| Objective To investigate the association between SNP of SLC22A12 rs11231825 and rs121907892 and SLC2A9 rs7442295 and rs2276961 and PDZK1 rs12129861 with hyperuricemia of Hui and Han nationality healthy check-up crowd in Ningxia Hui Autonomous Region,to provide a preliminary clue of pathogen and a theoretical basis for the study of population genetics of hyperuricemia in our district.Methods1.The subjects were selected from April to July 2015,in a medical institution for health examination in Ningxia Hui Autonomous Region.According to the inclusion and exclusion criteria,365 unrelated patients with hyperuricimia for the case group.According to gender,ethnicity and age(no more than 5 years),were checked in the same medical institution with similar background,matched with 1:1 for case group as the control group.General demographic characteristics including 229 males,and 136 females,the Han and Hui ethnicity were 167 and 198,respectively.The subjects of case group age range were from 29 to 80 years old.Mean age was 56.76±9.38 years old.The age range was from 28 to 81 years old.Mean age was 56.68±9.41 years old for the control group.2.Research methods The subjects of demographic questionnaire,physical examination and laboratory biochemical tests results were collected by well-trained investigators,Through laboratory biochemical indicator detection to collect the subjects’ biochemical indicators.The SNP of SLC22A12 gene rs11231825,rs121907892 and SLC2A9 gene rs2276961,rs7442295 and PDZK1 gene rs12129861 was detected by Sequenom Mass ARRAY iPLEX GOLD technique in the case group and control group with the venous blood,.The frequency distribution of the genotypes of the samples was tested using the Hardy-Weinberg equilibrium law.T-test was performed to analyze the difference for multiple groups ofquantitative data;Marginal Homogeneity test was used to analyze the classification of multiple related sample.The chi-square test was used to compare the genotype and allele distribution of different groups.The wilcoxon rank sum test was used to analyze the two population distributions.Gene interaction of SLC22A12 gene rs11231825,rs121907892 and SLC2A9 gene rs2276961,rs7442295 and PDZK1 gene rs12129861 was analyzed by MDR software.Logistic regression was used to analyze the influential factors of hyperuricemia.Results1.Comparison of physical examination index The mean values of Crea,TC,TG,SBP and BMI were higher than those in the control group,BUN,FBG,HDL,LDL and DBP were not statistically significant.In the Han nationality,the mean values of Crea,TC,TG and BMI were statistically significant,BUN,FBG,HDL,LDL,SBP and DBP were not statistically significant.There were statistically significant differences in Crea.TG,and SBP in the Hui population,and the rest index were not statistically significant.2.Genotype distribution In the case group,SLC22A12 gene rs11231825 site CC genotype frequency was 32,CT genotype frequency 145,TT genotype frequency 188,in the control group CC genotype frequency was 20,CT genotype frequency 147,TT genotype frequency198.SLC22A12 gene rs121907892 locus in the case of AA genotype frequency was 0,AG genotype frequency 1,GG genotype frequency 364,in the control group AA genotype frequency was 0,AG genotype frequency 1,GG genotype frequency 364.SLC2A9 gene rs2276961 locus in the case of CC genotype frequency was 99,CT genotype frequency 183,TT genotype frequency 83,in the control group CC genotype frequency was 117,CT genotype frequency 181,TT genotype frequency 67.SLC2A9 gene rs7442295 locus in the case of AA genotype frequency was 346,AG genotype frequency 19,GG genotype frequency0,in the control group AA genotype frequency was 346,AG genotype frequency 17,GG genotype frequency 2.PDZK1 gene rs12129861 locus in the case of AA genotype frequency was 12,AG genotype frequency 109,GG genotype frequency 244,in the control group AAgenotype frequency was 9,AG genotype frequency 113,GG genotype frequency 243.3.Case and control group genotype analysis There was no statistically significant in SLC2A9 gene rs2276961,rs7442295 site,and SLC22A12 gene rs121907892,rs11231825 site,and PDZK1 gene rs11231825 site between case and control group.In hyperuricemia group,there was statistically significant difference between different nationalities in the genotype and allele of SLC2A9 gene rs7442295 SNP site.In the control group,the comparison between the different nationalities showed that the allele of the rs7442295 locus of the SLC2A9 gene was statistically significant,In control group,the comparison between different sexes showed that the genotype of rs7442295 locus of SLC2A9 gene was statistically significant.4.Stratification analysis There were not significantly different between the case