Association Between Human Urate-anion Exchanger (hURAT1) Gene C426T Polymorphism And Hyperuricemia

Objective To study whether the C426T polymorphism of human urate-anionexchanger (hURAT1) gene is associated with primary hyperuricemia and gout of Hannationality in eastern coast of Shandong Province.Methods hURAT1 gene C426T polymorphism in 260 subjects of Han nationalityin eastern coast of Shandong Province were examined by polymerase chain reactionsequence-specific primers technique and gene sequencing technique,of which there are160subjects with high uric acid levels and 100 normal subjects(CON 100 cases,female20,male 80,mean age49.87±11.29Y). The 160 subjects were divided into twogroups:merely hypernricemia group (UA-1 100 cases,female 22,male 78,mean age50.20±11.08Y)and hyperuricemia associated with gout group(UA-2 60 cases,female13,male47,mean age 50. 62±12.07Y) by with or without gout attacks. Combined by 2%agarose gel electrophoresis,the allele and genotype among each group were compared,The relationship between the clinical results,gene polymorphism and the mobility ofhyperuricemia were studied by multiple regression analysis.Results (1)There are no significant difference of sex and age among the threegroups. Nearly all. indexes of group UA-1 and UA-2 are different from those of groupCON (P＜0.05). Waistline and body mass index of group UA-2 are higher than those ofgroup UA-1 (P＜0.05), while no significant difference between other indexes (P＞0.05).(2)There are C, T allele and CC, CT, TT genotype in the 260 cases.The mutational T allelefrequency is 37% in group CON and 51.25% in group UA, which are significantlydifferent(P＜0.01).(3)In group UA, there is not difference of genetype frequency betweenmale and female,and so is group CON.(4) The frequencies of genetype TC+TT aresignificantly higher in group UA and UA-1 than in group CON (P＜0.05),while there isno significant difference between group UA-2 and group CON (P＞0.05).There is also nosignificant difference between group UA-1 and UA-2(P＞0.05).(5)In group UA and groupCON,the uric acid levels of TT genetype are significantly higher than TC,CC genetypes(P＜0.01),and the uric acid levels of CT genetype is higher than CCgenetypes(P＜0.05).(6)Multiple regression analysis suggests that the allele T,waist-to-hipratio, BMI,triglyceride,total cholesterol, high density lipoprotein are correlation factors ofhyperuricemia.Conclusions (1)There are hURAT1 C426T polymorphism in Han nationality ofeastern coast of Shandong Province.The mutational T allele frequence in normal cases is37%.There are not difference of genetype frequencies between male and female.(2)hUART1 C426T polymorphism is associated with hyperuricemia,it may be one of theSNPs and genetic marks of primary hyperuricemia, but hURAT1 C426T polymorphismmaybe is not associated with hyperuricemia progressing to gout.(3)The alleleT,waist-to-hipratio,BMI,tdglycedde and total cholesterol and high density lipoprotein areassociated with hyperuricemia.