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M. C. Kenney, S. R. Atilano, M. Chwa, N. Udar, A. B. Nesburn, P. Coskun, D. C. Wallace, D. S. Boyer; Association of Mitochondrial Haplogroups JTU With Age-Related Macular Degeneration (AMD). Invest. Ophthalmol. Vis. Sci. 2010;51(13):1276.
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© ARVO (1962-2015); The Authors (2016-present)
To examine the association of northern European JTU mitochondrial haplogroups and genes ARMS2/LOC387715 (G>T; rs 10490924); HTRA1 (G>A, rs 11200636) and CFH (T>C, rs 1061170) in an AMD population.
Total DNA was isolated from 99 AMD subjects and 92 age-matched control subjects. Polymerase chain reaction (PCR) and restriction enzyme digestion was used to identify the J, T, U and H mitochondrial haplogroups. The ARMS2/LOC387715, HTRA1, and CFH genes were amplified by PCR and digested with PvuII, SfiI, and NlaIII, respectively. Some PCR amplified products were sequenced at the UCLA Sequencing and Genotype Core to verify the nucleotide substitutions. Analyses were performed using the Mutation Surveyor program and SISA internet software.
In our AMD population the occurrence of the H haplogroup was similar in both AMD (26%, 26/99) and normal (33%, 30\92, p=0.08). In contrast the JTU cluster was 31% of the AMD population but only 6.5% of the age-matched normal population (OR=6.53; 95% CI=2.58-16.57; p=0.000007). The JTU cluster was highly significant for AMD in both female (OR=6.14; p=0.00045) and male (OR=6.84; p=0.0097) populations. Assuming a dominant effect, the risk alleles were associated with the total AMD population (ARMS2/LOC387715, OR=1.56; p=0.044) (HTRA1, OR=1.49; p=0.05) (CFH OR=1.97; p=0.009) and the late AMD (ARMS2/LOC387715, OR=1.92, p=0.022) (HTRA1, OR=1.79; p=0.031) (CFH, OR=2.20; p=0.006), but not the early AMD population. The JTU haplogroups and nuclear ARMS2/LOC387715; HTRA1; CFH genes were independently associated with AMD.
The mitochondrial JTU haplogroups are significantly associated with AMD. Our data suggest that mitochondrial related energy production plays a role in AMD.Supported by Discovery Eye Foundation, Lincy Foundation, Guenther Foundation, Iris and B. Gerald Cantor Foundation, Ko Family Foundation, Gilbert Foundation, Research to Prevent Blindness.
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