Study On Associations Of H63D Variant HFE Gene And Susceptibility To Lead Toxicity

Objective:To explore the relation between polymorphism of HFE gene and susceptibility to lead toxicity in lead exposure workers.Methods:771lead exposure workers with the Han nationality were selected from a lead factory in Jiangxi. Investigated demographic and working information of workers and collected blood samples and urine samples. Analyzed level in blood and urine, and Zpp in the blood.Genomic DNA was extracted by salting. Used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to study the polymorphism of the H63D site (rs1799945) and C282Y site (rs1800562) which both located in No.2exon and No.4exon in HFE gene respectively.Results:(1)771workers were collected,619male and152female.Mean age was32.80±9.08years, The mean work years was10.31±9.35years, The mean value(±SD) of lead blood,lead urine and zpp were345.9±157.95μg/L,53.90±74.74μg/L and8.52±8.62μg/gHb.(2)The frequency of H63D and C282Y genotypes in lead exposure workers with Han nationality compared with the theoretical frequency had no significant, fitted with Hardy-Weinberg genetic equilibrium (χ2=0.011,P=0.995;P=1).44(5.71%) were H63D heterozygous (HD),1person(0.13%) was H63D homozygous variant (DD), The frequency of H63D-H and H63D-D were97.02%and2.98%.Found no C282Y mutation individuals, all were the homozygous wild type. Compared with north American and Europe, The frequency of H63D mutation was lower, P<0.05,While with no difference compared Asian people, P>0.05.Compared with different sex,work type,marriage,education,dringking state,smoking state, the mutation of H63D was no significant difference.While compare with different blood lead levels, lead poisoning grade,the mutation of H63D was no significant difference (χ2=0385,P=0.825; χ2=0.842,P=0.839).(3) We used multiple linear regression established blood lead regression model.we found work type,age,sex,H63D and education were entered the blood lead regression model,the beta coefficients were0.512、-0.235、0.178、0.065,P<0.05。The regression model R2=0.449,F=60.930,P<0.01.Carrier H63D variant had blood lead level was6.5%higher than wild-type subjects. lead urine and zpp were done the natural logarithm transformation. work type,work years, sex, education were enterd the urine lead regression model,the beta coefficients were0.551,0.252,-0.100,-0.077, P<0.05. The regression model R2=0.429,F=54.634, P<0.01. and work type,work years and education were enterd the zpp regression model, the beta coefficients were0.491,0.249,-0.111,P<0.05. The regression model R2=0.401,F=50.528,P<0.01.Conclusion:(1) The frequency of HFE gene H63D and C282Y mutation in Chinese lead exposure workers with Han nationality was2.98%and0%, The mutation frequency was not increase.(2) Chinese lead exposure workers carried H63D variant of HFE gene increased susceptibility to lead toxicity.