and control group of SLC22A12 gene rs11231825,rs121907892 site and SLC2A9 gene rs17442295,rs2276961 site and PDZK1 rs12129861 site genotype frequency in different ethnic groups and sexes.5.Case and control group with the level of metabolic syndrome The results showed that the obesity.Hypertension and dyslipidemia were statistically significant.The wilcoxon rank sum test was used to analyze the two groups were statistically significant.There was a statistically significantly different between the metabolic syndrome in the case group and control group.6.There was no statistically significant difference between the case and control group of SLC22A12 gene rs11231825,rs121907892 site and SLC2A9 gene rs17442295,rs2276961 site and PDZK1 rs12129861 site with different genetic models.7.Comparison between genotype and physical examination Carrying the rs11231825 locus CC genotype,examination index HDL were significant differences between cases and controls,Carrying the locus CT genotype,examination index Crea 、 TC and TG were significant differences between cases and controls,Carrying the locus TTgenotype,examination index Crea、TG and BMI were significant differences between cases and controls.Carrying the rs121907892 locus GG genotype,examination index Crea、TC、TG、SBP and BMI were significant differences between cases and controls.Carrying the rs2276961 locus CC genotype,examination index Crea 、 TG and BMI were significant differences between cases and controls,Carrying the locus CT genotype,examination index Crea 、 TG 、 HDL and BMI were significant differences between cases and controls(P<0.05),Carrying the locus TT genotype,examination index TG and TC were significant differences between cases and controls.Carrying the rs7442295 locus AA genotype,examination index Crea、TC、TG、SBP and BMI were significant differences between cases and controls.Carrying the rs12129861 locus CT genotype,examination index BMI was significant differences between cases and controls.Carrying the locus TT genotype,examination index Crea、TG、TC、SBP and BMI were significant differences between cases and controls.8.MDR analysis results show that carrying the rs2276961 locus CC genotype,containing rs11231825 locus CC genotype and rs12129861 locus AG,GG genotype;And carrying the rs2276961 locus CC genotype and the rs11231825 locus CT genotype and rs12129861 locus AA,AG genotypes;and carrying the rs2276961 locus CT genotype and rs11231825 locus CC genotype and rs12129861 locus AG,GG genotypes;and carrying the rs2276961 locus CT genotype and rs11231825 locus CT genotype and rs12129861 locus AA,AG genotypes;and carrying the rs2276961 locus CT genotype and rs11231825 locus TT genotype and rs12129861 locus AA genotype;and carrying the rs2276961 locus TT genotype and rs11231825 locus CC genotype and rs12129861 locus AG genotype,and carrying the rs2276961 locus TT genotype and rs11231825 locus CT genotype and rs12129861 locus AA,AG genotype,and carrying the rs2276961 locus TT genotype and rs11231825 locus TT genotype and rs12129861 locus GG genotype,which are high-risk individuals with hyperuricemia.The difference of the constituent ratio between the high-risk genotype groupand the control group was statistically significant.The risk of hyperuricemia in high-risk genotype populations was 1.878 times higher than the risk of carrying a low-risk genotype.There was no significant difference in the composition ratio between different ethnic groups and sexual high risk genotype groups and control group.The best tree model show that PDZK1 gene rs12129861 and SLC22A12 gene rs11231825 and SLC2A9 gene rs2276961 have a weak synergy effect,while the rs11231825 of the SLC22A12 gene and the rs2276961 locus of the SLC2A9 gene may have significant antagonistic effects.9.Logistic regression analysis showed that Crea,TC,SBP and BMI were the influencing factors of hyperuricemia.Conclusion1.In the case group,the genotype and allele distribution of rs7442295 locus of SLC2A9 gene are correlated with different nationalities;Control group,allele distribution of rs7442295 locus of SLC2A9 gene are correlated with different nationalities and the genotype distribution of rs7442295 locus of SLC2A9 gene are correlated with different gender.2.There has association between the metabolic syndrome and hyperuricemia3.Cree,TC,SBP and BMI are risk factors of hyperuricemia.4.The risk of hyperuricemia in high-risk genotypes was 1.878 times higher than that of low-risk genotypes.PDZK1 gene rs12129861 and SLC22A12 gene rs11231825 and SLC2A9 gene rs2276961 have a weak synergy effect,while the rs11231825 of the SLC22A12 gene and the rs2276961 locus of the SLC2A9 gene may have significant antagonistic effects. |
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