Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease

The American Journal of Human Genetics - Tập 79 - Trang 54-61 - 2006
Richa Saxena1,2,3,4, Paul I.W. de Bakker1,2,3,4, Karyn Singer1,2,4, Vamsi Mootha1,4, Noël Burtt4, Joel N. Hirschhorn3,5,4, Daniel Gaudet6, Bo Isomaa7,8, Mark J. Daly1,9,4, Leif Groop10, Kristin G. Ardlie11, David Altshuler1,2,3,9,4
1From the Center for Human Genetic Research, Massachusetts General Hospital
2Department of Molecular Biology, Massachusetts General Hospital
3Department of Genetics, Harvard Medical School
4Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA
5Divisions of Genetics and Endocrinology, Children’s Hospital, Boston
6University of Montreal Community Genomic Center, Chicoutimi Hospital, Montreal
7Folkhälsan Genetic Institute, Folkhälsan Research Center, Helsinki
8Malmska Municipal Health Center and Hospital, Jakobstad, Finland
9§Department of Medicine, Harvard Medical School, Boston
10Department of Clinical Sciences—Diabetes & Endocrinology at University Hospital MAS, Lund University, Malmö, Sweden
11Genomics Collaborative, Cambridge, MA

Tài liệu tham khảo

Mootha, 2003, Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria, Cell, 115, 629, 10.1016/S0092-8674(03)00926-7 Wallace, 2005, A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine, Annu Rev Genet, 39, 359, 10.1146/annurev.genet.39.110304.095751 Dimauro, 2005, Mitochondrial DNA and disease, Ann Med, 37, 222, 10.1080/07853890510007368 Smeitink, 2006, Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders, Cell Metab, 3, 9, 10.1016/j.cmet.2005.12.001 Zeviani, 2004, Mitochondrial disorders, Brain, 127, 2153, 10.1093/brain/awh259 Taylor, 2005, Mitochondrial DNA mutations in human disease, Nat Rev Genet, 6, 389, 10.1038/nrg1606 Barrett, 2001, Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes, Best Pract Res Clin Endocrinol Metab, 15, 325, 10.1053/beem.2001.0149 van den Ouweland, 1992, Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness, Nat Genet, 1, 368, 10.1038/ng0892-368 Wilson, 2004, A cluster of metabolic defects caused by mutation in a mitochondrial tRNA, Science, 306, 1190, 10.1126/science.1102521 Simoneau, 1997, Altered glycolytic and oxidative capacities of skeletal muscle contribute to insulin resistance in NIDDM, J Appl Physiol, 83, 166, 10.1152/jappl.1997.83.1.166 Kelley, 2002, Dysfunction of mitochondria in human skeletal muscle in type 2 diabetes, Diabetes, 51, 2944, 10.2337/diabetes.51.10.2944 Ritov, 2005, Deficiency of subsarcolemmal mitochondria in obesity and type 2 diabetes, Diabetes, 54, 8, 10.2337/diabetes.54.1.8 Mootha, 2003, PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes, Nat Genet, 34, 267, 10.1038/ng1180 Patti, 2003, Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1 and NRF1., Proc Natl Acad Sci USA, 100, 8466, 10.1073/pnas.1032913100 Petersen, 2003, Mitochondrial dysfunction in the elderly: possible role in insulin resistance, Science, 300, 1140, 10.1126/science.1082889 Petersen, 2004, Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes, N Engl J Med, 350, 664, 10.1056/NEJMoa031314 Petersen, 2005, Decreased insulin-stimulated ATP synthesis and phosphate transport in muscle of insulin-resistant offspring of type 2 diabetic parents, PLoS Med, 2, e233, 10.1371/journal.pmed.0020233 Mishmar, 2003, Natural selection shaped regional mtDNA variation in humans, Proc Natl Acad Sci USA, 100, 171, 10.1073/pnas.0136972100 Ruiz-Pesini, 2004, Effects of purifying and adaptive selection on regional variation in human mtDNA, Science, 303, 223, 10.1126/science.1088434 Lowell, 2005, Mitochondrial dysfunction and type 2 diabetes, Science, 307, 384, 10.1126/science.1104343 Savage, 2005, Mechanisms of insulin resistance in humans and possible links with inflammation, Hypertension, 45, 828, 10.1161/01.HYP.0000163475.04421.e4 Schapira, 1999, Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia, Biochim Biophys Acta, 1410, 159, 10.1016/S0005-2728(98)00164-9 Beal, 2005, Mitochondria take center stage in aging and neurodegeneration, Ann Neurol, 58, 495, 10.1002/ana.20624 Poulton, 1998, A common mitochondrial DNA variant is associated with insulin resistance in adult life, Diabetologia, 41, 54, 10.1007/s001250050866 Poulton, 2002, The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland, Diabet Med, 19, 969, 10.1046/j.0742-3071.2002.00836.x