rs3731661
This variant is located in the WDR35 gene.
▶ClinVar annotation
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Association study of genetic variants at TTC32‐WDR35 gene cluster with coronary artery disease in Chinese Han populationAssociationN=1,870Ying Xu et al.(2021)· Journal of Clinical Laboratory Analysis
A case-control study in 935 Chinese Han CAD patients and 935 matched controls found that rs721932 CG genotype was associated with reduced CAD risk (OR=0.68, 95% CI: 0.54-0.86, P=0.001), while rs12617744 AA genotype was associated with CAD risk in males (OR=0.62, 95% CI: 0.42-0.93, P=0.02). Both SNPs were associated with HDL levels and disease severity markers including vascular lesion numbers and CAD progression.
About WDR35
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
View all WDR35 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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