Analysis of European mitochondrial haplogroups with Alzheimer disease risk.

PubWeight™: 2.36‹?› | Rank: Top 2%

🔗 View Article (PMID 15234467)

Published in Neurosci Lett on July 15, 2004

Authors

Joelle M van der Walt1, Yulia A Dementieva, Eden R Martin, William K Scott, Kristin K Nicodemus, Charles C Kroner, Kathleen A Welsh-Bohmer, Ann M Saunders, Allen D Roses, Gary W Small, Donald E Schmechel, P Murali Doraiswamy, John R Gilbert, Jonathan L Haines, Jeffery M Vance, Margaret A Pericak-Vance

Author Affiliations

1: Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

Articles citing this

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet (2005) 16.79

Mitochondrial DNA mutations in human disease. Nat Rev Genet (2005) 8.51

An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51

Mitochondrial energetics and therapeutics. Annu Rev Pathol (2010) 3.07

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet (2006) 2.60

Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study. Lancet Neurol (2010) 2.33

Energetics, epigenetics, mitochondrial genetics. Mitochondrion (2009) 2.08

The pathophysiology of mitochondrial disease as modeled in the mouse. Genes Dev (2009) 1.87

Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet (2006) 1.78

Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease. Free Radic Biol Med (2012) 1.67

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases. PLoS Genet (2014) 1.64

The Alzheimer's disease mitochondrial cascade hypothesis. J Alzheimers Dis (2010) 1.60

Mitochondria as chi. Genetics (2008) 1.53

A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta (2011) 1.52

The power to detect disease associations with mitochondrial DNA haplogroups. Am J Hum Genet (2006) 1.49

Mitochondrial haplotypes associated with biomarkers for Alzheimer's disease. PLoS One (2013) 1.47

The Alzheimer's disease mitochondrial cascade hypothesis: an update. Exp Neurol (2009) 1.36

The Alzheimer's disease mitochondrial cascade hypothesis: progress and perspectives. Biochim Biophys Acta (2013) 1.34

Pathogenesis of Alzheimer's disease. Clin Interv Aging (2007) 1.27

Mitochondrial DNA haplogroups influence lipoatrophy after highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2009) 1.24

Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial-nuclear interactions. Hum Mol Genet (2014) 1.23

Mitochondria and cell bioenergetics: increasingly recognized components and a possible etiologic cause of Alzheimer's disease. Antioxid Redox Signal (2011) 1.21

Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation. Proc Biol Sci (2009) 1.20

Bioenergetic origins of complexity and disease. Cold Spring Harb Symp Quant Biol (2011) 1.19

Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia. J Alzheimers Dis (2010) 1.19

Does the mitochondrial genome play a role in the etiology of Alzheimer's disease? Hum Genet (2006) 1.16

The neurodegenerative mitochondriopathies. J Alzheimers Dis (2009) 1.14

Maternal transmission of Alzheimer's disease: prodromal metabolic phenotype and the search for genes. Hum Genomics (2010) 1.12

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10

Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases. Biochim Biophys Acta (2013) 1.10

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. PLoS One (2010) 1.06

The role of mitochondria in neurodegenerative diseases. J Neurol (2011) 1.05

Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. Neurobiol Aging (2010) 1.05

Dissecting the effects of mtDNA variations on complex traits using mouse conplastic strains. Genome Res (2008) 1.00

The mitochondrial paradigm for cardiovascular disease susceptibility and cellular function: a complementary concept to Mendelian genetics. Lab Invest (2011) 0.99

The mitochondrial A10398G polymorphism, interaction with alcohol consumption, and breast cancer risk. PLoS One (2009) 0.97

The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study. Hum Genet (2006) 0.97

Characterization of mitochondrial haplogroups in a large population-based sample from the United States. Hum Genet (2014) 0.96

Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells. PLoS One (2012) 0.95

Mitochondrial genomic analysis of late onset Alzheimer's disease reveals protective haplogroups H6A1A/H6A1B: the Cache County Study on Memory in Aging. PLoS One (2012) 0.92

Further evidence of a maternal parent-of-origin effect on chromosome 10 in late-onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2006) 0.92

Association of mitochondrial DNA levels with frailty and all-cause mortality. J Mol Med (Berl) (2014) 0.92

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany. Neurol Sci (2007) 0.91

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study. BMC Med Genet (2013) 0.91

Mitochondrial DNA sequence variation and neurodegeneration. Hum Genomics (2008) 0.91

Role and treatment of mitochondrial DNA-related mitochondrial dysfunction in sporadic neurodegenerative diseases. Curr Pharm Des (2011) 0.90

The role of the mitochondrial genome in ageing and carcinogenesis. J Aging Res (2011) 0.90

Genetics of Alzheimer's disease. Biomed Res Int (2013) 0.90

No consistent evidence for association between mtDNA variants and Alzheimer disease. Neurology (2012) 0.89

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation. PLoS One (2012) 0.89

Mitochondria, cognitive impairment, and Alzheimer's disease. Int J Alzheimers Dis (2009) 0.89

Maternal lineages and Alzheimer disease risk in the Old Order Amish. Hum Genet (2005) 0.88

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort. Age (Dordr) (2011) 0.87

Mitochondrial DNA (mtDNA) haplogroups and serum levels of anti-oxidant enzymes in patients with osteoarthritis. BMC Musculoskelet Disord (2011) 0.87

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants. Biol Chem (2010) 0.86

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration. Mol Neurodegener (2010) 0.86

