CAJ | 학술논문

目的探讨中国山东沿海地区汉族人群RNASET2基因多态性位点(single nucleotide polymorphism,SNP)与Graves病(Graves disease,GD)的相关性.方法应用TaqMan探针技术在Fluidigm EP1平台上对471例Graves病患者和472名健康对照者的标签SNP进行基因分型并构建单倍型.结果 rs3777722、rs3777723和rs9355610等位基因频率在GD组和对照组中差异有统计学意义(P=0.018;P=0.028;P=0.021).GD组携带rs3777722-A等位基因频率显著偏低(P=0.018),且rs9355610-A等位基因频率显著偏低(P=0.021).rs3777722的3种基因型A/A、A/C、C/C,以及rs9355610的3种基因型A/A、A/G、G/G在两组中分布显著不同(P=0.035,P=0.018).A-A-C-A和A-A-T-A单倍型频率在对照组明显高于GD组,差异有统计学意义(P=0.046,OR=0.448,95％CI:0.200～1.006;P=0.049,OR=0.823,95％CI:0.678～0.999),而C-G-C-G单倍型频率在GD组明显高于对照组(P=0.018),该单倍型发生GD的风险增加1.257倍(95％CI:1.040～1.520);其他单倍型在两组间的分布差异无统计学意义.结论 RNASET2基因多态性及单倍型与山东沿海地区汉族人GD的发生相关,rs3777722和rs9355610是GD发病的易感位点.
목적 탐토중국산동연해지구한족인군RNASET2기인다태성위점(single nucleotide polymorphism,SNP)여Graves병(Graves disease,GD)적상관성.방법 응용TaqMan탐침기술재Fluidigm EP1평태상대471례Graves병환자화472명건강대조자적표첨SNP진행기인분형병구건단배형.결과 rs3777722、rs3777723화rs9355610등위기인빈솔재GD조화대조조중차이유통계학의의(P=0.018;P=0.028;P=0.021).GD조휴대rs3777722-A등위기인빈솔현저편저(P=0.018),차rs9355610-A등위기인빈솔현저편저(P=0.021).rs3777722적3충기인형A/A、A/C、C/C,이급rs9355610적3충기인형A/A、A/G、G/G재량조중분포현저불동(P=0.035,P=0.018).A-A-C-A화A-A-T-A단배형빈솔재대조조명현고우GD조,차이유통계학의의(P=0.046,OR=0.448,95％CI:0.200～1.006;P=0.049,OR=0.823,95％CI:0.678～0.999),이C-G-C-G단배형빈솔재GD조명현고우대조조(P=0.018),해단배형발생GD적풍험증가1.257배(95％CI:1.040～1.520);기타단배형재량조간적분포차이무통계학의의.결론 RNASET2기인다태성급단배형여산동연해지구한족인GD적발생상관,rs3777722화rs9355610시GD발병적역감위점.
Objective To assess the association of RNASET2 gene polymorphisms and haplotypes with Graves disease (GD) in Han Chinese population from coastal regions of Shandong Province.Methods A total of 471 GD patients and 472 controls were enrolled.Genotypes of single nucleotide polymorphisms (SNPs) in RNASET2 gene were determined with a Taqman probe on a Fluidigm EP1 platform.Haplotypes and their frequencies were analyzed with a SHEsis online software.Results There was a significant difference in allele frequencies of rs3777722,rs3777723 and rs9355610 between the GD patients and the controls (P =0.018; P =0.028; P =0.021).Allele frequencies of rs3777722 and rs9355610 were significantly lower in GD than in the controls (P=0.018,P=0.021).Haplotypes A-A-C-A and A-A-T-A were significantly more common in the control group compared with the GD group (P=0.046,OR =0.448,95％CI:0.200-1.006;P=0.049,OR=0.823,95％CI:0.678-0.999).The frequency of C-G-C-G haplotype was significantly higher in GD patient group than the control group (P=0.018).Conclusion RNASET2 gene polymorphisms and haplotypes are associated with GD in Han population from coastal areas of Shandong Province.rs3777722 and rs9355610 may contribute to the risk for GD.