Condition: Pulmonary Emphysema
rs10844154 in
BICD1 gene and
Pulmonary Emphysema
PMID 20709820 2011 Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
rs10411619 in
LOC105372279 gene and
Pulmonary Emphysema
PMID 24383474 2014 Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.
rs10947233 in
PPT2-EGFL8;PPT2 gene and
Pulmonary Emphysema
PMID 24383474 2014 Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.
rs11558261 in
SERPINA1 gene and
Pulmonary Emphysema
PMID 2227940 1990 Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
PMID 2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.
PMID 2989709 1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.
PMID 1967187 1990 Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.
PMID 3262617 1988 "Characterization of the gene and protein of the alpha 1-antitrypsin ""deficiency"" allele Mprocida."
PMID 2606478 1989 Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).
PMID 2254451 1990 A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.
PMID 8358043 1993 PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan.
PMID 2786335 1989 In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.
rs7957346 in
SNRPF;CCDC38 gene and
Pulmonary Emphysema
PMID 24383474 2014 Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.