rs372075
This variant is located in the CFHR1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palateAssociationN=550Beaty TH et al.(2011)· Genetic Epidemiology
GWAS of 550 case-parent trios with non-syndromic cleft palate identified genome-wide significant gene-environment interactions with maternal exposures. MLLT3 and SMC2 on chromosome 9 showed multiple SNPs associated with increased CP risk when mothers consumed alcohol periconceptually (MLLT3 rs4621895 p=1.9×10⁻⁷, SMC2 rs1536895 p=1.53×10⁻⁸). TBK1 and ZNF236 showed interaction with maternal smoking (TBK1 rs7969932 p=7.86×10⁻⁸, ZNF236 rs372075 p=6.75×10⁻⁸), while BAALC SNPs showed protective effects with multivitamin supplementation.
About CFHR1
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
View all CFHR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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