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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。
Objective To investigate the relationship between genetic polymorphisms of heme oxygenase-1 (HO-1) BccI gene and susceptibility to occupational chronic manganese poisoning. Methods The ratio of HO-1 gene in 200 chronic occupational manganese poisoning patients and 400 control patients was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a 1: 2 matched case-control study Relationship Between BccI Locus Genotype, Statistical Analysis of Genetic Polymorphisms and Occupational Chronic Manganese Poisoning. Results There was no homozygous mutant genotype. There was no significant difference in the distribution of BccI locus allele and genotype in HO-1 gene between the control group and the case group. There was also no statistical difference in distribution between the male case group and the control group However, stratified analysis showed that the risk of occupational chronic manganese poisoning was 2.632 times as high as R (95% CI = 1.210 ~ 5.724). Individuals with genotype RS had a 2.788-fold (95% CI = 1.251-6.616) risk of occupational chronic manganese poisoning with genotype RR individuals. Conclusion The BccI gene polymorphism of HO-1 gene was not found to be associated with the susceptibility to occupational chronic manganese poisoning. However, it was found that individuals carrying the S allele or RS genotype in the 20-29-year-old population developed occupations The risk of chronic manganese poisoning increases.