SET8基因3’非翻译区miR-502结合位点多态性与脂代谢紊乱的相关性  

Relationship between polymorphism at mi R-502 binding site in 3' untranslated region of SET8 gene and lipid metabolism disorder

作　　者：宋雪琴[1] 程锦楠[1] 谢芳 伍攀云 胡双雁 邓宇[3] 陈枫[1] 

机构地区：[1]四川医科大学第一附属医院医学实验中心,四川泸州646000 [2]四川医科大学,四川泸州646000 [3]重庆医科大学第二临床医院,重庆400010

出　　处：《中国现代医学杂志》2015年第21期43-47,共5页China Journal of Modern Medicine

基　　金：四川省卫生厅科研课题(No:120348)

摘　　要：目的探讨SET8基因3’非翻译区miR-502结合位点（rsl6917496）多态性与泸州地区汉族脂代谢紊乱的关系。方法应用聚合酶链式反应-限制性内切酶长度多态性（PCR—RFLP）技术。对531例脂代谢紊乱患者和517例正常对照组的SET8基因rsl6917496位点进行多态性分析。结果SET8基因rsl6917496位点的CC、CT和TT3种基因型在脂代谢紊乱组中的频率分别为6．6％、39．7％和53．7％，在对照组为10．4％、43．9％和45．7％，两组比较差异有统计学意义（X^2=9．061，P=0．011）；与CC＋CT基因型相比，TT基因型脂代谢紊乱发生风险增加（OR=1．137，95％CI=I．082～1．759，P=O．009）。等位基因C、T频率在脂代谢紊乱组和对照组分别为26．5％、73．5％和32．4％、67．6％，两组间有统计学差异（X^2=8．905，P=0．003），T等位基因相对于C等位基因增加脂代谢紊乱的发生风险（OR=1．332，95％CI=1．103～1．608）。结论SET8基因rsl6917496位点基因多态性与泸州地区汉族人群脂代谢紊乱的发生有一定的相关性，TT基因型和T等位基因是脂代谢紊乱发生的危险因素。[ Objective] To investigate the relationship between polymorphism at the miR-502 binding site in the 3＇ untranslated region of SET8 gene （rs16917496） and lipid metabolism disorder in the Han people of Luzhou area. [Methods] The single nucleotide polymorphism （SNP） of SET8 gene rs16917496 was detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 531 patients with dyslipidemia and 517 normal controls. [ Results] The frequencies of genotype CC, CT and TT at SET8 gene rs16917496 in the dyslipidemia group and the normal control group were 6.6%, 39.7%, 53.7% and 10.4%, 43.9%, 45.7%, respectively （X^2 = 9.061, P =0.011）. Compared with CC/CT genotype, TT genotype showed an increased risk of lipid metabolism disorder （OR = 1.137, 95%CI = 1.082-1.759, P = 0.009）. Allele frequencies of C and T were 26.5% and 73.5% in the dyslipidemia group, and 32.4% and 67.6% in the normal control group respectively with statistical differences （X^2 = 8.905, P = 0.003）. Compared with allele C, allele T had an increased risk of lipid metabolism disorder （OR = 1.332, 95%CI = 1.103-1.608）. [ Conclusions] SET8 gene rs16917496 may correlate with dyslipidemia in Han population of Luzhou area. TT genotype and allele T are the risk factors of lipid metabolism disorder.

关 键 词：单核苷酸多态性 SET8基因 miR-502 脂代谢紊乱 

分 类 号：R589.2[医药卫生—内分泌]