rs1130866

This is a variant in the SFTPB gene that changes a threonine to an isoleucine.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.53
p —
N 10,708
Large GWAS
European

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele A
OR 0.69
p 3.0e-189
N 3,200
Large GWAS
European

lysosome-associated membrane glycoprotein 3 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 2.0e-15
N 47,745
Large GWAS
European

level of glycodelin in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 1.0e-12
N 47,745
Large GWAS
European

lung adenocarcinoma

Shi J et al. “Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population.” Nature Communications 14(1):3043 (2023)
Allele A
OR 1.08
p 2.0e-8
N 109,071
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
10 submitters6 publications

Hereditary pulmonary alveolar proteinosis; Surfactant metabolism dysfunction, pulmonary, 1; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Surfactant protein�A and B genetic variants predispose to idiopathic pulmonary fibrosis
AssociationN=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.

Traits studied:Idiopathic pulmonary fibrosis
PubMedDOIMetascience Observatory

About SFTPB

This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]

View all SFTPB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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