연구배경: 만성폐쇄성폐질환의 대부분은 흡연과 연관되어 발생하지만 흡연자의 약 10∼20%에서만 만성폐쇄성폐질환이 발생하는 현상은 질환의 발생에 개체의 유전적인 소인이 관여함을 시사한다. 저자들은 α1-antitrypsin 단백질을 암호화하는 SERPINA1 유전자의 다형성에 따른 만성폐쇄성폐질환의 위험도를 조사하였다. 방 법: 경북대학교병원 호흡기내과에서 만성폐쇄성폐질환으로 진단 받은 93명의 환자와 112명의 정상인을 대상 으로 하였다. SERPINA1 유전자의 M1Val, M1Ala, M2, S와 Z 대립유전자(allele)는 중합효소연쇄반응과 restriction fragment length polymorphism을 이용하여 조사하였다. 결 과: 환자군과 대조군 모두에서 S 및 Z allele은 없었으며, M1Val allele의 빈도는 환자군에서 유의하게 낮았다(73.6% vs. 82.7%, p=0.03). M1Val/M1Val 유전자형인 경우에 비해 M2 혹은 M1Ala allele을 갖는 유전자형인 경우 만성폐쇄성폐질환의 대응비는 1.86 (95% CI: 1.02∼3.41, p=0.04)으로 유의하게 높았다. M2 allele 갖는 유전자형인 경우 대응비는 1.77 (95% CI: 0.96∼3.27, p=0.07)이었으며, 연령에 따라 구분한 경우 64세 미만에서는 M2 allele을 갖는 경우 대응비가 3.09 (95% CI: 1.16∼8.21, p=0.02)로 유의하게 높았다. 결 론: SERPINA1 유전자의 유전자형은 만성폐쇄성폐질환의 위험도를 결정하는 인자로 생각되나, 보다 많은 예를 대상으로 한 연구가 필요할 것으로 생각된다
Background: We conducted a case-control study to evaluate the potential association between SERPINA1 genotypes (M1Val, M1Ala, S, and Z) and the risk COPD.Methods: The study population consisted of 93 patients with COPD and 112 healthy controls. The polymerase chain reaction and restriction fragment length polymorphism for detecting the SERPINA1 variants.Results: The M2 allele of the SERPINA1 gene was significantly associated with the risk of COPD in Koreans. The effect of the M2 allele on the risk of COPD was more pronounced in the subgroup<64 years. Conclusion: These results suggest that SERPINA1 polymorphisms may contribute to a genetic predisposition for COPD. However, additional studies with larger sample sizes are required to confirm our findings.
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