rs7175922
This is a upstream gene variant variant in the GLDN gene.
▶Research that mentions this SNP (1)
▶Estrogen Signaling and Portopulmonary Hypertension: The Pulmonary Vascular Complications of Liver Disease Study (PVCLD2)AssociationN=327Nadine Al‐Naamani et al.(2021)· Hepatology
A multicenter case-control study of 37 portopulmonary hypertension (POPH) patients and 290 liver disease controls found that the risk allele rs7175922 in the aromatase gene (CYP19A1) was significantly associated with increased POPH risk (OR 2.36, 95% CI 1.12-4.91, p = 0.02) and higher circulating estradiol levels. Other genetic variants in ESR1 and CYP1B1 were not significantly associated with POPH, but altered estrogen metabolism markers including higher plasma 16α-hydroxyestradiol and lower dehydroepiandrosterone-sulfate were associated with disease.
About GLDN
This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]
View all GLDN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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