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population. BMC Genet (2010) 0.86

Mitochondrial haplogroups define two phenotypes of osteoarthritis. Front Physiol (2012) 0.86

mtDNA haplogroup J modulates telomere length and nitric oxide production. BMC Musculoskelet Disord (2011) 0.85

May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease? Int J Alzheimers Dis (2011) 0.83

Associating mitochondrial DNA variation with complex traits. Am J Hum Genet (2007) 0.83

A generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables. PLoS One (2013) 0.83

Common mitochondrial polymorphisms as risk factor for endometrial cancer. Int Arch Med (2009) 0.83

Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population. PLoS One (2013) 0.82

Do haplogroups H and U act to increase the penetrance of Alzheimer's disease? Cell Mol Neurobiol (2006) 0.82

Mitochondrial DNA haplogroup associated with sperm motility in the Han population. Asian J Androl (2013) 0.81

Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy. PLoS One (2012) 0.81

Polymorphisms in the mitochondrial DNA control region and frailty in older adults. PLoS One (2010) 0.81

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J. PLoS One (2008) 0.81

Specific polymorphic variation in the mitochondrial genome and increased in-hospital mortality after severe trauma. Ann Surg (2007) 0.81

Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration. Mol Vis (2013) 0.80

Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies. BioData Min (2014) 0.80

The rise of mitochondria in medicine. Mitochondrion (2016) 0.80

Female genetic distribution bias in mitochondrial genome observed in Parkinson's Disease patients in northern China. Sci Rep (2015) 0.80

mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences. Aging Dis (2013) 0.79

Is there a primary role of the mitochondrial genome in Alzheimer's disease? J Bioenerg Biomembr (2009) 0.79

Beyond retrograde and anterograde signalling: mitochondrial-nuclear interactions as a means for evolutionary adaptation and contemporary disease susceptibility. Biochem Soc Trans (2013) 0.79

Alzheimer's pathogenesis and its link to the mitochondrion. Oxid Med Cell Longev (2015) 0.79

Association testing of the mitochondrial genome using pedigree data. Genet Epidemiol (2013) 0.78

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci (2014) 0.77

Reactive oxygen species production and mitochondrial dysfunction in white blood cells are not valid biomarkers of ageing in the very old. PLoS One (2014) 0.77

mtDNA germ line variation mediated ROS generates retrograde signaling and induces pro-cancerous metabolic features. Sci Rep (2014) 0.77

Mitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusis. Acta Otorhinolaryngol Ital (2014) 0.76

Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands. J Inherit Metab Dis (2009) 0.76

The A10389G polymorphism of ND3 gene and breast cancer: A meta-analysis. Biomed Rep (2013) 0.76

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease. Eur J Hum Genet (2014) 0.76

Genome digging: insight into the mitochondrial genome of Homo. PLoS One (2010) 0.75

mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India. Meta Gene (2014) 0.75

Triad of Risk for Late Onset Alzheimer's: Mitochondrial Haplotype, APOE Genotype and Chromosomal Sex. Front Aging Neurosci (2016) 0.75

An association analysis between mitochondrial DNA A10398G polymorphism and temperament in Japanese young adults. PLoS One (2009) 0.75

Effect of migration patterns on maternal genetic structure: a case of Tai-Kadai migration from China to Thailand. J Hum Genet (2016) 0.75

Forensic analysis of the mitochondrial coding region and association to disease. Int J Legal Med (2005) 0.75

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res (2015) 0.75

Associations between male infertility and ancestry in South Americans: a case control study. BMC Med Genet (2017) 0.75

Mitochondrial DNA sequencing and large-scale genotyping identifies MT-ND4 gene mutation m.11696G>A associated with idiopathic oligoasthenospermia. Oncotarget (2017) 0.75

Articles by these authors

Finding the missing heritability of complex diseases. Nature (2009) 67.95

Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 17.95

Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06

Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66

Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet (2009) 8.44

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02

The knockout mouse project. Nat Genet (2004) 7.80

The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress. Cell (2003) 7.71

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45

Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet (2009) 7.16

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science (2005) 7.03

Hormone replacement therapy and incidence of Alzheimer disease in older women: the Cache County Study. JAMA (2002) 6.72

Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci U S A (2003) 6.46

Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet (2003) 5.34

Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet (2007) 5.09

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol (2007) 5.09

Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol (2008) 5.08

A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms. Genet Epidemiol (2008) 5.07

A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85

The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research. Am J Hum Genet (2008) 4.79

No gene is an island: the flip-flop phenomenon. Am J Hum Genet (2007) 4.69

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet (2010) 4.47

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet (2010) 4.26

Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet (2002) 3.84

Identification of miRNA changes in Alzheimer's disease brain and CSF yields putative biomarkers and insights into disease pathways. J Alzheimers Dis (2008) 3.84

Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet (2009) 3.54

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A (2009) 3.49

PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. Sci Transl Med (2010) 3.48

A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42

Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39

Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation (2010) 3.35

Genetics, statistics and human disease: analytical retooling for complexity. Trends Genet (2004) 3.35

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet (2008) 3.27

Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet (2006) 3.13

Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet (2005) 3.03

Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A (2007) 3.03

Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. Proc Natl Acad Sci U S A (2005) 3.02

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98

The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. Am J Epidemiol (2011) 2.98

Treatment course with antidepressant therapy in late-life depression. Am J Psychiatry (2012) 2.94

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91