摘要
目的探究广西人群葡萄糖-6-磷酸脱氢酶(G6PD)基因单核苷酸多态性(SNP)位点c.1311C>T和c.1004C>A与G6PD缺乏症的发病风险相关性。方法随机选取417例G6PD缺乏症患者作为病例组,295例健康人群作为对照组。使用SNPscan^(TM)多重SNP方法对c.1311C>T和c.1004C>A进行基因分型,通过SHEsis分析两位点单倍型频率。结果在病例组和对照组中,c.1311C>T位点的基因型TT,CC+CT和等位基因T的分布频率差异具有统计学意义[TT vs CC:(P=0.001,OR=0.373,95%CI=0.204~0.683);TT vs CC+CT:(P=0.001,OR=0.371,95%CI=0.203~0.678);T vs C:(P=0.002,OR=0.601,95%CI=0.435~0.829)];而c.1004 C>A位点的基因型和等位基因分布频率差异不具有统计学意义(P>0.05)。速率法检测结果显示:相对于基因型CC,c.1311C>T位点的基因型CT增加G6PD酶表达水平,基因型TT降低G6PD酶表达水平(P<0.05),单倍型结果显示C-C和T-C与G6PD发病风险有关(P<0.05)。结论在广西人群中,c.1311C>T位点基因型TT、CC+CT和等位基因T与G6PD缺乏症的发病风险降低具有相关性。
Objective To investigate the association between c.1311C>T and c.1004C>A of glucose-6-phosphate dehydrogenase(G6PD)gene single nucleotide polymorphism(SNP)with the risk of G6PD deficiency in Guangxi population.Methods 417 patients with G6PD deficiency were randomly selected as case group,and 295 healthy patients were selected as control group.The c.1311C>T and c.1004C>A were genotyped using the SNPscanTM multiple SNP method,and the haplotype frequency of two sites were analyzed by SHEsis.Results In the case and control group,there were statistically significant differences in the distribution frequency of genotype TT,CC+CT and allele T at c.1311C>T locus[TT vs CC:(P=0.001,OR=0.373,95%CI=0.204-0.683);TT vs CC+CT:(P=0.001,OR=0.371,95%CI=0.203-0.678);T vs C:(P=0.002,OR=0.601,95%CI=0.435-0.829)];however,there was no significant difference in genotype and allele distribution frequency at c.1004C>A locus(P>0.05).The results of the rate method showed that compared with genotype CC,the genotype CT at c.1311C>T increased the expression level of G6PD enzyme,while the genotype TT decreased the expression level of G6PD enzyme(P<0.05),the haplotype analysis showed that C-C and T-C were associated with G6PD risk(P<0.05).Conclusion In Guangxi population,c.1311C>T locus genotypes TT,CC+CT and allele T were related to the decreased risk of G6PD deficiency.
作者
石凤
滕元姬
何丽桥
李兰
李光景
仇雯丽
王春芳
王俊利
Shi Feng;Teng Yuanji;He Liqiao;Li Lan;Li Guangjing;Qiu Wenli;Wang Chunfang;Wang Junli(Reproductive Medicine Center, Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000;Graduate School, Youjiang Medical University for Nationalities, Baise 533000)
出处
《安徽医科大学学报》
CAS
北大核心
2022年第1期165-168,共4页
Acta Universitatis Medicinalis Anhui
基金
广西重点研发计划项目(编号:桂科AB18221029)。
