CAJ | 학술논문

目的探讨Toll样受体(TLR)4基因[rs4986790 (Asp299Gly)、rs4986791 (Thr399Ile)和rs2149356T＞G]单核苷酸多态性(SNPs)与我国汉族人群原发性痛风性关节炎(GA)发病的相关性.方法采用TaqMan(R)探针法检测459例男性GA患者及459名男性健康体检者(HC) TLR4基因3个SNPs位点；基因型及等位基因的分布频率、Hardy-Weinberg平衡(HWE)检验均采用x2检验.结果 TLR4基因Asp299Gly与Thr399Ile在所有研究对象均表现为野生型纯合子Asp/Asp与Thr/Thr; TLR4基因rs2149356在GA组和健康对照组均符合HWE (x2=0.778,1.295;P均＞0.05)；rs2149356位点GG、GT和TT基因型及G/T等位基因在2组的分布频率差异有统计学意义(x2=16.23,17.08,P均＜0.01),携带TT基因型个体发生痛风的风险较GG基因型高2.09倍(校正OR=2.09).结论 TLR4基因rs2149356T＞G SNP可能与我国汉族人群GA发病相关,TT基因型是GA发生的危险因素.
목적 탐토Toll양수체(TLR)4기인[rs4986790 (Asp299Gly)、rs4986791 (Thr399Ile)화rs2149356T＞G]단핵감산다태성(SNPs)여아국한족인군원발성통풍성관절염(GA)발병적상관성.방법 채용TaqMan(R)탐침법검측459례남성GA환자급459명남성건강체검자(HC) TLR4기인3개SNPs위점；기인형급등위기인적분포빈솔、Hardy-Weinberg평형(HWE)검험균채용x2검험.결과 TLR4기인Asp299Gly여Thr399Ile재소유연구대상균표현위야생형순합자Asp/Asp여Thr/Thr; TLR4기인rs2149356재GA조화건강대조조균부합HWE (x2=0.778,1.295;P균＞0.05)；rs2149356위점GG、GT화TT기인형급G/T등위기인재2조적분포빈솔차이유통계학의의(x2=16.23,17.08,P균＜0.01),휴대TT기인형개체발생통풍적풍험교GG기인형고2.09배(교정OR=2.09).결론 TLR4기인rs2149356T＞G SNP가능여아국한족인군GA발병상관,TT기인형시GA발생적위험인소.
Objective To investigate the association of TLR4 gene polymorphisms with susceptibility to primary gouty arthritis (GA) in Chinese Han population.Methods A total of 459 patients with GA and 459 healthy control subjects were enrolled into this study.All the genotyping assays of TLR4 gene polymorphisms loci [rs4986790 (Asp299Gly),rs4986791 (Thr399Ile),rs2 1 49356T＞G] were measured using TaqMan probes that specifically target the alternate alleles.Results All the subjects were found to be homozygous for the wild-type TLR4 alleles (Asp/Asp,Thr/Thr) on TLR4 Asp299Gly and Thr399Ile genotyping.There was no significant deviation from HWE both in GA and controlsin the rs2149356 (x2=0.778,1.295; P＞0.05,respectively).Significant differences were observed between the GA and control groups with respect to genotype and allele frequencies of TLR4 gene rs2149356 (x2=16.23,17.08; P＜0.01,respectively),and TT genotype was the risk factor for gout (adjusted OR=2.09).Conclusion The TLR4 gene rs2149356 SNP may be associated with GA susceptibility,and TT genotype may be the risk factor for developing gout.