中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
4期
433-436
,共4页
蓝艳%唐秀生%覃俊%武洁%覃集敏
藍豔%唐秀生%覃俊%武潔%覃集敏
람염%당수생%담준%무길%담집민
系统性红斑狼疮%基因多态性%转录因子FOXP3基因
繫統性紅斑狼瘡%基因多態性%轉錄因子FOXP3基因
계통성홍반랑창%기인다태성%전록인자FOXP3기인
systematic lupus erythematosus%gene polymorphism%transcription factor FOXP3 gene
目的 探讨转录因子FOXP3基因单核苷酸多态性与广西壮族系统性红斑狼疮(systematic lupus erythematosus,SLE)易感性之间的关系.方法 以120例SLE患者和160名健康对照者为研究对象,应用聚合酶链反应-限制性片段长度多态性和DNA测序的方法对FOXP3基因-2383 C/T、-3281 C/A单核苷酸多态性进行基因分型.结果 FOXP3基因-3281 C/A多态性在SLE组和正常人群中的分布差异无统计学意义(P＞0.05),而FOXP3基因-2383 C/T多态性在两组人群中的分布差异有统计学意义(P＜0.05),等位基因频率的相对风险分析发现,-2383 T等位基因携带者患系统性红斑狼疮的风险是-2383 C等位基因的1.715倍(OR=1.715,95%CI:1.165～2.525).联合基因型分析发现,FOXP3的-2383 T/-3281 A等位基因频率在SLE组中显著高于对照组(P＜0.05),-2383 T/-3281 A等位基因携带者显著增加了SLE的发病风险(OR=2.196,95%CI:1.165～4.142).结论 FOXP3基因-2383 C/T多态性与SLE的发病具有相关性,其中-2383 T等位基因可能是SLE的遗传易感基因.
目的 探討轉錄因子FOXP3基因單覈苷痠多態性與廣西壯族繫統性紅斑狼瘡(systematic lupus erythematosus,SLE)易感性之間的關繫.方法 以120例SLE患者和160名健康對照者為研究對象,應用聚閤酶鏈反應-限製性片段長度多態性和DNA測序的方法對FOXP3基因-2383 C/T、-3281 C/A單覈苷痠多態性進行基因分型.結果 FOXP3基因-3281 C/A多態性在SLE組和正常人群中的分佈差異無統計學意義(P＞0.05),而FOXP3基因-2383 C/T多態性在兩組人群中的分佈差異有統計學意義(P＜0.05),等位基因頻率的相對風險分析髮現,-2383 T等位基因攜帶者患繫統性紅斑狼瘡的風險是-2383 C等位基因的1.715倍(OR=1.715,95%CI:1.165～2.525).聯閤基因型分析髮現,FOXP3的-2383 T/-3281 A等位基因頻率在SLE組中顯著高于對照組(P＜0.05),-2383 T/-3281 A等位基因攜帶者顯著增加瞭SLE的髮病風險(OR=2.196,95%CI:1.165～4.142).結論 FOXP3基因-2383 C/T多態性與SLE的髮病具有相關性,其中-2383 T等位基因可能是SLE的遺傳易感基因.
목적 탐토전록인자FOXP3기인단핵감산다태성여엄서장족계통성홍반랑창(systematic lupus erythematosus,SLE)역감성지간적관계.방법 이120례SLE환자화160명건강대조자위연구대상,응용취합매련반응-한제성편단장도다태성화DNA측서적방법대FOXP3기인-2383 C/T、-3281 C/A단핵감산다태성진행기인분형.결과 FOXP3기인-3281 C/A다태성재SLE조화정상인군중적분포차이무통계학의의(P＞0.05),이FOXP3기인-2383 C/T다태성재량조인군중적분포차이유통계학의의(P＜0.05),등위기인빈솔적상대풍험분석발현,-2383 T등위기인휴대자환계통성홍반랑창적풍험시-2383 C등위기인적1.715배(OR=1.715,95%CI:1.165～2.525).연합기인형분석발현,FOXP3적-2383 T/-3281 A등위기인빈솔재SLE조중현저고우대조조(P＜0.05),-2383 T/-3281 A등위기인휴대자현저증가료SLE적발병풍험(OR=2.196,95%CI:1.165～4.142).결론 FOXP3기인-2383 C/T다태성여SLE적발병구유상관성,기중-2383 T등위기인가능시SLE적유전역감기인.
Objective To investigate the association of single nucleotide polymorphisms(SNP) of FOXP3 gene with susceptibility to systematic lupus erythematosus (SLE) in Chinese Zhuang population.Methods Author analyzed the -2383 C/T and -3281 C/A two SNPs of the FOXP3 gene promoter in 120 patients with SLE and 160 age and sex matched controls in a Chinese Zhuang population, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing.Results The distribution of the FOXP3 gene -3281 C/A polymorphism was not different between the two groups. However, the FOXP3 gene -2383 C/T polymorphism was significantly different (P＜ 0.05)between the two groups. The relative risk of suffering from SLE of -2383T allele carriers was 1.715 times of the -2383C allele carriers (OR= 1. 715,95% CI: 1.165-2. 525). Consistent with the results of the genotyping analyses, the FOXP3 -2383T/-3281A haplotype frequency in patients with SLE was significantly higher than that in controls (P＜0.05). The -2383T/-3281A allele was associated with a significantly increased risk of SLE (OR = 2.196, 95% CI: 1. 165-4. 142 ). Conclusion The FOXP3 gene -2383C/T polymorphism is associated with SLE, and the - 2383T allele is risk factor for SLE in the population studied.
