中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
2期
228-232
,共5页
陈婷婷%林俊%晋松%马莎%于亮%黄铠%黄小琴%褚嘉祜%杨昭庆
陳婷婷%林俊%晉鬆%馬莎%于亮%黃鎧%黃小琴%褚嘉祜%楊昭慶
진정정%림준%진송%마사%우량%황개%황소금%저가호%양소경
HLA-G基因%系统性红斑狼疮%关联分析%多态性
HLA-G基因%繫統性紅斑狼瘡%關聯分析%多態性
HLA-G기인%계통성홍반랑창%관련분석%다태성
HLA-G gene%Systemic lupus erythematosus%Association analysis%Polymorphism
目的 探讨云南地区人群系统性红斑狼疮(systemic lupus erythematosus,SLE)与HLA-G基因3'非翻译区(3' untranslated region,3'UTR)3个位点(+2960 14 bp插入/缺失、+3035C/T和+3142C/G)多态性的关联性.方法 应用DNA序列测序法对云南地区206例SLE患者及212名健康对照者的HLA-G基因上述3个多态性位点进行基因分型.结果 HLA-G 3'UTR区14 bp插入/缺失和+3142C/G等位基因和基因型频率在SLE组和对照组间的差异均无统计学意义(P＞0.05),+3035T等位基因在SLE组的频率显著高于对照组,差异有统计学意义(P=0.002,OR=1.604,95％CI:1.186～2.169).在显性遗传模式下,SLE组中(CT+TT)的OR值为2.004 (95％CI:1.345～2.987,P=0.0006).结论 HLA-G 14 bp插入/缺失和+3142C/G多态性与云南地区人群SLE易感性无显著相关性,而+3035C/T多态性与云南地区系统性红斑狼疮易感性相关,+3035T等位基因可能是云南地区SLE发生的危险因素.
目的 探討雲南地區人群繫統性紅斑狼瘡(systemic lupus erythematosus,SLE)與HLA-G基因3'非翻譯區(3' untranslated region,3'UTR)3箇位點(+2960 14 bp插入/缺失、+3035C/T和+3142C/G)多態性的關聯性.方法 應用DNA序列測序法對雲南地區206例SLE患者及212名健康對照者的HLA-G基因上述3箇多態性位點進行基因分型.結果 HLA-G 3'UTR區14 bp插入/缺失和+3142C/G等位基因和基因型頻率在SLE組和對照組間的差異均無統計學意義(P＞0.05),+3035T等位基因在SLE組的頻率顯著高于對照組,差異有統計學意義(P=0.002,OR=1.604,95％CI:1.186～2.169).在顯性遺傳模式下,SLE組中(CT+TT)的OR值為2.004 (95％CI:1.345～2.987,P=0.0006).結論 HLA-G 14 bp插入/缺失和+3142C/G多態性與雲南地區人群SLE易感性無顯著相關性,而+3035C/T多態性與雲南地區繫統性紅斑狼瘡易感性相關,+3035T等位基因可能是雲南地區SLE髮生的危險因素.
목적 탐토운남지구인군계통성홍반랑창(systemic lupus erythematosus,SLE)여HLA-G기인3'비번역구(3' untranslated region,3'UTR)3개위점(+2960 14 bp삽입/결실、+3035C/T화+3142C/G)다태성적관련성.방법 응용DNA서렬측서법대운남지구206례SLE환자급212명건강대조자적HLA-G기인상술3개다태성위점진행기인분형.결과 HLA-G 3'UTR구14 bp삽입/결실화+3142C/G등위기인화기인형빈솔재SLE조화대조조간적차이균무통계학의의(P＞0.05),+3035T등위기인재SLE조적빈솔현저고우대조조,차이유통계학의의(P=0.002,OR=1.604,95％CI:1.186～2.169).재현성유전모식하,SLE조중(CT+TT)적OR치위2.004 (95％CI:1.345～2.987,P=0.0006).결론 HLA-G 14 bp삽입/결실화+3142C/G다태성여운남지구인군SLE역감성무현저상관성,이+3035C/T다태성여운남지구계통성홍반랑창역감성상관,+3035T등위기인가능시운남지구SLE발생적위험인소.
Objective To assess the association of three polymorphisms (14-bpINS/DEL,+3035C/ T and + 3142C/G) in the 3' untranslated region (3' UTR) of HLA-G gene and systemic lupus erythematosus (SLE) in Yunnan.Methods A case-control study has been carried out on 206 SLE patients and 212 healthy controls.Genotypes of 14-bpINS/DEL (rs1704),+3035C/T (rs17179108) and +3142C/ G (rs1063320) loci of 3'UTR of the HLA-G gene were determined with DNA sequencing.Results Allelic and genotypic frequencies of 14-bpINS/DEL and + 3142C/G did not differ significantly between the two groups (P＞0.05).The frequencies of +3035T allele was significantly higher in the SLE group compared with the control group (P ＜ 0.01,OR =1.604,95％ CI:1.186-2.169).With a dominant inheritance model,the odd ratio of dominant genotype (CT+TT) was 2.004 (95％CI:1.345-2.987,P=0.0006) in the SLE group.Conclusion The 14-bpINS/DEL and + 3142C/G polymorphisms in the 3' UTR of the HLA-G gene are not associated with susceptibility to SLE in Yunnan,whilst the T allele of +3035C/T may be a risk factor for SLE.
