Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population.
BACKGROUND
Various lines of evidence demonstrate the involvement of mitochondrial dysfunction in the pathogenesis of glaucoma. Therefore, mitochondrial DNA is a promising candidate for genetic susceptibility studies on glaucoma. To test the hypothesis that mitochondrial haplogroups influence the risk to develop glaucoma, we genotyped 12 single-nucleotide polymorphisms that define the European mitochondrial DNA haplogroups in healthy controls and two German patient cohorts with either exfoliation glaucoma or the normal tension subgroup of primary open angle glaucoma.


RESULTS
Mitochondrial haplogroup U was significantly under-represented in patients with exfoliation glaucoma (8.3% compared with 18.9% in controls; p = 0.004).


CONCLUSIONS
People with haplogroup U have a lower risk to develop exfoliation glaucoma. Our results substantiate the suggestion that mitochondrial alterations have an impact on the etiology of glaucoma.
Wolf
Christiane
C
Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany.
Gramer
Eugen
E
Müller-Myhsok
Bertram
B
Pasutto
Francesca
F
Wissinger
Bernd
B
Weisschuh
Nicole
N
D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
D004272:DNA, Mitochondrial