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Mitochondrial Haplogroup U Is Associated with a Reduced Risk To Wolf et al. BMC Genetics 2010, 11:8 http://www.biomedcentral.com/1471-2156/11/8 RESEARCH ARTICLE Open Access Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population Christiane Wolf1†, Eugen Gramer2†, Bertram Müller-Myhsok3, Francesca Pasutto4, Bernd Wissinger1, Nicole Weisschuh1* Abstract 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. Background ganglion cell (RGC) death in a cell culture model [7]. Glaucoma is among the leading causes of blindness in The pathogenic role of reactive oxygen species in glau- elderly people of western European ancestry [1]. In the coma is supported by various experimental findings, last ten years a few genes and a number of unsolved such as an increase of the oxidative stress markers gene loci for open angle glaucoma have been identified superoxide dismutase, catalase, and glutathione peroxi- based on the analyses of mendelian forms of glaucoma. dase in the aqueous humor of patients with primary These however only comprise a small fraction of the open angle glaucoma and exfoliation glaucoma [8,9]. A total glaucoma patient population. None of these genes significant correlation between oxidative DNA damage or loci has been shown to have a relevant impact on the in the trabecular meshwork and intraocular pressure glaucoma population as a whole. The strong hereditary (IOP) increase and visual field defects was observed in component in glaucoma most likely results from multi- glaucomatous patients [10]. In an independent study, a genic inheritance involving multiple susceptibility genes significant reduction of mitochondrial respiratory func- [2]. tion in peripheral blood cells was observed in glaucoma Diverse pathophysiological mechanisms are discussed patients when compared to age-matched healthy con- to be involved in glaucoma including vascular dysregula- trols [11]. Another study showed that the exposure of tion, excitotoxicity, autoimmunity and oxidative stress RGCs to elevated hydrostatic pressure resembling an [3-6]. The latter is relevant to neuronal damage in the elevated intraocular pressure results in altered mito- glaucomatous retina and optic nerve head since it trig- chondrial fission [12]. gers mitochondrial dysfunction and leads to retinal The involvement of mitochondrial dysfunction in glaucoma can also be certified by maternal inheritance. * Correspondence: [email protected] Several studies have shown that a maternal family his- † Contributed equally tory is more frequent than a paternal history in glau- 1Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany coma [13-16] which suggests a contribution of © 2010 Wolf et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Wolf et al. BMC Genetics 2010, 11:8 Page 2 of 6 http://www.biomedcentral.com/1471-2156/11/8 mitochondrial DNA (mtDNA) to glaucoma pathogen- in 552 healthy controls with a patient cohort that was esis. In fact, an increased frequency of nonsynonymous composed of three different glaucoma subtypes (49 mtDNA sequence changes in patients with primary patients with primary open angle glaucoma, 29 cases open angle glaucoma has been shown [17]. However, with primary angle closure glaucoma and 29 cases with this report describes a relatively small number of exfoliation glaucoma). Like in the first study, the authors patients from a restricted ethnic population and confir- were not able to identify significant differences between mation in other populations is still lacking. patients and controls for all mitochondrial haplogroups MtDNA is exposed to a higher mutation rate com- tested except for the 29 primary angle closure glaucoma pared to nuclear DNA as it is not protected by histones. patients. The authors however admitted that the statisti- Furthermore, the repair mechanisms in mitochondria cal significance reached for this patient group might are not as efficient as those in the nucleus [18,19]. have been accidental due to the small number of cases. Among the numerous mutations that have accumulated The aim of our study was to evaluate the distribution in mtDNA during evolution there are several ethnic spe- of mtHgs in two German cohorts with exfoliation glau- cific single nucleotide polymorphisms (SNPs) that coma (n = 157) and the normal tension subgroup of enable the definition of discrete and region specific sub- primary open angle glaucoma (n = 272). The