Polymorphisms in the Type IV Collagen Alpha3 Gene and the Risk of COPD

¹ Dept of Biochemistry, Kyungpook National University School of Medicine, Daegu, Korea
² Dept of Preventive Medicine, Kyungpook National University School of Medicine, Daegu, Korea
³ Dept of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea
⁴ Dept of Biochemistry, Kyungpook National University School of Medicine, Daegu, Korea; and Dept of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea

^* To whom correspondence should be addressed. E-mail: jaeyong{at}knu.ac.kr.

	Abstract

A number of genome-wide linkage analyses have identified the 2q33.3–2q37.2 region as most likely to contain the genes that contribute to the susceptibility to chronic obstructive pulmonary disease (COPD). It was hypothesized that the type IV collagen alpha3 (COL4A3) gene, which is one of the genes located at 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 (OR)=1.48, 95% confidence interval (CI)=1.03–2.14, P=0.03]. 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 (adjusted OR=3.02, 95% CI=1.37–6.67, P=0.006).

In conclusion, these findings suggest that the COL4A3 gene contributes to the genetic susceptibility to COPD.