The inheritebasis odiabetes mellitus: Implications for the genetic analysis of complex traits

被引:211
作者
Florez, JC [1 ]
Hirschhorn, J
Altshuler, D
机构
[1] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA
[2] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA
[3] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
[4] Harvard Univ, Sch Med, Dept Med, Boston, MA 02114 USA
[5] Whitehead MIT Ctr Genome Res, Program Med & Populat Genet, Cambridge, MA 02139 USA
[6] Childrens Hosp, Div Genet, Boston, MA 02114 USA
[7] Childrens Hosp, Div Endocrinol, Boston, MA 02114 USA
[8] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02114 USA
关键词
D O I
10.1146/annurev.genom.4.070802.110436
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Diabetes encompasses a heterogeneous group of diseases, each with a substantial genetic component. We review the division of diabetes into different subtypes based on clinical phenotype, the fruitful pursuit of genes underlying monogenic forms of the disease, the successes and drawbacks of whole-genome linkage scans in type 1 and type 2 diabetes, and the recent identification of several diabetes genes by large association studies. We use the lessons learned from this extensive body of evidence to illustrate general implications for the genetic analysis of complex traits.
引用
收藏
页码:257 / 291
页数:35
相关论文
共 196 条
[1]   An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains [J].
Aaltonen, J ;
Bjorses, P ;
Perheentupa, J ;
HorelliKuitunen, N ;
Palotie, A ;
Peltonen, L ;
Lee, YS ;
Francis, F ;
Hennig, S ;
Thiel, C ;
Lehrach, H ;
Yaspo, ML .
NATURE GENETICS, 1997, 17 (04) :399-403
[2]   AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34 [J].
Agarwal, AK ;
Arioglu, E ;
de Almeida, S ;
Akkoc, N ;
Taylor, SI ;
Bowcock, AM ;
Barnes, RI ;
Garg, A .
NATURE GENETICS, 2002, 31 (01) :21-23
[3]   Guilt by association [J].
Altshuler, D ;
Daly, M ;
Kruglyak, L .
NATURE GENETICS, 2000, 26 (02) :135-137
[4]   The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes [J].
Altshuler, D ;
Hirschhorn, JN ;
Klannemark, M ;
Lindgren, CM ;
Vohl, MC ;
Nemesh, J ;
Lane, CR ;
Schaffner, SF ;
Bolk, S ;
Brewer, C ;
Tuomi, T ;
Gaudet, D ;
Hudson, TJ ;
Daly, M ;
Groop, L ;
Lander, ES .
NATURE GENETICS, 2000, 26 (01) :76-80
[5]   Projection of an immunological self shadow within the thymus by the aire protein [J].
Anderson, MS ;
Venanzi, ES ;
Klein, L ;
Chen, ZB ;
Berzins, SP ;
Turley, SJ ;
von Boehmer, H ;
Bronson, R ;
Dierich, A ;
Benoist, C ;
Mathis, D .
SCIENCE, 2002, 298 (5597) :1395-1401
[6]   Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion [J].
Ardlie, K ;
Liu-Cordero, SN ;
Eberle, MA ;
Daly, M ;
Barrett, J ;
Winchester, E ;
Lander, ES ;
Kruglyak, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (03) :582-589
[7]   Testing for population subdivision and association in four case-control studies [J].
Ardlie, KG ;
Lunetta, KL ;
Seielstad, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :304-311
[8]   A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance [J].
Baier, LJ ;
Permana, PA ;
Yang, XL ;
Pratley, RE ;
Hanson, RL ;
Shen, GQ ;
Mott, D ;
Knowler, WC ;
Cox, NJ ;
Horikawa, Y ;
Oda, N ;
Bell, GI ;
Bogardus, C .
JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (07) :R69-R73
[9]   DIABETES IN IDENTICAL-TWINS - A STUDY OF 200 PAIRS [J].
BARNETT, AH ;
EFF, C ;
LESLIE, RDG ;
PYKE, DA .
DIABETOLOGIA, 1981, 20 (02) :87-93
[10]   NEURODEGENERATION AND DIABETES - UK NATIONWIDE STUDY OF WOLFRAM (DIDMOAD) SYNDROME [J].
BARRETT, TG ;
BUNDEY, SE ;
MACLEOD, AF .
LANCET, 1995, 346 (8988) :1458-1463