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GENETIC POLYMORPHISM IN HUMAN β-DEFENSIN-1 AND CHRONIC OBSTRUCTIVE PULMONARY DISEASE IN HAN POPULATION IN SOUTH OF CHINA
Authors:ZHOU Min  HUANG Shao-guang  WAN Huan-ying  LI Min  RONG Xia-jun  LI Biao
Affiliation:ZHOU Min(Department of Pulmonary Medicine, RuiJin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China);HUANG Shao-guang(Department of Pulmonary Medicine, RuiJin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China);WAN Huan-ying(Department of Pulmonary Medicine, RuiJin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China);LI Min(Department of Pulmonary Medicine, RuiJin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China);RONG Xia-jun(Department of Pulmonary Medicine, RuiJin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China);LI Biao(Department of Nuclear Medicine, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China);
Abstract:Objective To investigate the correlation between human β-defensin-1 ( HBD-1) exon 2 variations and chronic obstructive pulmonary disease susceptibility in Han population in south of China. Methods The frequency of polymorphic genotypes of HBD-1 exon 2 (1654G/A) was examined in 120 COPD patients ( COPD group) and 108 smokers without COPD ( control group) by restriction fragment length polymorphism. Results The frequencies of polymorphic genotypes in HBD-1 exon 2 in COPD group were G/G 82.50%, G/A 10. 83%, and A/A 6. 67%. The frequencies of polymorphic genotypes in control group were G/G 95.37%, G/A 3. 70%, and A/A 0. 93 %. It showed significant difference between two groups ( P < 0. 01 ). The differences in allele frequencies were also significant between two groups ( G allele frequency: 87. 92% vs 97. 22%; A allele frequency: 12. 08% vs 2.78%; P < 0. 01 ). The G→A mutation rised along with the severity of the COPD. Conclusion The genetic polymorphism in HBD-1 exon 2 gene might be associated with the susceptibility to COPD in Han population of South China.
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