年龄相关性黄斑变性的双生子研究。
Twin study of age-related macular degeneration.
作者信息
Grizzard Sanderson W, Arnett Donna, Haag Scott L
机构信息
Retina Associates of Florida, Tampa, Florida 33609-4614, USA.
出版信息
Ophthalmic Epidemiol. 2003 Dec;10(5):315-22. doi: 10.1076/opep.10.5.315.17317.
PURPOSE
To evaluate the genetic contribution in age-related macular degeneration (ARMD) by a disease-ascertained twin study.
METHODS
Concordance rates for ARMD in 25 twins were obtained by using four masked graders to confirm the diagnosis of ARMD and place subjects in one of three categories; concordant, intermediate, or discordant. Demographic features and known risk factors for ARMD were compared between monozygotic and dizygotic twin pairs.
RESULTS
Of the 25 twin pairs, 15 were monzygotic and 10 were dizygotic. All 15 monozygotic twins were concordant or intermediate for ARMD. Of the dizygotic twin pairs, only one was concordant and five were discordant. In the demographic and risk factor analysis no unusual contributing or confounding variables were detected.
CONCLUSIONS
The association between zygosity and concordance for ARMD suggests a major importance for genetics in the etiology of ARMD. Our data further support a multi-factorial, primarily polygenic etiology for the condition.
目的
通过疾病确诊的双胞胎研究评估年龄相关性黄斑变性（ARMD）的遗传贡献。
方法
通过使用四名盲态分级员来确诊ARMD并将受试者分为三类之一（一致、中间或不一致），从而获得25对双胞胎中ARMD的一致率。比较同卵双胞胎和异卵双胞胎对之间的人口统计学特征和已知的ARMD危险因素。
结果
在25对双胞胎中，15对是同卵双胞胎，10对是异卵双胞胎。所有15对同卵双胞胎在ARMD方面都是一致或中间状态。在异卵双胞胎对中，只有一对一致，五对不一致。在人口统计学和危险因素分析中，未检测到异常的促成或混杂变量。
结论
合子性与ARMD一致性之间的关联表明遗传学在ARMD病因中具有重要意义。我们的数据进一步支持了该病的多因素、主要是多基因病因。
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