内蒙古地区蒙古族β2肾上腺素能受体基因多态性与慢性阻塞性肺疾病的相关性

Association of β2-adrenergic receptor gene polymorphism with chronic obstructive pulmonary disease in Mongolian population in Inner Mongolia

目的 探讨β2-肾上腺素能受体 （β2-AR）基因单核苷酸多态性位点精氨酸 （Arg16）Gly和谷氨酰胺 （Gln27）Glu多态性在内蒙古地区蒙古族人群慢性阻塞性肺疾病 （COPD）发病中的作用。方法 在内蒙古地区采集337例蒙古族COPD患者及353例蒙古族健康对照者,应用2×48-PlexSNPscan^TM Kit技术检测了β2-AR 基因 Arg16Gly和 Gln27Glu多态性。结果 Arg16Gly和Gln27Glu多态性在内蒙古地区蒙古族人群中分布均符合 Hardy-Weinberg平衡 （P〈0.05）;Arg16GlyGG、AA、AG基因型频率在COPD组和健康对照组间差异有统计学意义 （χ2=23 470,P 〈0.05）,2组间Arg16Gly位点的G等位基因频率分别为43 0%、50.8%,差异有统计学意义 （χ2=8.471,P 〈0.05）;而Gln27GluGG、CC、CG基因型频率在2组间差异无统计学意义 （χ2=4 694,P〈0.05）,2组间Gln27Glu位点的G等位基因频率分别为13 9%、17.0%,差异无统计学意义 （χ2=2.449,P 〉0.05）。结论 β2-AR基因Arg16Gly多态位点可能是内蒙古地区蒙古族人群COPD的遗传易感指标,而Gln27Glu位点可能与蒙古族人群COPD的发病不相关。

Objective To explore the role of Arg16Gly and Gln27Glu polymorphism located in the β2 adrenergic receptor （β2-AR） gene in the pathogenesis of chronic obstructive pulmonary disease （COPD） in Mongolian population in Inner Mongolia. Methods Three hundred and thirty-seven cases of Mongolian COPD and 353 Mongolian healthy controls were collected in Inner Mongolia region, and 2 × 48- Plex SNPscanTM Kit was used to detect the polymorphism of Arg16Gly and Gln27Glu. Results The distribution of Argl6Gly and Gln27Glu polymorphism in Mongolian population in Inner Mongolia was consistent with Hardy Weinberg equilibrium （ P 〉0.05）. There was statistical difference in the genotype frequency of GG, AA and AG of Argl6Gly （χ2=23.470, P 〈0.05）, rather than GG, CC and GC of Gln27Glu （ χ2=4.694, P 〉0.05） between the COPD group and healthy control group. The G allele frequency of Arg16Gly site between the two groups was 43.0%and 50.8% respectively, and the difference was statistically significant （ χ2=8. 471, P 〉0.05）. The G allele frequency of Gln27Glu loci was 13.9 % and 17.0 % respectively, there was no statistically significant difference （ x2 = 2. 449, P 〉 0.05）. Conclusions The Argl6Gly polymorphic loci of the β2-AR gene may be the genetic susceptibility indicators of COPD in Mongolian population in Inner Mongolia, while the Gln27Glu loci may not be related to the incidence of COPD in Mongolian population.