新生血管性年龄相关性黄斑变性中线粒体多态性的遗传关联研究。
Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration.
作者信息
Tilleul Julien, Richard Florence, Puche Nathalie, Zerbib Jennyfer, Leveziel Nicolas, Sahel Jose Alain, Cohen Salomon Yves, Korobelnik Jean-Francois, Feingold Josue, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel, Souied Eric H
机构信息
Department of Ophthalmology, Hôpital Intercommunal de Creteil, University of Paris Est Creteil, France.
出版信息
Mol Vis. 2013 May 29;19:1132-40. Print 2013.
PURPOSE
Age-related macular degeneration (AMD) is a multifactorial disease involving genetic and environmental factors. Most of the genetic factors identified so far involve the nuclear genome. Recently, two studies in North America and Australia reported an association between advanced AMD and the mitochondrial T2 haplogroup. Our purpose was to assess this association in a large French population.
METHODS
This case control study included 1,224 patients with neovascular AMD and 559 controls with normal fundus. Mitochondrial DNA polymorphisms at and around nucleotides 4917, 11,812, and 14,233 were determined using PCR amplification and direct sequencing of mitochondrial DNA.
RESULTS
No association was found between the mitochondrial T2 haplogroup and neovascular AMD in the French population: 94/1,152 patients with neovascular AMD had the T2 haplogroup (8.2%) versus 34/482 controls (7.1%; odds ratio=0.9 [0.5-1.5], p=0.66).
CONCLUSIONS
An association between AMD and the T2 haplogroup, previously described in North American and Australian populations, was not confirmed in a large French population.
目的
年龄相关性黄斑变性（AMD）是一种涉及遗传和环境因素的多因素疾病。迄今为止确定的大多数遗传因素都涉及核基因组。最近，北美和澳大利亚的两项研究报告了晚期AMD与线粒体T2单倍群之间的关联。我们的目的是在一大群法国人群中评估这种关联。
方法
这项病例对照研究纳入了1224例新生血管性AMD患者和559例眼底正常的对照者。使用线粒体DNA的PCR扩增和直接测序来确定核苷酸4917、11812和14233及其周围的线粒体DNA多态性。
结果
在法国人群中，未发现线粒体T2单倍群与新生血管性AMD之间存在关联：1152例新生血管性AMD患者中有94例具有T2单倍群（8.2%），而482例对照者中有34例（7.1%）；优势比=0.9[0.5-1.5]，p=0.66。
结论
先前在北美和澳大利亚人群中描述的AMD与T2单倍群之间的关联，在一大群法国人群中未得到证实。
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