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[维吾尔族人群中支气管哮喘解聚素和金属蛋白酶基因多态性与其严重程度的关系]

[Relationship between disintegrin and metalloproteinase gene polymorphism of bronchial asthma and its severity in Uygur population].

作者信息

Yao Lidan, Cui Shihong, Wushouer Qimanguli, Xia Yu, Yan Fang, Simayi Mihereguli, Yang Zengrong, Wang Jing

机构信息

Department of Respiratory Medicine, First Affiliated Hospital, Xinjiang Medical University, Urumqi 830054, China.

Department of Respiratory Medicine, First Affiliated Hospital, Xinjiang Medical University, Urumqi 830054, China. Email:

出版信息

Zhonghua Yi Xue Za Zhi. 2014 Jun 24;94(24):1866-9.

Abstract

OBJECTIVE

To explore the relationship between disintegrin and metalloproteinase (ADAM33) gene polymorphism of bronchial asthma and its severity in Xinjiang Uygur population.

METHODS

From January to December 2009, a total of 126 consecutive Uighur asthmatics with a definite diagnosis at First Affiliated Hospital of Xinjiang Medical University were assigned into intermittent mild (n = 62), moderate (n = 39) and severe (n = 25) groups according to the severity of illness. The control group was a 1: 1 paired population from healthy subjects matched similarly with regards to gender, race, residence and age (with a difference <5 years). The ADAM33 gene polymorphisms of F+1, S+1, T1, T2 and V4 locus allele in each group were tested by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTS

In ADAM33, the distribution of T1, T2 and V4 locus allele in asthmatics and controls had a significant difference (χ² = 8.064, P = 0.018; χ² = 8.013, P = 0.018 and χ² = 11.737, P = 0.003). The distribution of allelic frequency showed that all T1 (C), T2 (A) and V4 (G) locus allele increased the relative risk degree of asthmatics (OR = 2.080, 2.139 and 1.912). The distribution frequency of T1 (TC and TT), T2 (AG and GG), V4 (GG and CC) genotypes in mild, moderate and severe groups had significant differences (all P < 0.05).Linkage disequilibrium analysis showed that in asthmatics, the presence of Hap2 (CATGC) was much lower than controls (20.4% vs 30.4%; χ² = 6.597, P = 0.010) while Hap4 (CACAC) and Hap5 (TACAG) were much higher than those in controls (9.6% vs 4.8% and 6.8% vs 2.8%; χ² = 4.545, P = 0.033 and χ² = 4.377, P = 0.036).

CONCLUSIONS

The ADAM33 gene polymorphism of T1, T2 and V4 locus allele may be associated with asthma and its severity in Xinjiang. And Uighur population may have both susceptible and protective haplotypes of asthmatics.

摘要

目的

探讨新疆维吾尔族人群中支气管哮喘患者解整合素金属蛋白酶33(ADAM33)基因多态性与其病情严重程度之间的关系。

方法

2009年1月至12月,新疆医科大学第一附属医院共纳入126例确诊的维吾尔族哮喘患者,根据病情严重程度分为间歇性轻度组(n = 62)、中度组(n = 39)和重度组(n = 25)。对照组为按1:1配对的健康人群,在性别、种族、居住地和年龄方面匹配(差异<5岁)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测各组中ADAM33基因F+1、S+1、T1、T2和V4位点等位基因的多态性。

结果

在ADAM33基因中,哮喘患者与对照组T1、T2和V4位点等位基因的分布存在显著差异(χ² = 8.064,P = 0.018;χ² = 8.013,P = 0.018;χ² = 11.737,P = 0.003)。等位基因频率分布显示,所有T1(C)、T2(A)和V4(G)位点等位基因均增加了哮喘患者的相对危险度(OR = 2.080、2.139和1.912)。轻度、中度和重度组中T1(TC和TT)、T2(AG和GG)、V4(GG和CC)基因型的分布频率存在显著差异(均P < 0.05)。连锁不平衡分析显示,在哮喘患者中,单倍型2(CATGC)的存在低于对照组(20.4%对30.4%;χ² = 6.597,P = 0.010),而单倍型4(CACAC)和单倍型5(TACAG)高于对照组(9.6%对4.8%和6.8%对2.8%;χ² = 4.545,P = 0.033;χ² = 4.377,P = 0.036)。

结论

ADAM33基因T1、T2和V4位点等位基因多态性可能与新疆地区哮喘及其严重程度相关。维吾尔族人群可能存在哮喘的易感和保护单倍型。

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