Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

BMC Genetics

Volumn 11, Issue , 2010, Pages

  Wolf, Christiane ^a   Gramer, Eugen ^b   Müller Myhsok, Bertram ^c   Pasutto, Francesca ^d   Wissinger, Bernd ^a   Weisschuh, Nicole ^a  

^a Institute for Ophthalmic Research   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

AGED; ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EUROPE; EXFOLIATION SYNDROME; FEMALE; GENETIC SUSCEPTIBILITY; GENOTYPE; GERMANY; HAPLOTYPE; HUMAN; HYPOTHESIS; MAJOR CLINICAL STUDY; MALE; OPEN ANGLE GLAUCOMA; PATHOGENESIS; POPULATION GENETICS; RISK ASSESSMENT; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; CAUCASIAN; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; RISK FACTOR;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXFOLIATION SYNDROME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERMANY; GLAUCOMA, OPEN-ANGLE; HUMANS; MALE; MIDDLE AGED; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 77649312366     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-11-8     Document Type: Article

References (36)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006, 90:262-267. 10.1136/bjo.2005.081224, 1856963, 16488940.
2. Gong G, Kosoko-Lasaki S, Haynatzki G, Lynch HT, Lynch JA, Wilson MR. Inherited, familial and sporadic primary open-angle glaucoma. J Natl Med Assoc 2007, 99:559-563. 2576058, 17534014.
3. Flammer J, Mozaffarieh M. What is the present pathogenetic concept of glaucomatous optic neuropathy?. Surv Ophthalmol 2007, 52(Suppl 2):162-173.
4. Casson RJ. Possible role of excitotoxicity in the pathogenesis of glaucoma. Clin Experiment Ophthalmol 2006, 34:54-63. 10.1111/j.1442-9071.2006.01146.x, 16451260.
5. Grus FH, Joachim SC, Wuenschig D, Rieck J, Pfeiffer N. Autoimmunity and glaucoma. J Glaucoma 2008, 17:79-84. 10.1097/IJG.0b013e318156a592, 18303391.
6. Kong GY, Van Bergen NJ, Trounce IA, Crowston JG. Mitochondrial dysfunction and glaucoma. J Glaucoma 2009, 18:93-100. 10.1097/IJG.0b013e318181284f, 19225343.
7. Tezel G, Yang X. Caspase-independent component of retinal ganglion cell death in vitro. Invest Ophthalmol Vis Sci 2004, 45:4049-4059. 10.1167/iovs.04-0490, 15505055.
8. Ferreira SM, Lerner SF, Brunzini R, Evelson PA, Llesuy SF. Oxidative stress markers in aqueous humor of glaucoma patients. Am J Ophthalmol 2004, 137:62-69. 10.1016/S0002-9394(03)00788-8, 14700645.
9. Ferreira SM, Lerner SF, Brunzini R, Evelson PA, Llesuy SF. Antioxidant status in the aqueous humour of patients with glaucoma associated with exfoliation syndrome. Eye 2009, 23:1691-1697. 10.1038/eye.2008.352, 19023334.
10. Sacca SC, Pascotto A, Camicione P, Capris P, Izzotti A. Oxidative DNA damage in the human trabecular meshwork: clinical correlation in patients with primary open-angle glaucoma. Arch Ophthalmol 2005, 123:458-463. 10.1001/archopht.123.4.458, 15824217.
11. Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006, 47:2533-2541. 10.1167/iovs.05-1639, 16723467.
12. Ju WK, Liu Q, Kim KY, Crowston JG, Lindsey JD, Agarwal N, Ellisman MH, Perkins GA, Weinreb RN. Elevated hydrostatic pressure triggers mitochondrial fission and decreases cellular ATP in differentiated RGC-5 cells. Invest Ophthalmol Vis Sci 2007, 48:2145-2151. 10.1167/iovs.06-0573, 17460273.
13. Morgan RW, Drance SM. Chronic open-angle glaucoma and ocular hypertension. An epidemiological study. Br J Ophthalmol 1975, 59:211-215. 10.1136/bjo.59.4.211, 1042596, 1138846.
14. Shin DH, Becker B, Kolker AE. Family history in primary open-angle glaucoma. Arch Ophthalmol 1977, 95:598-600.
15. Charliat G, Jolly D, Blanchard F. Genetic risk factor in primary open-angle glaucoma: a case-control study. Ophthalmic Epidemiol 1994, 1:131-138. 10.3109/09286589409047221, 8790619.
16. Nemesure B, Leske MC, He Q, Mendell N. Analyses of reported family history of glaucoma: a preliminary investigation. The Barbados Eye Study Group. Ophthalmic Epidemiol 1996, 3:135-141. 10.3109/09286589609080119, 8956317.
17. Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006, 47:2533-2541. 10.1167/iovs.05-1639, 16723467.
18. Larsen NB, Rasmussen M, Rasmussen LJ. Nuclear and mitochondrial DNA repair: similar pathways?. Mitochondrion 2005, 5:89-108. 10.1016/j.mito.2005.02.002, 16050976.
19. Bohr VA, Stevnsner T, de Souza-Pinto NC. Mitochondrial DNA repair of oxidative damage in mammalian cells. Gene 2002, 286:127-134. 10.1016/S0378-1119(01)00813-7, 11943468.
20. Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997, 60:1107-1121. 1712418, 9150158.
21. Raule N, Sevini F, Santoro A, Altilia S, Franceschi C. Association studies on human mitochondrial DNA: methodological aspects and results in the most common age-related diseases. Mitochondrion 2007, 7:29-38. 10.1016/j.mito.2006.11.013, 17306632.
22. Singh KK, Kulawiec M. Mitochondrial DNA polymorphism and risk of cancer. Methods Mol Biol 2009, 471:291-303. full_text, 19109786.
23. Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R, Sadun AA, Torroni A. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 2006, 78:564-574. 10.1086/501236, 1424694, 16532388.
24. Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C. Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet 2008, 17:4001-4011. 10.1093/hmg/ddn303, 18806273.
25. Pierron D, Rocher C, Amati-Bonneau P, Reynier P, Martin-Négrier ML, Allouche S, Batandier C, de Camaret BM, Godinot C, Rotig A, Feldmann D, Bellanne-Chantelot C, Arveiler B, Pennarun E, Rossignol R, Crouzet M, Murail P, Thoraval D, Letellier T. New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation. BMC Med Genet 2008, 9:41-53. 10.1186/1471-2350-9-41, 2409300, 18462486.
26. Finnilä S, Lehtonen MS, Majamaa K. Phylogenetic network for European mtDNA. Am J Hum Genet 2001, 68:1475-1484. 10.1086/320591, 1226134, 11349229.
27. Andrews R, Ressiniotis T, Turnbull DM, Birch M, Keers S, Chinnery PF, Griffiths PG. The role of mitochondrial haplogroups in primary open angle glaucoma. Br J Ophthalmol 2006, 90:488-490. 10.1136/bjo.2005.084335, 1857003, 16547333.
28. Abu-Amero KK, Morales J, Bosley TM, Mohamed GH, Cabrera VM. The role of mitochondrial haplogroups in glaucoma: a study in an Arab population. Mol Vis 2008, 14:518-522. 2268863, 18385785.
29. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996, 144:1835-1850. 1207732, 8978068.
30. Wiesbauer M, Meierhofer D, Mayr JA, Sperl W, Paulweber B, Kofler B. Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups. Electrophoresis 2006, 27:3864-3868. 10.1002/elps.200600086, 16960846.
31. Kofler B, Mueller EE, Eder W, Stanger O, Maier R, Weger M, Haas A, Winker R, Schmut O, Paulweber B, Iglseder B, Renner W, Wiesbauer M, Aigner I, Santic D, Zimmermann FA, Mayr JA, Sperl W. Mitochondrial DNA haplogroups T is associated with coronary artery disease and diabetic retinopathy: a case control study. BMC Med Genet 2009, 10:35-41. 10.1186/1471-2350-10-35, 2676278, 19383124.
32. Samuels DC, Carothers AD, Horton R, Chinnery PF. The Power to Detect Disease Associations with Mitochondrial DNA Haplogroups. Am J Hum Genet 2006, 78:713-720. 10.1086/502682, 1424681, 16532401.
33. Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 2003, 72:804-811. 10.1086/373937, 1180345, 12618962.
34. Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, Small GW, Schmechel DE, Murali Doraiswamy P, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 2004, 365:28-32. 10.1016/j.neulet.2004.04.051, 15234467.
35. Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, Wallace DC. MtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the Dloop region. Am J Hum Genet 1994, 55:760-776. 1918284, 7942855.
36. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonné-Tamir B, Sykes B, Torroni A. The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 1999, 64:232-249. 10.1086/302204, 1377722, 9915963.