中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2014年
2期
126-132
,共7页
玛依努%谢婷玉%朱国伟%陈雪艺
瑪依努%謝婷玉%硃國偉%陳雪藝
마의노%사정옥%주국위%진설예
虹膜色素剥脱综合征%氨基酸氧化还原酶类%多态性,单核苷酸%疾病遗传易感性
虹膜色素剝脫綜閤徵%氨基痠氧化還原酶類%多態性,單覈苷痠%疾病遺傳易感性
홍막색소박탈종합정%안기산양화환원매류%다태성,단핵감산%질병유전역감성
Exfoliation syndrome%Amino acid oxidoreductases%Polymorphism,single nucleotide%Genetic predisposition to disease
目的 探索新疆维吾尔族人群中LOXL1基因多态性与剥脱综合征(XFS)的相关性.方法 病例对照研究.研究对象共191例,分为病例组(64例XFS患者和7例XFS合并青光眼患者)和对照组(127例).对照组为来白同一地区,经相同的眼科检查确诊无XFS样表现的病例,多数患有白内障或眼表疾病.以聚合酶链反应直接测序的方法分析LOXL1基因rsl048661,rs2165241和rs3825942的基因型和等位基因频数,采用x2检验比较各基因型和等位基因在病例组、对照组间的分布频率差异以及用Haploview4.1软件进行Hardy-Weinberg遗传平衡定律的吻合度检验;计量资料以均数±标准差((x)±s)表示,相对危险度采用比值比(OR)和95％置信区间(CI)表示,根据各自的相对危险度即OR值(95％置信区间)分析判断LOXL1基因多态性与XFS的关联性.结果 rs2165241:基因型TT是危险因素[x2 =4.27,P=0.039;OR值为2.20(1.04 ～4.65)],等位基因T是危险因素[x2=37.89,P=0.000;OR值为3.98(2.54 ～6.25)];rs1048661:等位基因G是危险因素[x2=6.22,P=0.013;OR值为1.92(1.14 ～3.22)];rs3825942:等位基因G是危险因素[x2=14.73,P=0.000;OR值为4.86(2.02 ～ 11.68)].结论 新疆维吾尔族人群LOXL1基因rs2165241、rs1 04 8661和rs3825942基因型及等位基因分析显示与新疆维吾尔族XFS患者遗传易感性有关联,且每个多态位点均呈现明显较强的相关性.
目的 探索新疆維吾爾族人群中LOXL1基因多態性與剝脫綜閤徵(XFS)的相關性.方法 病例對照研究.研究對象共191例,分為病例組(64例XFS患者和7例XFS閤併青光眼患者)和對照組(127例).對照組為來白同一地區,經相同的眼科檢查確診無XFS樣錶現的病例,多數患有白內障或眼錶疾病.以聚閤酶鏈反應直接測序的方法分析LOXL1基因rsl048661,rs2165241和rs3825942的基因型和等位基因頻數,採用x2檢驗比較各基因型和等位基因在病例組、對照組間的分佈頻率差異以及用Haploview4.1軟件進行Hardy-Weinberg遺傳平衡定律的吻閤度檢驗;計量資料以均數±標準差((x)±s)錶示,相對危險度採用比值比(OR)和95％置信區間(CI)錶示,根據各自的相對危險度即OR值(95％置信區間)分析判斷LOXL1基因多態性與XFS的關聯性.結果 rs2165241:基因型TT是危險因素[x2 =4.27,P=0.039;OR值為2.20(1.04 ～4.65)],等位基因T是危險因素[x2=37.89,P=0.000;OR值為3.98(2.54 ～6.25)];rs1048661:等位基因G是危險因素[x2=6.22,P=0.013;OR值為1.92(1.14 ～3.22)];rs3825942:等位基因G是危險因素[x2=14.73,P=0.000;OR值為4.86(2.02 ～ 11.68)].結論 新疆維吾爾族人群LOXL1基因rs2165241、rs1 04 8661和rs3825942基因型及等位基因分析顯示與新疆維吾爾族XFS患者遺傳易感性有關聯,且每箇多態位點均呈現明顯較彊的相關性.
목적 탐색신강유오이족인군중LOXL1기인다태성여박탈종합정(XFS)적상관성.방법 병례대조연구.연구대상공191례,분위병례조(64례XFS환자화7례XFS합병청광안환자)화대조조(127례).대조조위래백동일지구,경상동적안과검사학진무XFS양표현적병례,다수환유백내장혹안표질병.이취합매련반응직접측서적방법분석LOXL1기인rsl048661,rs2165241화rs3825942적기인형화등위기인빈수,채용x2검험비교각기인형화등위기인재병례조、대조조간적분포빈솔차이이급용Haploview4.1연건진행Hardy-Weinberg유전평형정률적문합도검험;계량자료이균수±표준차((x)±s)표시,상대위험도채용비치비(OR)화95％치신구간(CI)표시,근거각자적상대위험도즉OR치(95％치신구간)분석판단LOXL1기인다태성여XFS적관련성.결과 rs2165241:기인형TT시위험인소[x2 =4.27,P=0.039;OR치위2.20(1.04 ～4.65)],등위기인T시위험인소[x2=37.89,P=0.000;OR치위3.98(2.54 ～6.25)];rs1048661:등위기인G시위험인소[x2=6.22,P=0.013;OR치위1.92(1.14 ～3.22)];rs3825942:등위기인G시위험인소[x2=14.73,P=0.000;OR치위4.86(2.02 ～ 11.68)].결론 신강유오이족인군LOXL1기인rs2165241、rs1 04 8661화rs3825942기인형급등위기인분석현시여신강유오이족XFS환자유전역감성유관련,차매개다태위점균정현명현교강적상관성.
Objective In this study,we evaluate the association profiles of the lysyl oxidase-like 1 (LOXLI) gene polymorphisms with exfoliation syndrome in XFS Uygur population.Methods Case-control study.Sixty-four unrelated Uygur patients with XFS (including 7 patients with Exfoliation Syndrome Glaucoma) and 127 Uygur control subjects were included.All of control subjects were selected from the same area,passed through the same ophthalmic checks and confirmed without any expressions of XFS.Most of them suffered from cataract and other ophthalmic disease.Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661,rs2165241 and rs3825942) were analyzed by direct sequencing following PCR amplification,and a case-control association study was performed and judged by odd ratio (OR) with (95％ confidential interval).Results G allele of rs1048661 [OR:1.92 (1.14-3.22)],G of rs3825942 [OR:4.86 (2.02-11.68)],and T of rs2165241 [OR:3.98 (2.54-6.25)] were risk alleles for the disorder.The genotypes TT for rs2165241 [OR:2.20 (1.04-4.65)] were risk genotypes for the disease.Conclusion LOXL1 is a susceptibility gene of XFS in the Uygur populations.The risk alleles of rs1048661,rs3825942 and rs2165241 in Uygur subjects were identified to be significantly associated with XFS individually.
