髓过氧化物酶基因(-463G/A)位点突变与饮水型地方性砷中毒皮肤病变关系的初步研究

Relationship between myeloperoxidase and skin lesion with drinking water-induced endemic arsenism

目的初步探讨髓过氧化物酶(myeloperoxidase,MPO)(-463G/A)基因位点突变与砷中毒皮肤病变的关系。方法于2010年12月在山西省山阴县饮水型砷中毒病区抽取家庭中有砷中毒引起的皮肤病变者共48人作为病例组,以无砷中毒皮肤病变者共45人作为对照组。采集口腔黏膜细胞,提取DNA。采用PCR-限制性片段长度多态性(PCR-RELP)法对MPO基因(-463G/A)位点进行基因分型。结果砷中毒组和对照组MPO(-463G/A)位点GA和GG基因型的分布频率间比较,差异无统计学意义(χ2=0.782,P>0.05)。调整性别、年龄等因素后未发现MPO(-463G/A)位点的多态性与饮水型砷中毒皮肤病变的发病风险有关联(ORadj=1.539,95%CI:0.648～3.655)。结论未发现MPO(-463G/A)位点的多态性与饮水型砷中毒皮肤病变的发病风险存在关联。

Objective To detect genetic polymorphism of myeloperoxidase （MPO） gene and to analyze their relationship with skin lesion with drinking water-induced endemic arsenism. Methods In an endemic arsenism area in Shanxi province, China in December, 2010,48 individuals with skin lesion induced by endemic arsenism were selected as the case group, 45 individuals without skin lesions as the control group. Their oral mucosa were collected,DNA were extracted from oral mucosa cell, polymerase chain reaction-restriction fragment length polymorphism technique was used to detect polymorphism of MPO（-463G/A）. Results As for the genotype frequency of MPO（-463G/A）, no significant difference was seen between the two groups （X2=0.782,P〉0.05）. The significant relationship between polymorphism of MPO （-463G/A） and the risk of endemic arsenim-induced skin lesion was not observed in this study （ORadj=l.539,95% CI：0.648-3.655）. Conclusion Genetic polymorphism of MPO（-463G/A） may not be related with the skin lesion with drinking water-induced endemic arsenism.