山东医药2024，Vol.64Issue(25)：26-29,34,5.DOI:10.3969/j.issn.1002-266X.2024.25.006
PXR基因单核苷酸多态性与2型糖尿病患病风险的关系
Relationship between single nucleotide polymorphism of PXR gene and risk of type 2 diabetes mellitus
摘要
Abstract
Objective To investigate the relationship between the single nucleotide polymorphism(SNP)of preg-nane X receptor(PXR)gene and the risk of type 2 diabetes mellitus(T2DM).Methods Totally 285 T2DM patients(observation group)and 230 healthy volunteers(control group)were selected.Fasting peripheral venous blood of all sub-jects was collected,genomic DNA was extracted,and PXR gene sites rs1523127,rs3814055 and rs6785049 were sequenced and genotyping was performed.Serum PXR,glucose transporter 2(GLUT2)and glucokinase(GCK)were detected by enzyme ELISA.The genotypes and allele frequencies of rs1523127,rs3814055,rs6785049 and serum levels of PXR,GLUT2 and GCK were compared between the two groups.We analyze the relationship between SNP of PXR gene and the risk of T2DM.Results Through Hardy-Weinberg genetic balance test,the genotypes and allele frequencies of PXR genes at different loci were consistent with the law of genetic balance in the two groups.There were no significant dif-ferences in genotypes or allele frequencies of rs1523127 and rs6785049 of PXR gene between two groups(all P>0.05).The frequencies of CT/TT genotype and T allele at rs3814055 of PXR gene in the observation group were higher than those in the control group(both P<0.05),and the odds ratio(OR)of T2DM patients with CT and TT genotype was 1.591 and 2.398 times higher than that of patients with CC genotype.The OR of T allele carriers for T2DM was 1.638 times higher than that of C allele carriers.Serum PXR level in the observation group was higher than that in the control group,and serum GLUT2 and GCK levels were lower than those in the control group(both P<0.05).The level of serum PXR in CT/TT genotype at rs3814055 of PXR gene in T2DM patients was higher than that in patients with CC genotype,and the levels of serum GLUT2 and GCK were lower than those in patients with CC genotype(both P<0.05).Conclusion The mutation of C allele at rs3814055 of PXR gene to T allele can increase its transcriptional activity,inhibit serum GLUT2 and GCK levels,impair glucose tolerance,and increase the risk of T2DM.关键词
2型糖尿病/孕烷X受体基因/单核苷酸多态性/患病风险Key words
type 2 diabetes mellitus/pregnane X receptor gene/single nucleotide polymorphism/disease risk分类
医药卫生引用本文复制引用
刘强,李素芳,王楠,卢永霞,邓洁,何丽..PXR基因单核苷酸多态性与2型糖尿病患病风险的关系[J].山东医药,2024,64(25):26-29,34,5.基金项目
四川省科研课题普及应用项目(20PJ311). （20PJ311）