Poulton, 2002, Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study, Hum Mol Genet, 11, 1581, 10.1093/hmg/11.13.1581 Mohlke, 2005, Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns, Hum Genet, 118, 245, 10.1007/s00439-005-0046-4 Chinnery, 2005, Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes, Lancet, 366, 1650, 10.1016/S0140-6736(05)67492-2 Herrnstadt, 2004, An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders, Mitochondrion, 4, 791, 10.1016/j.mito.2004.07.041 Herrnstadt, 2002, Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups, Am J Hum Genet, 70, 1152, 10.1086/339933 Florez, 2004, Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes, Diabetes, 53, 3313, 10.2337/diabetes.53.12.3313 Winckler, 2005, Association testing of variants in the hepatocyte nuclear factor 4α gene with risk of type 2 diabetes in 7,883 people, Diabetes, 54, 886, 10.2337/diabetes.54.3.886 Tang, 2004, Mining disease susceptibility genes through SNP analyses and expression profiling using MALDI-TOF mass spectrometry, J Proteome Res, 3, 218, 10.1021/pr034080s Autere, 2004, Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia, Hum Genet, 115, 29, 10.1007/s00439-004-1123-9 Carrieri, 2001, Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease, Hum Genet, 108, 194, 10.1007/s004390100463 Dato, 2004, Association of the mitochondrial DNA haplogroup J with longevity is population specific, Eur J Hum Genet, 12, 1080, 10.1038/sj.ejhg.5201278 De Benedictis, 1999, Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans, FASEB J, 13, 1532, 10.1096/fasebj.13.12.1532 De Benedictis, 2000, Inherited variability of the mitochondrial genome and successful aging in humans, Ann N Y Acad Sci, 908, 208, 10.1111/j.1749-6632.2000.tb06648.x Giacchetti, 2004, Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype, J Med Genet, 41, 293, 10.1136/jmg.2003.015289 Khogali, 2001, A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations, Lancet, 357, 1265, 10.1016/S0140-6736(00)04422-6 Momiyama, 2003, A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes, Biochem Biophys Res Commun, 312, 858, 10.1016/j.bbrc.2003.10.195 Niemi, 2003, Mitochondrial DNA polymorphisms associated with longevity in a Finnish population, Hum Genet, 112, 29, 10.1007/s00439-002-0843-y Niemi, 2005, A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects, Eur J Hum Genet, 13, 166, 10.1038/sj.ejhg.5201308 Ross, 2001, Mitochondrial DNA polymorphism: its role in longevity of the Irish population, Exp Gerontol, 36, 1161, 10.1016/S0531-5565(01)00094-8 Tanaka, 1998, Mitochondrial genotype associated with longevity, Lancet, 351, 185, 10.1016/S0140-6736(05)78211-8 Tanaka, 2002, Mitochondrial genotypes and cytochrome b variants associated with longevity or Parkinson's disease, J Neurol Suppl, 2 249, II/11 van der Walt, 2003, Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease, Am J Hum Genet, 72, 804, 10.1086/373937 van der Walt, 2004, Analysis of European mitochondrial haplogroups with Alzheimer disease risk, Neurosci Lett, 365, 28, 10.1016/j.neulet.2004.04.051 Huerta, 2005, Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population, J Neurol Sci, 236, 49, 10.1016/j.jns.2005.04.016 Torroni, 1996, Classification of European mtDNAs from an analysis of three European populations, Genetics, 144, 1835, 10.1093/genetics/144.4.1835 Kruglyak, 2001, Variation is the spice of life, Nat Genet, 27, 234, 10.1038/85776 Reich, 2003, Quality and completeness of SNP databases, Nat Genet, 33, 457, 10.1038/ng1133 2005, A haplotype map of the human genome, Nature, 437, 1299, 10.1038/nature04226 de Bakker, 2005, Efficiency and power in genetic association studies, Nat Genet, 37, 1217, 10.1038/ng1669 Marchini, 2005, Genome-wide strategies for detecting multiple loci that influence complex diseases, Nat Genet, 37, 413, 10.1038/ng1537 Purcell, 2003, Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits, Bioinformatics, 19, 149, 10.1093/bioinformatics/19.1.149 Maitra, 2004, The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection, Genome Res, 14, 812, 10.1101/gr.2228504 Kivisild, 2006, The role of selection in the evolution of human mitochondrial genomes, Genetics, 172, 373, 10.1534/genetics.105.043901 Jazin, 1996, Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA, Proc Natl Acad Sci USA, 93, 12382, 10.1073/pnas.93.22.12382