Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females

Nishigaki, Yutaka; Yamada, Yoshiji; Fuku, Noriyuki; Matsuo, Hitoshi; Segawa, Tomio; Watanabe, Soichi; Kato, Koichi; Yokoi, Kiyoshi; Yamaguchi, Sachiyo; Nozawa, Yoshinori; Tanaka, Masashi

doi:10.1016/j.mito.2006.11.002

Cited by 36 publications

(33 citation statements)

References 20 publications

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“…19,37 In another Japanese study, haplogroup A (defined by polymorphism at position mt663) has been suggested to be associated with increased risk of atherothrombotic cerebral infarction in women (odds ratio [95% CI], 2.1 [1.0 to 4.2]; 112 cases/328 controls) but not in men (234 cases/407 controls). 18 In the present study, we did not find any associations between the 8 common haplogroups examined or any of the 6 polymorphisms defining these haplogroups and risk of ischemic cardiovascular disease, even when we further subdivided the diagnostic group into ischemic heart disease, myocardial infarction, ischemic cerebrovascular disease, and ischemic stroke. In the present study, we have 80% power to exclude a hazard ratio of Ն1.1 or Յ0.8 (ie, protective) for risk of ischemic heart disease and 1.3 and 0.7 for ischemic cerebrovascular disease for the 4 most common haplogroups H, U, T, and J (80% of the population), equivalent to the odds ratios found in previous studies.…”

Section: Discussioncontrasting

confidence: 65%

“…In the present study, we have 80% power to exclude a hazard ratio of Ն1.1 or Յ0.8 (ie, protective) for risk of ischemic heart disease and 1.3 and 0.7 for ischemic cerebrovascular disease for the 4 most common haplogroups H, U, T, and J (80% of the population), equivalent to the odds ratios found in previous studies. 18,19 Several haplogroups or polymorphisms have been associated with risk of cancer in case-control studies. The mt10398aϾg polymorphism present in European haplogroups J, K, and Z has been associated with increased risk of invasive breast cancer in black women (48 cases/54 controls and validated in 654 cases/ 605 controls) but not in white women (879 cases/760 controls).…”

Section: Discussionmentioning

confidence: 99%

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Mitochondrial Haplogroups

et al. 2008

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Background-Rare mutations in the mitochondrial genome may cause disease. Mitochondrial haplogroups defined by common polymorphisms have been associated with risk of disease and longevity. We tested the hypothesis that common haplogroups predict risk of ischemic cardiovascular disease, morbidity from other causes, mortality, and longevity in a general population of European descent. Methods and Results-We followed 9254 individuals from the Danish general population, in the Copenhagen City Heart Study, prospectively for risk of ischemic cardiovascular disease, morbidity from other causes, and mortality during 25 and 11 years, respectively. Haplogroup frequencies were as follows: H (45.9%), U (15.9%), T (9.9%), J (9.1), K (6.2%), V (4.5%), W/I (3.8%), and Z (3.5%). Hazard ratios for hospitalization due to all cardiovascular disorders (haplogroup U . Finally, after stratification by major causes of death, hazard ratios remained insignificant. Conclusions-Our results do not support an association of mitochondrial haplogroups with risk of ischemic cardiovascular disease, morbidity from other causes, mortality, or longevity in a large general population of European descent.:

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Section: Discussioncontrasting

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Mitochondrial Haplogroups

et al. 2008

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“…shtml) and recent reports. [16][17][18][19] Consequently, it is also necessary to distinguish pathogenic mtDNA mutations from mtSNPs.…”

Section: Introductionmentioning

confidence: 99%

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

et al. 2010

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Sensorineural hearing loss (HL) is one of the most frequent clinical features in patients with mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, and hearing is impaired in over half of all cases with mitochondrial disorders. This study analyzed 373 patients with suspected hereditary HL using an extensive and rapid suspension-array screening system for 29 major mtDNA mutations, including the m.1555A4G homoplasmic mutation in the MT-RNR1 gene, which causes non-syndromic sensorineural HL and aminoglycoside-induced HL, and the m.3243A4G heteroplasmic mutation in the MT-TL1 gene. This method is rapid and suitable for large-scale screening because universal 96-well plates are available for use, and because an analysis of each plate can be completed within 1 h. This system detected five different mtDNA mutations in 24 of the 373 (6.4%) patients. The m.1555A4G and m.3243A4G mutations were detected in 11 (2.9%) and 9 (2.7%) patients, respectively. In addition, three mutations, that is, m.8348A4G in the MT-TK gene, m.11778G4A in the MT-ND4 gene and 15498G4A in the MT-CYB gene were detected in one patient for each. This screening system is useful for the genetic diagnosis and epidemiological study of both syndromic and non-syndromic HL.

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“…Haplogroup, population-specific mtDNA lineages, was first initiated to trace back origins of different races and reconstruct ancient migration of women. 22 Recently, the mtDNA lineages were reported more prone to specific symptoms of diseases, including atherothrombotic cerebral infarction, 23 type-2 diabetes 24 and obesity. 24 Meanwhile, haplogroups were found to protect individuals against myocardial infarction and attain longevity.…”

Section: Discussionmentioning

confidence: 99%

“…30 Otherwise, continent-specific mtDNA variants were prone to different diseases as described earlier. 23,24,31 Thus, investigations on the synergistic interaction between mtSNPs and/or specific mtDNA lineages have been advocated by geneticists to date. 22 In conclusion, mtSNPs in haplogroups M and D may affect the course of hypertension in sporadic Chinese hypertensives.…”

Section: Discussionmentioning

confidence: 99%

The role of mitochondrial genome in essential hypertension in a Chinese Han population

et al. 2009

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Earlier genetic studies of essential hypertension have focused on nuclear genes or family-based mitochondrial screening in Caucasian and African-American pedigrees. The role of mitochondria in sporadic Chinese hypertensives is unknown. We sequenced mitochondrial genomes in 306 age-and gender-balanced Chinese Han hypertensives and controls. In 153 hypertensives, putative functional changes included 4 changes in rRNA genes, 11 changes in tRNA genes and 25 amino-acid substitutions. The remaining variants were synonymous changes or non-coding regions. In the 153 controls, 2 base changes in the tRNA genes and 13 amino-acid substitutions were found. A8701G in ATP6 gene (belongs to haplogroup M; P ¼ 0.0001) and C8414T in ATP8 gene (belongs to haplogroup D; P ¼ 0.01) were detected significantly different in the cases and controls. Interestingly, the cases were more likely to have two or more amino-acid changes and RNA variants compared with the controls (57.43 versus 23.81%, P ¼ 0.0001). In addition, several variants we found were highly conserved and/or specifically located at the 3 0 end adjacent to the anticodon, which may contribute to the stabilization of structure, and thus lead to the decrease of tRNA metabolism. In conclusion, mitochondrial SNPs (mtSNPs) may affect the course of hypertension in sporadic Chinese hypertensives. Some specific mtSNP within mitochondria may have potential role in the Chinese hypertensives due to their function. Synergetic interaction between mitochondrial mtSNPs and/or haplogroups is needed to be investigated in the future.

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Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females

Cited by 36 publications

References 20 publications

Mitochondrial Haplogroups

Mitochondrial Haplogroups

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

The role of mitochondrial genome in essential hypertension in a Chinese Han population

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