A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians

Diabetologia

Volumn 51, Issue 4, 2008, Pages 602-608

  Park, K S ^a,b   Chan, J C ^c   Chuang, L M ^d   Suzuki, S ^e   Araki, E ^f   Nanjo, K ^g   Ji, L ^h   Ng, M ^c   Nishi, M ^g   Furuta, H ^g   Shirotani, T ^f   Ahn, B Y ^a,b   Chung, S S ^a,b   Min, H K ⁱ   Lee, S W ⁱ   Kim, J H ^a,b   Cho, Y M ^a,b   Lee, H K ^a  

^a Seoul National University College of Medicine   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^e TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f KUMAMOTO UNIVERSITY   (Japan)

^g WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^h PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

ⁱ Korea University   (South Korea)

Author keywords

16189 Variant; Asian; Mitochondrial DNA; Mitochondrial single stranded DNA binding protein; Polymorphism; Type 2 diabetes

Indexed keywords

MITOCHONDRIAL DNA; SINGLE STRANDED DNA BINDING PROTEIN;

ADULT; AFFINITY CHROMATOGRAPHY; AGED; ARTICLE; ASIAN; BINDING AFFINITY; CHINA; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; DNA POLYMORPHISM; DNA REPLICATION ORIGIN; ENVIRONMENTAL FACTOR; ETHNIC DIFFERENCE; FEMALE; GENOME; HONG KONG; HUMAN; INSULIN RESISTANCE; JAPAN; KOREA; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PRIORITY JOURNAL; REVERSED PHASE LIQUID CHROMATOGRAPHY; TAIWAN; TANDEM MASS SPECTROMETRY;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DIABETES MELLITUS, TYPE 2; DNA PRIMERS; DNA, MITOCHONDRIAL; HUMANS; JAPAN; KOREA; POLYMORPHISM, SINGLE NUCLEOTIDE; TAIWAN; VARIATION (GENETICS);

EID: 41149151670     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-008-0933-z     Document Type: Article

References (27)

1. Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI (2004) Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes. N Engl J Med 350:664-671
2. Maassen JA, 't Hart LM, Van Essen E et al (2004) Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53(Suppl 1):S103-S109
3. Wilson FH, Hariri A, Farhi A et al (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 306:1190-1194
4. Poulton J, Brown MS, Cooper A, Marchington DR, Phillips DI (1998) A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 41:54-58
5. Poulton J, Luan J, Macaulay V, Hennings S, Mitchell J, Wareham NJ (2002) Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Mol Genet 11:1581-1583
6. Kim JH, Park KS, Cho YM et al (2002) The prevalence of the mitochondrial DNA 16189 variant in non-diabetic Korean adults and its association with higher fasting glucose and body mass index. Diabet Med 19:681-684
7. Tang DL, Zhou X, Li X, Zhao L, Liu F (2006) Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. Diabetes Res Clin Pract 73:77-82
8. Momiyama Y, Furutani M, Suzuki Y et al (2003) A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes. Biochem Biophys Res Commun 312:858-864
9. Liou CW, Lin TK, Huei Weng H et al (2007) A common mitochondrial DNA variant and increased body mass index as associated factors for development of type 2 diabetes: additive effects of genetic and environmental factors. J Clin Endocrinol Metab 92:235-239
10. Chinnery PF, Elliott HR, Patel S et al (2005) Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet 366:1650-1651
11. Tanaka M, Cabrera VM, Gonzalez AM et al (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:1832-1850
12. Alberti KG, Zimmet PZ (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med 15:539-553
13. Choi YS, Ryu BK, Min HK, Lee SW, Pak YK (2005) Analysis of proteome bound to D-loop region of mitochondrial DNA by DNA-linked affinity chromatography and reverse-phase liquid chromatography/tandem mass spectrometry. Ann N Y Acad Sci 1042:88-100
14. Kim M-S, Choie W-S, Shin YS, Yu M-H, Lee S-W (2004) Development of ultra-high pressure capillary reverse-phase liquid chromatography/tandem mass spectrometry for high-sensitive and high-throughput proteomics. Bull Korean Chem Soc 25:1833-1839
15. Chomyn A (1996) Platelet-mediated transformation of human mitochondrial DNA-less cells. Methods Enzymol 264:334-339
16. Orlando V (2000) Mapping chromosomal proteins in vivo by formaldehyde-crosslinked-chromatin immunoprecipitation. Trends Biochem Sci 25:99-104
17. Borenstein MHL, Higgins J, Rothstein H (2005) Comprehensive meta-analysis, version 2. Biostat, Englewood
18. Hatchell EC, Colley SM, Beveridge DJ et al (2006) SLIRP, a small SRA binding protein, is a nuclear receptor corepressor. Mol Cell 22:657-668
19. Takamatsu C, Umeda S, Ohsato T et al (2002) Regulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding protein. EMBO Rep 3:451-456
20. Yasukawa T, Yang MY, Jacobs HT, Holt IJ (2005) A bidirectional origin of replication maps to the major noncoding region of human mitochondrial DNA. Mol Cell 18:651-662
21. Cho YM, Park KS, Lee HK (2007) Genetic factors related to mitochondrial function and risk of diabetes mellitus. Diabetes Res Clin Pract 77(Suppl 1):S172-S177
22. Pravenec M, Hyakukoku M, Houstek J et al (2007) Direct linkage of mitochondrial genome variation to risk factors for type 2 diabetes in conplastic strains. Genome Res 17:1319-1326
23. Fish J, Raule N, Attardi G (2004) Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis. Science 306:2098-2101
24. Fuku N, Park KS, Yamada Y et al (2007) Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet 80:407-415
25. Brown MD, Starikovskaya E, Derbeneva O et al (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet 110:130-138
26. Malik S, Sudoyo H, Pramoonjago P et al (2002) Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA. Hum Genet 110:402-411
27. Munafo MR, Flint J (2004) Meta-analysis of genetic association studies. Trends Genet 20:439-444