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Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD.

Abstract

A number of genome-wide linkage analyses have identified the 2q33.3-2q37.2 region as the most likely to contain the genes that contribute to the susceptibility to chronic obstructive pulmonary disease (COPD). It was hypothesised that the type IV collagen alpha3 (COL4A3) gene, which is one of the genes located in the 2q33.3-2q37.2 region, may act as a low-penetrance susceptibility gene for COPD. To test this hypothesis, the association of COL4A3 -1162T>C, IVS2+12C>A, P141L, G162E, H451R, P574L and *315C>A polymorphisms with the risk of COPD was investigated in a case-control study of 311 COPD patients and 386 controls. The presence of at least one 451R allele was associated with a significantly higher risk of COPD compared with the 451 H/H genotype (adjusted odds ratio 1.48, 95% confidence interval (1.03-2.14)). When the subjects were stratified according to age and COPD severity, the 451R allele was associated with a significantly higher risk of COPD only in younger individuals with severe COPD (3.02 (1.37-6.67)). In conclusion, these findings suggest that the type IV collagen alpha3 gene contributes to the genetic susceptibility to chronic obstructive pulmonary disease.

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  • Authors+Show Affiliations

    ,

    Dept of Biochemistry, Kyungpook National University Hospital, Samduk 2a 50, Daegu, 700-412, Republic of Korea.

    , , , , , , , ,

    Source

    The European respiratory journal 32:1 2008 Jul pg 35-41

    MeSH

    Aged
    Autoantigens
    Case-Control Studies
    Collagen Type IV
    Genetic Predisposition to Disease
    Genotype
    Humans
    Male
    Middle Aged
    Polymorphism, Single Nucleotide
    Pulmonary Disease, Chronic Obstructive
    Smoking

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    18385178

    Citation

    Kim, K M., et al. "Polymorphisms in the Type IV Collagen Alpha3 Gene and the Risk of COPD." The European Respiratory Journal, vol. 32, no. 1, 2008, pp. 35-41.
    Kim KM, Park SH, Kim JS, et al. Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD. Eur Respir J. 2008;32(1):35-41.
    Kim, K. M., Park, S. H., Kim, J. S., Lee, W. K., Cha, S. I., Kim, C. H., ... Park, J. Y. (2008). Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD. The European Respiratory Journal, 32(1), pp. 35-41. doi:10.1183/09031936.00076207.
    Kim KM, et al. Polymorphisms in the Type IV Collagen Alpha3 Gene and the Risk of COPD. Eur Respir J. 2008;32(1):35-41. PubMed PMID: 18385178.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD. AU - Kim,K M, AU - Park,S H, AU - Kim,J S, AU - Lee,W K, AU - Cha,S I, AU - Kim,C H, AU - Kang,Y M, AU - Jung,T H, AU - Kim,I S, AU - Park,J Y, Y1 - 2008/04/02/ PY - 2008/4/4/pubmed PY - 2008/10/2/medline PY - 2008/4/4/entrez SP - 35 EP - 41 JF - The European respiratory journal JO - Eur. Respir. J. VL - 32 IS - 1 N2 - A number of genome-wide linkage analyses have identified the 2q33.3-2q37.2 region as the most likely to contain the genes that contribute to the susceptibility to chronic obstructive pulmonary disease (COPD). It was hypothesised that the type IV collagen alpha3 (COL4A3) gene, which is one of the genes located in the 2q33.3-2q37.2 region, may act as a low-penetrance susceptibility gene for COPD. To test this hypothesis, the association of COL4A3 -1162T>C, IVS2+12C>A, P141L, G162E, H451R, P574L and *315C>A polymorphisms with the risk of COPD was investigated in a case-control study of 311 COPD patients and 386 controls. The presence of at least one 451R allele was associated with a significantly higher risk of COPD compared with the 451 H/H genotype (adjusted odds ratio 1.48, 95% confidence interval (1.03-2.14)). When the subjects were stratified according to age and COPD severity, the 451R allele was associated with a significantly higher risk of COPD only in younger individuals with severe COPD (3.02 (1.37-6.67)). In conclusion, these findings suggest that the type IV collagen alpha3 gene contributes to the genetic susceptibility to chronic obstructive pulmonary disease. SN - 1399-3003 UR - https://www.unboundmedicine.com/medline/citation/18385178/abstract/Polymorphisms_in_the_Type_IV_Collagen_Alpha3_Gene_and_the_Risk_of_COPD_ L2 - http://erj.ersjournals.com/cgi/pmidlookup?view=long&pmid=18385178 DB - PRIME DP - Unbound Medicine ER -