基于靶基因捕获测序法对海南汉族寻常性银屑病与GC基因关系的研究  

Study on the relationship between psoriasis vulgaris and GC gene in Hainan Han nationality based on target gene capture sequencing

作　　者：刘琨 刘军麟[1] 袁丞达[2] 陆春婉 殷梅 LIU Kun;LIU Jun-lin;YUAN Cheng-da;LU Chun-wan;YIN Mei(Department of Dermatology and Venereology,The Second Affiliated Hospital of Hainan Medical University,Haikou 570311,China;Department of Dermatology and Venereology,Hangzhou Hospital of Traditional Chinese Medicine,Hangzhou 310005,China;Department of Medical Examination,The Second Affiliated Hospital of Hainan Medical University,Haikou 570311,China)

机构地区：[1]海南医学院第二附属医院皮肤性病科,海南海口570311 [2]杭州市中医院皮肤性病科,浙江杭州310005 [3]海南医学院第二附属医院体检科,海南海口570311

出　　处：《海南医学院学报》2022年第22期1710-1716,共7页Journal of Hainan Medical University

基　　金：国家自然科学基金项目(81860551);海南省卫生健康行业科研项目(21A200466)。

摘　　要：目的:探讨GC基因多态性与寻常性银屑病的关系。方法:采用靶基因捕获测序法对101例海南籍汉族寻常性银屑病患者与79例海南籍健康对照者的GC基因及其上、下游各2 kb进行全长测序,对最小等位基因频率大于1%且对照组Hardy-Weinberg平衡检验P值大于0.05的单核苷酸多肽性(SNP)在四种遗传模式下进行基于SNP的关联分析。采用生物信息学方法预测外显子区风险位点对基因功能的影响。结果:共检测到94个SNP,其中93个符合纳入标准。在基于SNP的关联分析中,有21个SNP(16个位于内含子、2个位于外显子及3个位于非翻译区)至少在一种遗传模式下为银屑病的易感位点(P<0.05),OR为0.289~2.295,95%CI为0.048~12.670。生物信息学预测显示位于外显子11上的rs4588为非同义突变,可将苏氨酸转换为赖氨酸(SIFT Score=0.481、SIFT Score Pred为T),另一个位于外显子8上的rs4752A>G为同义突变,未导致氨基酸的改变。结论:GC基因与海南汉族寻常性银屑病易感性相关。Objective:To investigate the relationships between GC gene polymorphisms and psoriasis vulgaris.Methods:A total of 101 patients with psoriasis vulgaris and 79 healthy controls were enrolled into this study,and they were all of Han nationality from Hainan province.The target gene capture sequencing method was used to sequence the full length of the GC gene and its2kb upstream and downstream regions.SNP-based association analysis was performed under four genetic modes in SNPs with minimum allele frequency greater than 1%and the P value of Hardy-Weinberg equilibrium test in the control group is greater than0.05.Bioinformatics methods were used to predict the impact of risk SNP on gene function.Results:A total of 94 SNPs were detected,of which 93 met the inclusion criteria.SNP-based association analyses showed that 21 SNPs(16 in introns,2 in exons,and 3 in Untranslated Regions)were susceptible to psoriasis vulgaris in at least one genetic mode(OR=0.289-2.295,95%CI=0.048-12.670,P<0.05).Bioinformatic prediction indicates that rs4588,located in the exon 11,was a non-synonymous mutation and can convert threonine to lysine(SIFT Score=0.481,SIFT Score Pred=T).rs4752 A>G located in the exon 8 was a synonymous mutation and did not cause amino acid change.Conclusion:GC gene is associated with the susceptibility of psoriasis vulgaris in Hainan Han ethnic group.

关 键 词：GC基因 银屑病 单核苷酸多态性 关联分析 

分 类 号：R758.63[医药卫生—皮肤病学与性病学]