Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.

<h4>Background</h4>Onset and development of the multifactorial disease age-related macular degeneration (AMD) are highly interrelated with mitochondrial functions such as energy production and free radical turnover. Mitochondrial dysfunction and overproduction of reactive oxygen species...

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Autores principales:	Edith E Mueller, Elena Schaier, Susanne M Brunner, Waltraud Eder, Johannes A Mayr, Stefan F Egger, Christian Nischler, Hannes Oberkofler, Herbert A Reitsamer, Wolfgang Patsch, Wolfgang Sperl, Barbara Kofler
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/9c172b5013e24804b123d15bbcfdfc52
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spelling	oai:doaj.org-article:9c172b5013e24804b123d15bbcfdfc522021-11-18T07:28:28ZMitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.1932-620310.1371/journal.pone.0030874https://doaj.org/article/9c172b5013e24804b123d15bbcfdfc522012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22348027/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Onset and development of the multifactorial disease age-related macular degeneration (AMD) are highly interrelated with mitochondrial functions such as energy production and free radical turnover. Mitochondrial dysfunction and overproduction of reactive oxygen species may contribute to destruction of the retinal pigment epithelium, retinal atrophy and choroidal neovascularization, leading to AMD. Consequently, polymorphisms of the mitochondrial genome (mtDNA) are postulated to be susceptibility factors for this disease. Previous studies from Australia and the United States detected associations of mitochondrial haplogroups with AMD. The aim of the present study was to test these associations in Middle European Caucasians.<h4>Methodology/principal findings</h4>Mitochondrial haplogroups (combinations of mtDNA polymorphisms) and mitochondrial CR polymorphisms were analyzed in 200 patients with wet AMD (choroidal neovascularization, CNV), in 66 patients with dry AMD, and in 385 controls from Austria by means of multiplex primer extension analysis and sequencing, respectively. In patients with CNV, haplogroup H was found to be significantly less frequent compared to controls, and haplogroup J showed a trend toward a higher frequency compared to controls. Five CR polymorphisms were found to differ significantly in the two study populations compared to controls, and all, except one (T152C), are linked to those haplogroups.<h4>Conclusions/significance</h4>It can be concluded that haplogroup J is a risk factor for AMD, whereas haplogroup H seems to be protective for AMD.Edith E MuellerElena SchaierSusanne M BrunnerWaltraud EderJohannes A MayrStefan F EggerChristian NischlerHannes OberkoflerHerbert A ReitsamerWolfgang PatschWolfgang SperlBarbara KoflerPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 2, p e30874 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Edith E Mueller Elena Schaier Susanne M Brunner Waltraud Eder Johannes A Mayr Stefan F Egger Christian Nischler Hannes Oberkofler Herbert A Reitsamer Wolfgang Patsch Wolfgang Sperl Barbara Kofler Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
description	<h4>Background</h4>Onset and development of the multifactorial disease age-related macular degeneration (AMD) are highly interrelated with mitochondrial functions such as energy production and free radical turnover. Mitochondrial dysfunction and overproduction of reactive oxygen species may contribute to destruction of the retinal pigment epithelium, retinal atrophy and choroidal neovascularization, leading to AMD. Consequently, polymorphisms of the mitochondrial genome (mtDNA) are postulated to be susceptibility factors for this disease. Previous studies from Australia and the United States detected associations of mitochondrial haplogroups with AMD. The aim of the present study was to test these associations in Middle European Caucasians.<h4>Methodology/principal findings</h4>Mitochondrial haplogroups (combinations of mtDNA polymorphisms) and mitochondrial CR polymorphisms were analyzed in 200 patients with wet AMD (choroidal neovascularization, CNV), in 66 patients with dry AMD, and in 385 controls from Austria by means of multiplex primer extension analysis and sequencing, respectively. In patients with CNV, haplogroup H was found to be significantly less frequent compared to controls, and haplogroup J showed a trend toward a higher frequency compared to controls. Five CR polymorphisms were found to differ significantly in the two study populations compared to controls, and all, except one (T152C), are linked to those haplogroups.<h4>Conclusions/significance</h4>It can be concluded that haplogroup J is a risk factor for AMD, whereas haplogroup H seems to be protective for AMD.
format	article
author	Edith E Mueller Elena Schaier Susanne M Brunner Waltraud Eder Johannes A Mayr Stefan F Egger Christian Nischler Hannes Oberkofler Herbert A Reitsamer Wolfgang Patsch Wolfgang Sperl Barbara Kofler
author_facet	Edith E Mueller Elena Schaier Susanne M Brunner Waltraud Eder Johannes A Mayr Stefan F Egger Christian Nischler Hannes Oberkofler Herbert A Reitsamer Wolfgang Patsch Wolfgang Sperl Barbara Kofler
author_sort	Edith E Mueller
title	Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
title_short	Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
title_full	Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
title_fullStr	Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
title_full_unstemmed	Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
title_sort	mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/9c172b5013e24804b123d15bbcfdfc52
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Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.

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