rs4253527
This is a variant in the SFTPA1 gene that changes a arginine to an tryptophan.
▶ClinVar annotation
Pulmonary fibrosis, idiopathic, susceptibility to; SFTPA1-related disorder; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Surfactant protein�A and B genetic variants predispose to idiopathic pulmonary fibrosisAssociationN=278Selman M. et al.(2003)· Human Genetics
This case-control study of 84 idiopathic pulmonary fibrosis (IPF) patients and 194 healthy controls identified surfactant protein genetic variants as risk factors for IPF. The SP-A1 6A4 allele and associated SNPs (AA50_C, AA62_G, AA219_T) were significantly more frequent in nonsmoker IPF patients (odds ratios 3.13-6.68, p≤0.01), while the SP-B SNP B1580_C (odds ratio 7.63, 95% CI 1.64-35.4, p≤0.01) was associated with IPF in smokers. Biochemical analysis demonstrated that amino acid differences, particularly at position 219 (Arg/Trp), affect SP-A protein aggregation properties.
About SFTPA1
This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
View all SFTPA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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