Association Study Between Mitochondrial Dna Polymorphisms And Risk Of Age-related Macular Degeneration

Abstract

Purpose: : The objective of the study was to analyze the relationship between polymorphisms of the mitochondrial genome and age macular degeneration (AMD) through a case control study in a large French series.

Methods: : Based on a candidate gene approach, we analyzed several polymorphisms of the mitochondrial genome: 4917G, 11812G (which both define the mitochondrial T2 haplogroup) and 14470 (T/C/A) in a French series of 1224 patients with neovascular AMD and 559 controls. CFH and ARMS2 genotypes had previously been performed. Patients’ genotypes were determined by PCR/sequencing.

Results: : No association was found between the T2 haplogroup and AMD in this European cohort (adjusted OR = 0.9 [0.5 - 1.5]). An association was found with 14470 when analyzing crude OR: patients having 14470 C or 14470A had a decreased risk of having neovascular AMD; however this association disappeared when OR were adjusted on age, sex, tobacco, CFH and ARMS2 status because patients having these genotypes were younger than patients having the 14470T genotype, particularly in controls.

Conclusions: : Association between AMD and T2 haplogroup, previously described in North American populations, was not found in our French series. 14470 polymorphism, clearly linked with age in controls, could be associated with longevity.

Keywords: age-related macular degeneration • genetics • mitochondria