Prevalence of alpha1-Antitrypsin Genotypes in Koreans.

Park, Jae Yong; Choi, Jin Eun; Cha, Seung Ick; Bae, Nack Cheon; Chae, Po Hee; Lee, Jae Yook; Kang, Young Mo; Kim, Chang Ho; Jung, Tae Hoon

doi:2001.50.2.229

Tuberc Respir Dis > Volume 50(2); 2001 > Article

Original Article

Tuberculosis and Respiratory Diseases 2001;50(2):229-235.
DOI: https://doi.org/10.4046/trd.2001.50.2.229 Published online February 1, 2001.

Prevalence of alpha1-Antitrypsin Genotypes in Koreans.

Jae Yong Park, Jin Eun Choi, Seung Ick Cha, Nack Cheon Bae, Po Hee Chae, Jae Yook Lee, Young Mo Kang, Chang Ho Kim, Tae Hoon Jung

Abstract

BACKGROUND
Alpha-1-antitrypsin (A1AT) deficiency is the only established genetic resk factor for emphysema. This study was undertaken to investigate the prevalence of the genotypes of A1AT genotypes in healthy Koreans. METHOD: The study population consisted of 380 healthy Koreans enrolled at the Health Promotion Center in Kyungpook National University Hospital. The polymerase chain reaction (PCR) and restriction fragment length polymorphim (RFLP) for detecting the A1AT variants M1(Ala), M1(Val), M2, S and Z were used. RESULTS: The genotypes of subjects were as follows : M1(Val)/M1(Val), 254(66.8%) ; M1(Val)/M2, 105(27.6%) ; M2/M2, 19 (5.0%) ; and M1(Val)/M1(Ala), 2 (0.5%). There was no case with 'deficiency' alleles such as S and Z found in this study. CONCLUSION: These results suggest that A1AT deficient alleles are either extremely rare or not present in Koreans.

Key Words: α1-antitrypsin, Genotypes, Korean