HO-1基因BccI位点多态性与职业性慢性锰中毒易感性关系的病例对照研究

目的探讨血红素加氧酶-1(HO-1)基因BccI位点多态性与职业性慢性锰中毒遗传易感性的关系。方法采用1∶2配对病例-对照研究的方法,应用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)测定200例职业性慢性锰中毒患者与400例对照组HO-1基因BccI位点基因型,统计分析基因多态性与职业性慢性锰中毒的关系。结果未发现突变纯合基因型;HO-1基因BccI位点等位基因及基因型在对照组和病例组中分布差异无统计学意义;在男性病例组与对照组中的分布差异亦无统计学意义;但分层分析后发现在工龄20～29 a的对照组和病例组中,等位基因S携带者发生职业性慢性锰中毒的危险性为R的2.632倍(95%CI=1.210～5.724),携带基因型RS的个体患职业性慢性锰中毒的危险性是携带基因型RR个体的2.788倍(95%CI=1.251～6.216)。结论未发现HO-1基因BccI位点基因多态性与职业性慢性锰中毒的易感性有关,但发现在工龄20～29 a的人群中携带S等位基因或具有RS基因型的个体发生职业性慢性锰中毒的危险性增加。

Case-control study on polymorphisms of HO-1 gene BccI locus with susceptibility to occupational chronic manganese poisoning

Objective] To study the relation of polymorphisms of HO-1 gene BccI locus with susceptibility to occupational chronic manganese poisoning. Methods ] In a study of 1 ： 2 case-control, genotyping polymerase chain reaction-restriction fragment length polymorphism （ PCR-RFLP） was used to determine the polymorphism of the HO-1 gene BccI locus of 200 cases of occupational chronic manganese poisoning and 400 controls. And the relationship between gene polymorphism and occupational chronic manganese poisoning was analyzed. Results] Mutated homozygous genotype was not found. There was no significant difference in the frequency of HO-1 genotype at BccI locus between cases and controls, and distribution of genotypes was not significantly different between male cases and controls. After stratified analysis on service length, S allele was susceptive to occupational chronic manganese poisoning more than 2. 632 times of R （95 % CI = 1.210-5. 724）. Individuals with the genotype RS at BccI locus had 2. 788 times of risk increase of occupational chronic manganese poisoning, compared with the genotype RR （95% CI = 1. 251-6. 216 ）. Conclusion] HO-1 genotype at BccI locus polymorphisms may not be related with the susceptibility to occupational chronic manga- nese poisoning. People working 20-29 years and carrying the S allele or RS genotype have an increased risk of occupational chronic manganese poisoning.