Mitochondrial haplogroups: Ischemic cardiovascular disease, other diseases, mortality, and longevity in the general population

Circulation

Volumn 117, Issue 19, 2008, Pages 2492-2501

  Benn, Marianne ^a,d   Schwartz, Marianne ^a,d   Nordestgaard, Børge G ^b,c,d   Tybjærg Hansen, Anne ^a,c,d  

^a Rigshospitalet   (Denmark)

^b GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^c BISPEBJERG HOSPITAL   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Cardiovascular diseases; Cerebrovascular disorders; Genetics; Morbidity; Mortality

Indexed keywords

ADULT; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CEREBROVASCULAR ACCIDENT; CONFIDENCE INTERVAL; CONTROLLED STUDY; DIGESTIVE SYSTEM FUNCTION DISORDER; EUROPE; FEMALE; GENE FREQUENCY; HAPLOTYPE; HAZARD RATIO; HOSPITALIZATION; HUMAN; ISCHEMIC HEART DISEASE; LONGEVITY; MAJOR CLINICAL STUDY; MALE; MALIGNANT NEOPLASTIC DISEASE; MENTAL DISEASE; MITOCHONDRION; MORBIDITY; MORTALITY; MUSCULOSKELETAL DISEASE; POPULATION; PRIORITY JOURNAL; PROSPECTIVE STUDY; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT INFECTION; SPONTANEOUS ABORTION;

CARDIOVASCULAR DISEASES; CEREBROVASCULAR DISORDERS; DENMARK; EPIDEMIOLOGY, MOLECULAR; HAPLOTYPES; HUMANS; MITOCHONDRIA; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; SURVIVAL RATE;

EID: 43449087360     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.107.756809     Document Type: Article

References (37)

1. Margulis L. Symbiosis in Cell Evolution. New York, NY: WH Freeman & Co Ltd; 1981.
2. Gabaldon T, Huynen MA. Lineage-specific gene loss following mitochondrial endosymbiosis and its potential for function prediction in eukaryotes. Bioinformatics. 2005;21:ii144-ii150.
3. Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med. 2002;347:576-580.
4. Cann RL, Stoneking M, Wilson AC. Mitochondrial DNA and human evolution. Nature. 1987;325:31-36.
5. Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19:255-271.
6. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC. Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A. 2003;100:171-176.
7. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science. 2004;303:223-226.
8. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348:2656-2668.
9. Wallace DC. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet. 2005;39:359-407.
10. Herrnstadt C, Howell N. An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders. Mitochondrion. 2004;4:791-798.
11. Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease? Hum Genet. 2006;119:241-254.
12. Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet. 2006;79:54-61.
13. Dahl M, Tybjærg-Hansen A, Schnohr P, Nordestgaard BG. A population-based study of morbidity and mortality in mannose-binding lectin deficiency. J Exp Med. 2004;199:1391-1399.
14. Mathers CD, Stein C, Fat DM, Rao C, Inoue M, Tomijima N, Bernard C, Lopez AD. Global Burden of Disease 2000: Version 2, Methods and Results. Geneva, Switzerland: World Health Organization; 2002:1-108.
15. Storm HH, Michelsen EV, Clemmensen IH, Pihl J. The Danish Cancer Registry: history, content, quality and use. Dan Med Bull. 1997;44:535-539.
16. Juel K, Helweg-Larsen K. The Danish registers of causes of death. Dan Med Bull. 1999;46:354-357.
17. Julian DG, Bertrand ME, Hjalmarson A, Fox K, Simoons ML, Ceremuzynski L, Maseri A, Meinertz T, Meyer J, Pyorala K, Rehnqvist N, Tavazzi L, Toutouzas P, Treasure T. Management of stable angina pectoris: recommendations of the Task Force of the European Society of Cardiology. Eur Heart J. 1997;18:394-413.
18. Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M. Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females. Mitochondrion. 2007;7:72-79.
19. Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M. Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males. Hum Genet. 2007;120:827-836.
20. Canter JA, Kallianpur AR, Parl FF, Millikan RC. Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res. 2005;65:8028-8033.
21. Liu VW, Wang Y, Yang HJ, Tsang PC, Ng TY, Wong LC, Nagley P, Ngan HY. Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer. Hum Mutat. 2003;22:173-174.
22. Booker LM, Habermacher GM, Jessie BC, Sun QC, Baumann AK, Amin M, Lim SD, Fernandez-Golarz C, Lyles RH, Brown MD, Marshall FF, Petros JA. North American white mitochondrial haplogroups in prostate and renal cancer. J Urol. 2006;175:468-472.
23. Canter JA, Kallianpur AR, Fowke JH. Re: North American white mitochondrial haplogroups in prostate and renal cancer. J Urol. 2006;176:2308-2309.
24. Poulton J, Brown MS, Cooper A, Marchington DR, Phillips DI. A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia. 1998;41:54-58.
25. Poulton J, Luan J, Macaulay V, Hennings S, Mitchell J, Wareham NJ. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Mol Genet. 2002;11:1581-1583.
26. Mohlke KL, Jackson AU, Scott LJ, Peck EC, Suh YD, Chines PS, Watanabe RM, Buchanan TA, Conneely KN, Erdos MR, Narisu N, Enloe S, Valle TT, Tuomilehto J, Bergman RN, Boehnke M, Collins FS. Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns. Hum Genet. 2005;118:245-254.
27. Chagnon P, Gee M, Filion M, Robitaille Y, Belouchi M, Gauvreau D. Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population. Am J Med Genet. 1999;85:20-30.
28. van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, Small GW, Schmechel DE, Murali DP, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett. 2004;365:28-32.
29. Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology. 2000;55:302-304.
30. van der 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 Jr, 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.
31. Ross OA, McCormack R, Maxwell LD, Duguid RA, Quinn DJ, Barnett YA, Rea IM, El Agnaf OM, Gibson JM, Wallace A, Middleton D, Curran MD. mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol. 2003;38:397-405.
32. De Benedictis G, Rose G, Carrieri G, De Luca M, Falcone E, Passarino G, Bonafe M, MontiD, Baggio G, Bertolini S, Mari D, Mattace R, Franceschi C. Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J. 1999;13:1532-1536.
33. Rose G, Passarino G, Carrieri G, Altomare K, Greco V, Bertolini S, Bonafe M, Franceschi C, De Benedictis G. Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. Eur J Hum Genet. 2001;9:701-707.
34. Ross OA, McCormack R, Curran MD, Duguid RA, Barnett YA, Rea IM, Middleton D. Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp Gerontol. 2001;36:1161-1178.
35. Niemi AK, Hervonen A, Hurme M, Karhunen PJ, Jylha M, Majamaa K. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet. 2003;112:29-33.
36. Tanaka M, Gong J, Zhang J, Yamada Y, Borgeld HJ, Yagi K. Mitochondrial genotype associated with longevity and its inhibitory effect on mutagenesis. Mech Ageing Dev. 2000;116:65-76.
37. Guzik TJ, Sadowski J, Guzik B, Jopek A, Kapelak B, Przybylowski P, Wierzbicki K, Korbut R, Harrison DG, Channon KM. Coronary artery superoxide production and Nox isoform expression in human coronary artery disease. Arterioscler Thromb Vasc Biol. 2006;26:333-339.