中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
4期
434-437
,共4页
LAN Yan%韦叶生%唐秀生%QIN Jun%武洁%覃集敏
LAN Yan%韋葉生%唐秀生%QIN Jun%武潔%覃集敏
LAN Yan%위협생%당수생%QIN Jun%무길%담집민
白细胞介素-18%系统性红斑狼疮%单核苷酸多态性
白細胞介素-18%繫統性紅斑狼瘡%單覈苷痠多態性
백세포개소-18%계통성홍반랑창%단핵감산다태성
interleukin-18%systematic lupus erythematosus%single nucleotide polymorphism
目的 探讨白细胞介素-18(interleukin 18,IL-18)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115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IL-18基因-137G/C、-607C/A单核苷酸多态性进行基因分型.结果 IL-18基因-137G/C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IL-18基因-607C/A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,-607 C等位基因携带者患系统性红斑狼疮的风险是-607A等位基因的1.619倍(OR=1.619,95%CI:1.150-2.281).联合基因型分析发现,IL-18的-137G/-607C等位基因频率在SLE组中显著高于对照组(P<0.05).-137G/-607C等位基因携带者显著增加了SLE的发病风险(OR=1.484,95%CI:1.056-2.087).结论 IL-18基因-607C/A多态性与SLE的发病具有相关性,其中-607 C等位基因可能是SLE的遗传易感基因.
目的 探討白細胞介素-18(interleukin 18,IL-18)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115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IL-18基因-137G/C、-607C/A單覈苷痠多態性進行基因分型.結果 IL-18基因-137G/C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IL-18基因-607C/A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,-607 C等位基因攜帶者患繫統性紅斑狼瘡的風險是-607A等位基因的1.619倍(OR=1.619,95%CI:1.150-2.281).聯閤基因型分析髮現,IL-18的-137G/-607C等位基因頻率在SLE組中顯著高于對照組(P<0.05).-137G/-607C等位基因攜帶者顯著增加瞭SLE的髮病風險(OR=1.484,95%CI:1.056-2.087).結論 IL-18基因-607C/A多態性與SLE的髮病具有相關性,其中-607 C等位基因可能是SLE的遺傳易感基因.
목적 탐토백세포개소-18(interleukin 18,IL-18)기인단핵감산다태성여엄서장족계통성홍반랑창(systematic lupus erythematosus,SLE)역감성지간적관계.방법 이115례SLE환자화160명건강대조자위연구대상,응용취합매련반응-한제성편단장도다태성화DNA측서적방법대IL-18기인-137G/C、-607C/A단핵감산다태성진행기인분형.결과 IL-18기인-137G/C다태성재SLE조화정상인군중적분포차이무통계학의의(P>0.05),이IL-18기인-607C/A다태성재량조인군중적분포차이유통계학의의(P<0.05),등위기인빈솔적상대풍험분석발현,-607 C등위기인휴대자환계통성홍반랑창적풍험시-607A등위기인적1.619배(OR=1.619,95%CI:1.150-2.281).연합기인형분석발현,IL-18적-137G/-607C등위기인빈솔재SLE조중현저고우대조조(P<0.05).-137G/-607C등위기인휴대자현저증가료SLE적발병풍험(OR=1.484,95%CI:1.056-2.087).결론 IL-18기인-607C/A다태성여SLE적발병구유상관성,기중-607 C등위기인가능시SLE적유전역감기인.
Objective To investigate the association of the single nucleotide polymorphisms of interleukin-18 (IL-18)gene with the susceptibility to systematic lupus erythematosus(SLE)in a Chinese Zhuang population.Methods Two single nucleotide polymorohisms of the IL-18 gene promoter were analyzed,namely-137G/C and-607C/A,in 115 patients with SLE and 160 age and sex-matched controls in a Chinese Zhuang population,using a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)strategy and DNA sequencing.Results The IL-18 gene -607C/A polymorphism was significantly different between the SLE and corarol group(P<0.05).The relative risk of SLE for-607C allele carrier was 1.619 times of the-607A allele carriers(OR=1.619,95%CI:1.150-2.281). Consistent with the results of the genotyping analyses,IL-18-137G/-607C allele frequencies in patients with SLE was significant higher than that in controls(P<0.05).The-137G/-607C allele was associated with a significantly in-creased risk of SLE(OR=1.484,95%CI.056-2.087).However,there was no difference of teh distributions of the -137G/C polymorphism of the IL-18 gene between the SLE and control groups.Conclusion IL-18 gene-607C/A polymorphism was associated with SIE.the-607C allele may be a risk factor for SLE.