中华实验眼科杂志
中華實驗眼科雜誌
중화실험안과잡지
CHINESE JOURNAL OF EXPERIMENTAL OPHTHALMOLOGY
2013年
9期
863-866
,共4页
梁思颖%黄丽娜%应方微%何靖%温腾亮
樑思穎%黃麗娜%應方微%何靖%溫騰亮
량사영%황려나%응방미%하정%온등량
原发性开角型青光眼%基因多态性%视神经病变诱导反应蛋白基因
原髮性開角型青光眼%基因多態性%視神經病變誘導反應蛋白基因
원발성개각형청광안%기인다태성%시신경병변유도반응단백기인
Primary open angle glaucoma%Gene polymorphism%Optineurin gene
背景 原发性开角型青光眼(POAG)是常见的青光眼类型,其致病因素虽然很多,但遗传因素起重要作用.视神经病变诱导反应蛋白(OPTN)基因是第2个被确认的POAG致病基因,在人群中进行OPTN基因的突变筛查,有助于对POAG的发病机制有更深入的了解.目的 研究中国POAG与OPTN基因多态性的关系.方法 本研究为前瞻性病例对照研究.对100例POAG患者和60例白内障对照者的外周血进行DNA提取,用PCR法扩增OPTN基因的13对编码外显子后,对PCR产物进行直接测序,并将测序结果与基因库中OPTN的原始序列(GenBank)进行对比分析.结果 100例POAG患者的平均眼压为(29.0±6.5)mmHg(1 mmHg=0.133 kPa),对照组单纯白内障患者60例的平均眼压为(13.7±2.4) mmHg.POAG患者中,60例患者存在T34T同义序列改变,POAG患者AA基因型频率为10％,GA为50％,GG为40％；单纯白内障对照组的AA基因型频率分别为0,GA为25％,GG为75％,2个组患者间的差异有统计学意义(x2=20.416,P=0.000)；POAG患者的等位基因A的频率为35％,G为65％；白内障患者等位基因A为12.5％,G为87.5％,差异有统计学意义(x2=19.464,P=0.000).POAG患者与白内障对照者中均发现M98K、691-692insAG、R545Q、H486R等基因序列改变,但是2个组间基因型和等位基因频率的差异均无统计学意义(P＞0.05).结论 OPTN基因多态性与POAG的发病无明显关系,T34T同义改变可能增加POAG的易感性.
揹景 原髮性開角型青光眼(POAG)是常見的青光眼類型,其緻病因素雖然很多,但遺傳因素起重要作用.視神經病變誘導反應蛋白(OPTN)基因是第2箇被確認的POAG緻病基因,在人群中進行OPTN基因的突變篩查,有助于對POAG的髮病機製有更深入的瞭解.目的 研究中國POAG與OPTN基因多態性的關繫.方法 本研究為前瞻性病例對照研究.對100例POAG患者和60例白內障對照者的外週血進行DNA提取,用PCR法擴增OPTN基因的13對編碼外顯子後,對PCR產物進行直接測序,併將測序結果與基因庫中OPTN的原始序列(GenBank)進行對比分析.結果 100例POAG患者的平均眼壓為(29.0±6.5)mmHg(1 mmHg=0.133 kPa),對照組單純白內障患者60例的平均眼壓為(13.7±2.4) mmHg.POAG患者中,60例患者存在T34T同義序列改變,POAG患者AA基因型頻率為10％,GA為50％,GG為40％；單純白內障對照組的AA基因型頻率分彆為0,GA為25％,GG為75％,2箇組患者間的差異有統計學意義(x2=20.416,P=0.000)；POAG患者的等位基因A的頻率為35％,G為65％；白內障患者等位基因A為12.5％,G為87.5％,差異有統計學意義(x2=19.464,P=0.000).POAG患者與白內障對照者中均髮現M98K、691-692insAG、R545Q、H486R等基因序列改變,但是2箇組間基因型和等位基因頻率的差異均無統計學意義(P＞0.05).結論 OPTN基因多態性與POAG的髮病無明顯關繫,T34T同義改變可能增加POAG的易感性.
배경 원발성개각형청광안(POAG)시상견적청광안류형,기치병인소수연흔다,단유전인소기중요작용.시신경병변유도반응단백(OPTN)기인시제2개피학인적POAG치병기인,재인군중진행OPTN기인적돌변사사,유조우대POAG적발병궤제유경심입적료해.목적 연구중국POAG여OPTN기인다태성적관계.방법 본연구위전첨성병례대조연구.대100례POAG환자화60례백내장대조자적외주혈진행DNA제취,용PCR법확증OPTN기인적13대편마외현자후,대PCR산물진행직접측서,병장측서결과여기인고중OPTN적원시서렬(GenBank)진행대비분석.결과 100례POAG환자적평균안압위(29.0±6.5)mmHg(1 mmHg=0.133 kPa),대조조단순백내장환자60례적평균안압위(13.7±2.4) mmHg.POAG환자중,60례환자존재T34T동의서렬개변,POAG환자AA기인형빈솔위10％,GA위50％,GG위40％；단순백내장대조조적AA기인형빈솔분별위0,GA위25％,GG위75％,2개조환자간적차이유통계학의의(x2=20.416,P=0.000)；POAG환자적등위기인A적빈솔위35％,G위65％；백내장환자등위기인A위12.5％,G위87.5％,차이유통계학의의(x2=19.464,P=0.000).POAG환자여백내장대조자중균발현M98K、691-692insAG、R545Q、H486R등기인서렬개변,단시2개조간기인형화등위기인빈솔적차이균무통계학의의(P＞0.05).결론 OPTN기인다태성여POAG적발병무명현관계,T34T동의개변가능증가POAG적역감성.
Background Primary open angle glaucoma(POAG) is a common type of glaucoma.It has been well known that a lot of factors are associated with the pathogenesis of POAG,but genetic factor plays a critical role.Optineurin (OPTN)gene is the second confirmed POAG-relevant gene,and screening its mutation in the population contribute to the deeply understanding of the pathogenesis of POAG.Objective The present study was to investigate the association between sequence variants of OPTN gene and POAG in Chinese patients.Methods DNA was isolated from peripheral blood of 100 POAG patients and 60 cataract individuals.The coding exons of OPTN gene were amplified by PCR.PCR products were then sequenced directly to assay the variants and contrasted to original sequence in GenBank.This study was approved by the Ethical Committee of Shenzhen Eye Hospital.All the subjects signed the written inform consent.Results A case-controlled study was designed.The mean intraocular pressure (IOP)of the POAG patients was (29.0±6.5)mmHg,and that of the cataract patients was (13.7 ±2.4)mmHg.Variant of synonymous coding T34T was found in 60 POAG patients.Genetic type frequencies of AA,GA and GG were 10％,50％ and 40％ in the POAG patients,and those of cataract patients were 0,25％ and 75％ respectively,showing significant difference between them (x2 =20.416,P =0.000).The allele frequencies of A and G were 35％ and 65％ in the POAG patients,and those of cataract patients were 12.5％ and 87.5％,with a statistically significant difference (x2 ＝ 19.464,P =0.000).The sequence changes of non-synonymous coding variants (M98K,691-692insA G,R545Q,H486R) were also found in both POAG and cataract patients,but no significant difference was seen in the genetype and allele frequencies between two groups (P＞0.05).Conclusions No obvious association of OPTN gene variant with POAG is verified.The variant of T34T maybe increase the risk of POAG.
