Expressive

rs11636972 (THSD4): Vaginal Bacteriome GWAS

Key takeaways

  • rs11636972 was identified in a GWAS connecting host genetics to vaginal bacterial communities in pregnant women.
  • The study found 72 genetic variant associations with vaginal bacterial traits at genome-wide significance.
  • Most significant variants had a low minor allele frequency, meaning they are relatively uncommon in the population.
  • Evidence comes from a single study of 359 pregnant Chinese women and needs independent replication.

Key takeaways

  • rs11636972 was identified in a genome-wide association study (GWAS) connecting host genetics to vaginal bacterial communities in pregnant women.
  • The study found 72 genetic variant associations with vaginal bacterial traits at genome-wide significance.
  • Most significant variants had a low minor allele frequency, meaning the variant is relatively uncommon in the population.
  • Evidence comes from a single study of 359 pregnant Chinese women and has not been independently replicated.

What the research says A 2021 GWAS of 359 pregnant Chinese women examined associations between host genetic variants and multiple vaginal bacterial traits (VBTs) - measures of bacterial community composition and diversity within the vagina. The study identified 72 variant-VBT associations at genome-wide significance (P < 5 x 10^-8), with rs11636972 at the THSD4 (Thrombospondin Type 1 Domain Containing 4) locus among those identified. The majority of significant variants carried a low minor allele frequency (MAF, the fraction of people in the population carrying the less common form of the variant), with only 7 of the 72 associations having a MAF above 0.05.

Reported associations

  • Vaginal bacterial traits (VBTs): rs11636972 at the THSD4 locus was identified among 72 host genetic variants associated with vaginal bacteriome characteristics in pregnant women at genome-wide significance (P < 5 x 10^-8); specific bacterial taxa or community diversity metrics associated with this individual variant were not detailed in the available study excerpt.

Evidence quality The sole available evidence comes from a 2021 GWAS (Fan W et al., mSystems) in 359 pregnant Chinese women. The 72 reported associations, including the one at rs11636972, met the conventional genome-wide significance threshold (P < 5 x 10^-8), and the genomic inflation factor - a measure of whether association signals are inflated by population stratification or other statistical artifacts - was kept below 1.1, suggesting the reported findings are not severely inflated. However, the sample size is small for a GWAS, no PMID was provided for this study, and no independent replication of this specific variant has been documented in the provided materials. Specific effect sizes such as odds ratios or percentage of variance explained for rs11636972 were not available in the provided study excerpt. These findings should be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is the THSD4 gene?

THSD4 stands for Thrombospondin Type 1 Domain Containing 4. A variant near this gene, rs11636972, was studied in connection with vaginal bacterial community composition during pregnancy in a 2021 GWAS.

What is rs11636972 associated with?

rs11636972 is a genetic variant at the THSD4 locus identified in a 2021 genome-wide association study examining how host genetic variants may influence the vaginal bacteriome in pregnant women. The study found 72 such associations at genome-wide significance level.

Is rs11636972 linked to pregnancy outcomes?

The study examined vaginal bacterial community composition rather than pregnancy outcomes directly. While vaginal bacteria play a role in pregnancy health generally, the study focused on genetic associations with bacterial traits, not clinical endpoints.

How reliable is the evidence for rs11636972?

Evidence comes from a single GWAS of 359 pregnant Chinese women. While the study used standard genome-wide significance thresholds, the sample size is small for a GWAS and independent replication has not been documented. The findings should be treated as preliminary.