Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls

被引：49

作者：

Chinnery, P. F.

Mowbray, C.

Patel, S. K.

Elson, J. L.

Sampson, M.

Hitman, G. A.

McCarthy, M. I.

Hattersley, A. T.

Walker, M.

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Univ Newcastle, Diabet Res Grp, Newcastle Upon Tyne, Tyne & Wear, England

[3] Norfolk & Norwich Hosp, Dept Endocrinol & Diabet, Norwich NR1 3SR, Norfolk, England

[4] Barts & London Queen Marys Sch Med & Dent, Ctr Diabet & Metabol Med, London, England

[5] Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[6] Peninsula Med Sch, Ctr Genet Mol, Exeter, Devon, England

来源：

JOURNAL OF MEDICAL GENETICS | 2007年 / 44卷 / 06期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1136/jmg.2007.048876

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA ( mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disorder. Recent studies have produced conflicting results. By studying 897 UK cases of type 2 diabetes and 1010 population- matched controls, it is shown that European mtDNA haplogroups are unlikely to play a major role in the risk of developing the disorder.

引用

页数：3

共 9 条

[1] Mitochondrial DNA and survival after sepsis: a prospective study [J].

Baudouin, SV ;

Saunders, D ;

Tiangyou, W ;

Elson, JL ;

Poynter, J ;

Pyle, A ;

Keers, S ;

Turnbull, DM ;

Howell, N ;

Chinnery, PF .

LANCET, 2005, 366 (9503) :2118-2121

[2] Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes [J].

Chinnery, PF ;

Elliott, HR ;

Patel, S ;

Lambert, C ;

Keers, SM ;

Durham, SE ;

McCarthy, MI ;

Hitman, GA ;

Hattersley, AT ;

Walker, M .

LANCET, 2005, 366 (9497) :1650-1651

[3] The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes:: An analysis of the m.4216T > c and m.4917A > g variants [J].

Crispim, D. ;

Canani, L. H. ;

Gross, J. L. ;

Tschiedel, B. ;

Souto, K. E. P. ;

Roisenberg, I. .

ANNALS OF HUMAN GENETICS, 2006, 70 :488-495

[4] Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants [J].

Moreno-Loshuertos, Raquel ;

Acin-Perez, Rebeca ;

Fernandez-Silva, Patricio ;

Movilla, Nieves ;

Perez-Martos, Acisclo ;

de Cordoba, Santiago Rodriguez ;

Gallardo, M. Esther ;

Enriquez, Jose Antonio .

NATURE GENETICS, 2006, 38 (11) :1261-1268

[5] Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study [J].

Poulton, J ;

Luan, J ;

Macaulay, V ;

Hennings, S ;

Mitchell, J ;

Wareham, NJ .

HUMAN MOLECULAR GENETICS, 2002, 11 (13) :1581-1583

[6] The power to detect disease associations with mitochondrial DNA haplogroups [J].

Samuels, DC ;

Carothers, AD ;

Horton, R ;

Chinnery, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (04) :713-720

[7] Comprehensive association testing of common mitochondrial DNA variation in metabolic disease [J].

Saxena, Richa ;

de Bakker, Paul I. W. ;

Singer, Karyn ;

Mootha, Vamsi ;

Burtt, Noel ;

Hirschhorn, Joel N. ;

Gaudet, Daniel ;

Isomaa, Bo ;

Daly, Mark J. ;

Groop, Leif ;

Ardlie, Kristin G. ;

Altshuler, David .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (01) :54-61

[8]

Torroni A, 1997, AM J HUM GENET, V60, P1107

[9] A genomewide scan for loci predisposing to type 2 diabetes in a UK population (the Diabetes UK Warren 2 repository): Analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q [J].

Wiltshire, S ;

Hattersley, AT ;

Hitman, GA ;

Walker, M ;

Levy, JC ;

Sampson, M ;

O'Rahilly, S ;

Frayling, TM ;

Bell, JI ;

Lathrop, GM ;

Bennett, A ;

Dhillon, R ;

Fletcher, C ;

Groves, CJ ;

Jones, E ;

Prestwich, P ;

Simecek, N ;

Rao, PVS ;

Wishart, M ;

Foxon, R ;

Howell, S ;

Smedley, D ;

Cardon, LR ;

Menzel, S ;

McCarthy, MI .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (03) :553-569

← 1 →