Jones Michael M, Manwaring Neil, Wang Jie Jin, Rochtchina Elena, Mitchell Paul, Sue Carolyn M
Department of Neurogenetics, University of Sydney, Australia.
Arch Ophthalmol. 2007 Sep;125(9):1235-40. doi: 10.1001/archopht.125.9.1235.
To investigate whether mitochondrial haplogroups are associated with age-related maculopathy (ARM).
We assessed the association between mitochondrial haplogroups and ARM in a population-based sample of 3509 persons aged 49 years or older residing west of Sydney. Retinal photographs of both eyes were taken (1999-2001) and subsequently graded for ARM following the Wisconsin grading system. Genetic analysis for mitochondrial DNA haplogroups was performed. Associations between these genetic markers and risk factors for ARM were assessed.
After adjusting for age, sex, and smoking, haplogroup H was associated with a reduced prevalence of any (early and late) ARM (odds ratio [OR], 0.75; 95% confidence interval [CI], 0.58-0.97), early ARM (OR, 0.75; 95% CI, 0.57-0.98), and large distinct and indistinct soft drusen (OR, 0.70; 95% CI, 0.56-0.89). Haplogroup J was associated with a higher prevalence of large, soft distinct drusen (OR, 1.80; 95% CI, 1.18-2.73). Haplogroup U was associated with an increased prevalence of retinal pigment abnormalities (OR, 1.45; 95% CI, 1.11-1.91).
Our findings of associations between different haplogroup types and prevalent ARM or ARM lesions suggest that these haplogroups may be genetic markers indicative of an individual's susceptibility to ARM.
研究线粒体单倍群是否与年龄相关性黄斑病变（ARM）相关。
我们在悉尼西部居住的3509名49岁及以上人群的基于人群的样本中评估了线粒体单倍群与ARM之间的关联。采集了双眼的视网膜照片（1999 - 2001年），随后按照威斯康星分级系统对ARM进行分级。进行了线粒体DNA单倍群的基因分析。评估了这些遗传标记与ARM危险因素之间的关联。
在调整年龄、性别和吸烟因素后，单倍群H与任何（早期和晚期）ARM的患病率降低相关（优势比[OR]，$0.75$；95%置信区间[CI]，$0.58 - 0.97$），早期ARM（OR，$0.75$；95% CI，$0.57 - 0.98$），以及大的、明显和不明显的软性玻璃膜疣（OR，$0.70$；95% CI，$0.56 - 0.89$）。单倍群J与大的、明显的软性玻璃膜疣的较高患病率相关（OR，$1.80$；95% CI，$1.18 - 2.73$）。单倍群U与视网膜色素异常的患病率增加相关（OR，$1.45$；95% CI，$1.11 - 1.91$）。
我们关于不同单倍群类型与现患ARM或ARM病变之间关联的研究结果表明，这些单倍群可能是个体对ARM易感性的遗传标记。
