Rs1130866

rs1130866 is a SNP altering an amino acid at position 131 of the pulmonary-associated protein B surfactant SFTPB gene. On it's own, it does not affect the odds of acquiring systemic sclerosis.

However, in a study of 127 Japanese patients who already had systemic sclerosis, rs1130866(T;T) homozygotes were found to be at reduced risk for interstitial lung disease.

The genetics of chronic obstructive pulmonary disease.

Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma.

No association between coding polymorphism within Exon 4 of the human surfactant protein B gene and pulmonary function in healthy men.

Polymorphic variation in surfactant protein B is associated with COPD exacerbations.

Developmental and genetic regulation of human surfactant protein B in vivo.

Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.

Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.


 * is_associated_with_disease::Systemic scleroderma
 * is_associated_with_disease::Pulmonary alveolar proteinosis
 * is_associated_with_disease::Asthma
 * is_associated_with_disease::Interstitial lung disease
 * is_associated_with_disease::Influenza
 * is_associated_with_disease::Chronic obstructive pulmonary disease