Expressive

rs118039352 (IGLVIV-65): Antibody Gene Region Variant

Key takeaways

  • rs118039352 is located in the immunoglobulin lambda variable gene region, part of the antibody-coding machinery
  • The alternate allele increases ABHD17AP5 expression in both spleen and lung tissue
  • A large multi-ancestry pregnancy outcomes study covered this genomic region, but specific effect sizes for this SNP are not reported in available data
  • Direct clinical associations for this variant remain unconfirmed in the provided sources

Key takeaways

  • rs118039352 sits in the immunoglobulin lambda variable gene region (IGLVIV-65 - IGLVIV-64), part of the antibody-coding machinery
  • The alternate allele is linked to increased ABHD17AP5 expression in both spleen and lung tissue
  • A multi-ancestry genome-wide association study of adverse pregnancy outcomes covered this genomic region, but the available study text does not report specific effect sizes for this SNP
  • Direct clinical associations for this variant remain unconfirmed in the provided sources

What the research says

GTEx v11 eQTL data (953 donors, FDR < 0.05) shows that the alternate allele at this locus is associated with increased expression of ABHD17AP5 (a pseudogene related to ABHD17A) in spleen (slope +1.31, p = 5.1×10^-7) and lung (slope +0.77, p = 1.0×10^-5) tissue GTEx Portal. A 2024 multi-ancestry genome-wide association study (GWAS) of adverse pregnancy outcomes in the nuMoM2b cohort - enrolling over 10,000 nulliparous individuals across European, African, and Admixed American sub-cohorts and examining pregnancy loss, gestational length, gestational diabetes, and preeclampsia - covered this genomic region; however, the provided study text does not yield extractable association statistics specific to rs118039352.

Reported associations

  • ABHD17AP5 expression - spleen: The alternate allele associates with increased ABHD17AP5 expression in spleen tissue (slope +1.31, p = 5.1×10^-7) GTEx Portal
  • ABHD17AP5 expression - lung: The alternate allele associates with increased ABHD17AP5 expression in lung tissue (slope +0.77, p = 1.0×10^-5) GTEx Portal

Evidence quality

The tissue-expression data derives from GTEx v11 (953 donors), a well-powered reference dataset using FDR-controlled cis-eQTL (cis - meaning the variant acts on a nearby gene, within a defined genomic window) analysis; both spleen and lung associations meet the FDR < 0.05 threshold and reach p < 1×10^-5. The adverse pregnancy outcomes GWAS is a rigorously designed, prospective multi-ancestry study with sub-cohort sizes of approximately 5,891 European, 1,374 African, and 811 Admixed American participants after quality control, but the provided excerpt yields no extractable effect estimate, p-value, or replication status for rs118039352 specifically. No clinical outcome associations for this variant are directly supported by the evidence available from these sources; only tissue-level gene-expression associations are confirmed.

Tissue-specific expression effects

  • ABHD17AP5: The alternate allele is associated with increased expression in spleen and lung tissue; the effect is notably stronger in spleen (slope +1.31) than in lung (slope +0.77) GTEx Portal

Lifestyle considerations

No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs118039352?

rs118039352 is a genetic variant located in the IGLVIV-65 - IGLVIV-64 region, part of the immunoglobulin lambda variable gene cluster that encodes components used in producing antibodies.

What gene does rs118039352 affect?

GTEx v11 data links rs118039352 to increased expression of ABHD17AP5, a pseudogene related to ABHD17A, in spleen and lung tissue.

Is rs118039352 linked to pregnancy complications?

A 2024 multi-ancestry genome-wide study of adverse pregnancy outcomes covered this genomic region, but the available data does not report a confirmed, specific association for rs118039352 among its findings.

What does the IGLVIV-65 - IGLVIV-64 region do?

This region is part of the immunoglobulin lambda variable gene cluster, which encodes variable segments of immunoglobulin light chains - proteins that form part of the structure of antibodies in the immune system.

What is an eQTL and why does it matter for rs118039352?

An eQTL (expression quantitative trait locus) is a genetic variant associated with changes in how much a nearby gene is expressed. For rs118039352, GTEx data shows the alternate allele is linked to higher ABHD17AP5 expression in spleen and lung, which may point to a functional mechanism, though this does not by itself confirm a disease link.