VBT association.

Tissue-specific expression effects

• RN7SL336P: the alternate allele is linked to increased expression in whole blood; no other tissues with significant eQTL effects are present in the provided GTEx data for this variant GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.