CAJ | 학술논문

目的探讨中国长江以南汉族人群中程序性细胞凋亡1基因(programmed celll death 1,PDCD1)多态性与紫外线暴露在系统性红斑狼疮(systemic lupus erythematosus,SLE)发病中的关系.方法采用病例对照研究设计,收集159例病例和159名对照,应用聚合酶链反应-限制性片段长度多态技术检测PDCD1基因多态;分别在隐性、显性、相加及共显性遗传模式下,应用Logistic回归模型估计基因、环境及基因-环境交互效应.结果根据赤池信息量准则(Akaike's Information Criteria,AIC)值最小原则,筛出3个相加遗传模式下的最优模型和1个显性遗传模式下的最优模型.控制年龄与性别因素后,4个模型均存在SLE患病人群既往紫外线暴露率高于对照组,差异有统计学意义(P值均＜0.05).在由PDCD1基因PD1.2、PD1.5及PD1.6多态位点等位基因组成的单倍型方面,在相加遗传模式下,SLE患者人群的G-T-A单倍型频率高于对照组(0.1196 vs 0.0363),差异有统计学意义(P＜0.05,OR=4.319);而A-C-A单倍型频率病例组低于对照组(0.4746 vs 0.5399),差异亦有统计学意义(P＜0.05,OR=0.571);此遗传模式下,还发现A-C-G单倍型与紫外线暴露存在交互作用,(β5=1.182,Z=2.2898,P＜0.05,OR=3.261).此外,在显性遗传模式下,SLE患者人群的G-C-G单倍型频率高于对照组(0.1287 vs 0.0361),差异有统计学意义(P＜0.05,OR=4.332).结论特定遗传模式下,紫外线暴露、PDCD1基因G-C-G或G-T-A单倍型以及A-C-G单倍型与紫外线暴露的交互作用可能与中国长江以南汉族人群系统性红斑狼疮的遗传易感性相关.
목적 탐토중국장강이남한족인군중정서성세포조망1기인(programmed celll death 1,PDCD1)다태성여자외선폭로재계통성홍반랑창(systemic lupus erythematosus,SLE)발병중적관계.방법 채용병례대조연구설계,수집159례병례화159명대조,응용취합매련반응-한제성편단장도다태기술검측PDCD1기인다태;분별재은성、현성、상가급공현성유전모식하,응용Logistic회귀모형고계기인、배경급기인-배경교호효응.결과 근거적지신식량준칙(Akaike's Information Criteria,AIC)치최소원칙,사출3개상가유전모식하적최우모형화1개현성유전모식하적최우모형.공제년령여성별인소후,4개모형균존재SLE환병인군기왕자외선폭로솔고우대조조,차이유통계학의의(P치균＜0.05).재유PDCD1기인PD1.2、PD1.5급PD1.6다태위점등위기인조성적단배형방면,재상가유전모식하,SLE환자인군적G-T-A단배형빈솔고우대조조(0.1196 vs 0.0363),차이유통계학의의(P＜0.05,OR=4.319);이A-C-A단배형빈솔병례조저우대조조(0.4746 vs 0.5399),차이역유통계학의의(P＜0.05,OR=0.571);차유전모식하,환발현A-C-G단배형여자외선폭로존재교호작용,(β5=1.182,Z=2.2898,P＜0.05,OR=3.261).차외,재현성유전모식하,SLE환자인군적G-C-G단배형빈솔고우대조조(0.1287 vs 0.0361),차이유통계학의의(P＜0.05,OR=4.332).결론 특정유전모식하,자외선폭로、PDCD1기인G-C-G혹G-T-A단배형이급A-C-G단배형여자외선폭로적교호작용가능여중국장강이남한족인군계통성홍반랑창적유전역감성상관.
Objective To investigate the relationship of gene polymorphisms of programmed cell death 1 gene (PDCD1) and ultraviolet history with systemic lupus erythematosus (SLE) among the Han population in the southern region of yangtze river in China. Methods With a case-control design, a total of 159 SLE cases and 159 controls were enrolled in this study, and single nucleotide polymorphisms (SNPs) of the PDCD1 gene were determined by PCR-restrition fragment length polymorphism(RFLP). With the aid of the logistic regression model, the effect of gene polymorphism, environmental factor and the interaction between gene and environment were fitted under the recessive, dominant, additive and codominant mode,respectively. Results Three models were screened as the optimal models under the additive mode and one model under the dominant mode, according to the lowest value of Akaike's Information Criteria (AIC).After the control of age and gender, it was found that the frequency of ultraviolet exposure was higher in cases than in controls with significant difference under all models (P＜0.05). For the haplotypes composed of the alleles of PD1.2, PD1.5 and PD1.6, there was significantly higher frequency of G-T-A haplotype (0. 1196 vs 0.0363) and lower frequency of A-C-A haplotype (0.4746 vs 0.5399) in cases than that in controls (P＜0.05) under the additive mode, and the G-T-A haplotype was associated with an increased risk for SLE (OR=4.319), while A-C-A haplotype was shown as a protective factor for SLE (OR=0.571).Moreover, interaction between A-C-G haplotype and ultraviolet exposure, which was related to an increased risk for SLE (β5 =1.182, Z=2.2898, P＜0.05, OR=3.261), was also found under this mode.Additionally, the frequency of G-C-G haplotype was higher in cases than that in controls (0.1287 vs 0.0361) under the dominant mode with statistically significant difference (P ＜0.05, OR=4.332).Conclusion Authors' results indicate that ultraviolet exposure, G-T-A or G-C-G haplotype and interaction between A-C-G and ultraviolet exposure may be associated with genetic susceptibility to SLE in Han population in the southern region of yangtze river in China under certain genetic modes.