frequen- divisions of the human population called mitochondrial cies of ten common European mtHgs in both cohorts haplogroups (mtHgs). More than 90% of European were compared with those in a control group (n = mtDNAs belong to nine haplogroups (H, V, U, K, J, T, 249) of German origin. W, I and X), which are highly specific for Western Eura- sia [20]. Specific mtHgs might reflect functional differ- Results and Discussion ences in energy metabolism and were therefore linked We studied the mitochondrial haplogroup distribution with human diseases like neurodegenerative disorders among 272 patients with the normal tension subgroup [21] or cancer [22]. Polymorphisms in mtDNA might of primary open angle glaucoma (NTG) and 157 also represent modifier factors as has been shown in patients with exfoliation glaucoma (XFG). Two hundred Leber’s hereditary optic neuropathy (LHON) where and forty-nine individuals matched for age, gender and mtHgs contribute to the phenotypic expression of ethnicity and with exclusion of glaucoma served as con- mtDNA mutations [23-25]. trol group. The relationship of mtHg distribution and glaucoma TenmajorEuropeanhaplogroups(HV,H,I,J,K,T, has not been subject of comprehensive studies so far. U, V, W and X) were observed in both patient groups One study was based on the phylogenetic network for and in controls (Table 1). All frequencies observed in European mtDNA [26]. The authors genotyped 140 the control group were consistent with previous studies patients with primary open angle glaucoma and 75 of European populations [29-31]. healthy controls but could not detect a significant differ- When comparing the frequencies of mitochondrial ence of mtHgs frequencies between patients and con- haplogroups between cases and controls, we observed trols [27]. A second study in the Saudi-Arab population that haplogroup U was clearly under-represented in [28] compared the prevalence of region specific mtHgs XFG patients (8.3% compared to 18.9% in controls). Table 1 Haplogroup distribution in patients and controls Controls (n = 249) NTG (n = 272) XFG (n = 157) mtHg f f p OR L95 U95 f p OR L95 U95 H 0.450 0.434 0.725 0.937 0.663 1.324 0.491 0.475 1.177 0.790 1.756 U 0.189 0.132 0.093 0.656 0.410 1.049 0.083 0.004 0.388 0.204 0.737 T 0.108 0.147 0.193 1.418 0.845 2.379 0.115 0.872 1.065 0.570 1.991 J 0.068 0.063 0.860 0.910 0.459 1.804 0.070 1.000 1.028 0.476 2.222 K 0.056 0.099 0.075 1.850 0.956 3.578 0.083 0.312 1.515 0.704 3.265 O 0.040 0.0 0.006 V 0.024 0.033 0.051 W 0.020 0.015 0.032 HV 0.016 0.018 0.038 I 0.016 0.018 0.013 X 0.012 0.018 0.019 O, unclassified mitochondrial haplogroups; f, frequency; OR, odds ratio; L95, confidence interval 95% lower bound; U95, confidence interval 95% upper bound. Odds ratios were calculated only for haplogroups with a frequency >5%. The only significant p-value is in bold. Wolf et al. BMC Genetics 2010, 11:8 Page 3 of 6 http://www.biomedcentral.com/1471-2156/11/8 Statistical analysis with Fisher’s exact test revealed that history (8%) (data not shown). This difference is statisti- this difference was significant (p = 0.004). cally significant (p = 0.01). Within the XFG patients, In NTG patients, haplogroup U was slightly under- 18% have an affected mother whereas only 10% report represented (13.2 % compared to 18.9% in controls) an affected father (data not shown). This difference does whereas haplogroup T was slightly over-represented not reach significance level (p = 0.13) but indicates a (14.7% compared to 10.8% in controls). However, these higher prevalence for maternal history in XFG glau- differences were not significant (Table 1). Either mito- coma. Although several sources of bias might influence chondrial haplogroups are not associated with this spe- these results (recall bias; closer offspring contact with cific disease entity or NTG is genetically more complex mothers than fathers; greater life expectancy of females than XFG and therefore larger sample sizes would be that increases the rate of affected women in a late onset required to detect subtle differences in the distribution disease such as glaucoma), a higher prevalence of mater- of mtHgs. As has been shown by Samuels and co-work- nal history in glaucoma has been reported repeatedly ers [32] subtle changes in haplogroup frequency will [13-16] and alternative mechanisms for this observation require cohorts that should be at least twice as large as (e.g.
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