rs11849937 - NRXN3: Schizoaffective link and testis expression

Key takeaways

• rs11849937 is linked to Schizoaffective disorder-bipolar type with a reported effect size of 1.8 and p-value 8e-7 based on a GWAS of about 32 thousand individuals.
• The variant reduces expression of NRXN3 in the testis according to GTEx data.
• This association is specific to the T allele and not observed for the C allele.

What the research says The GWAS Catalog reports that rs11849937 is associated with Schizoaffective disorder-bipolar type, with the T allele having a reported effect size of 1.8 and p-value 8e-7 in about 32 thousand individuals [PMID 31043756]. GTEx data show that this variant reduces expression of NRXN3 in the testis, with a slope of -0.35 and high significance GTEx Portal.

Reported associations

• Schizoaffective disorder-bipolar type: the T allele is associated with a higher risk, reported effect size 1.8 p=8e-7 in about 32 thousand individuals [PMID 31043756].

Evidence quality The GWAS used about 32 thousand participants [PMID 31043756] and the association is specific to the T allele not observed for the C allele. GTEx data indicate reduced expression in testis with slope -0.35 p=5.1e-5 GTEx Portal.

Tissue-specific expression effects

• NRXN3: reduced expression in the testis GTEx Portal.

No lifestyle considerations on file for this variant.