RGD Reference Report - Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. - Rat Genome Database

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

Authors: Selman, M  Lin, HM  Montano, M  Jenkins, AL  Estrada, A  Lin, Z  Wang, G  DiAngelo, SL  Guo, X  Umstead, TM  Lang, CM  Pardo, A  Phelps, DS  Floros, J 
Citation: Selman M, etal., Hum Genet. 2003 Nov;113(6):542-50. Epub 2003 Sep 6.
RGD ID: 4143409
Pubmed: PMID:13680361   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-003-1015-4   (Journal Full-text)

Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic variants of surfactant proteins, SP-A1, SP-A2, SP-B, SP-C, and SP-D. One SP-A1 (6A(4)) allele and single nucleotide polymorphisms (SNPs) that characterize the 6A(4) allele, and one SP-B (B1580_C) were found with higher frequency ( P

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pulmonary fibrosis susceptibilityIAGP 4143409DNA:missense mutations more ...RGD 
pulmonary fibrosis susceptibilityIAGP 4143409DNA:polymorphism (human)RGD 
pulmonary fibrosis susceptibilityISOSFTPA1 (Homo sapiens)4143409; 4143409DNA:missense mutations more ...RGD 
pulmonary fibrosis susceptibilityISOSFTPB (Homo sapiens)4143409; 4143409DNA:polymorphism (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sftpa1  (surfactant protein A1)
Sftpb  (surfactant protein B)

Genes (Mus musculus)
Sftpa1  (surfactant associated protein A1)
Sftpb  (surfactant associated protein B)

Genes (Homo sapiens)
SFTPA1  (surfactant protein A1)
SFTPB  (surfactant protein B)


Additional Information