A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese

1. ZimmetP

AlbertiKG

ShawJ

2001 Global and societal implications of the diabetes epidemic. Nature 414 782 787

2. StumvollM

GoldsteinBJ

van HaeftenTW

2005 Type 2 diabetes: principles of pathogenesis and therapy. Lancet 365 1333 1346

3. LedermannHM

1995 Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed? Diabetologia 38 1482

4. MaassenJA

LMTH

Van EssenE

HeineRJ

NijpelsG

2004 Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53 Suppl 1 S103 109

5. FajansSS

BellGI

PolonskyKS

2001 Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345 971 980

6. MooreAF

FlorezJC

2008 Genetic susceptibility to type 2 diabetes and implications for antidiabetic therapy. Annu Rev Med 59 95 111

7. LangefeldCD

WagenknechtLE

RotterJI

WilliamsAH

HokansonJE

2004 Linkage of the metabolic syndrome to 1q23-q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family Study. Diabetes 53 1170 1174

8. HansonRL

EhmMG

PettittDJ

ProchazkaM

ThompsonDB

1998 An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians. Am J Hum Genet 63 1130 1138

9. ElbeinSC

HoffmanMD

TengK

LeppertMF

HasstedtSJ

1999 A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians. Diabetes 48 1175 1182

10. VionnetN

HaniEH

DupontS

GallinaS

FranckeS

2000 Genomewide search for type 2 diabetes-susceptibility genes in French whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24. Am J Hum Genet 67 1470 1480

11. AnP

HongY

WeisnagelSJ

RiceT

RankinenT

2003 Genomic scan of glucose and insulin metabolism phenotypes: the HERITAGE Family Study. Metabolism 52 246 253

12. WiltshireS

HattersleyAT

HitmanGA

WalkerM

LevyJC

2001 A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet 69 553 569

13. HsuehWC

St JeanPL

MitchellBD

PollinTI

KnowlerWC

2003 Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24. Diabetes 52 550 557

14. BowdenDW

SaleM

HowardTD

QadriA

SprayBJ

1997 Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 46 882 886

15. XiangK

WangY

ZhengT

JiaW

LiJ

2004 Genome-wide search for type 2 diabetes/impaired glucose homeostasis susceptibility genes in the Chinese: significant linkage to chromosome 6q21-q23 and chromosome 1q21-q24. Diabetes 53 228 234

16. JiL

MaleckiM

WarramJH

YangY

RichSS

1997 New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 46 876 881

17. ZoualiH

HaniEH

PhilippiA

VionnetN

BeckmannJS

1997 A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum Mol Genet 6 1401 1408

18. GhoshS

WatanabeRM

HauserER

ValleT

MagnusonVL

1999 Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci U S A 96 2198 2203

19. KlupaT

MaleckiMT

PezzolesiM

JiL

CurtisS

2000 Further evidence for a susceptibility locus for type 2 diabetes on chromosome 20q13.1-q13.2. Diabetes 49 2212 2216

20. AltshulerD

HirschhornJN

KlannemarkM

LindgrenCM

VohlMC

2000 The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26 76 80

21. FlorezJC

BurttN

de BakkerPI

AlmgrenP

TuomiT

2004 Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 53 1360 1368

22. GloynAL

WeedonMN

OwenKR

TurnerMJ

KnightBA

2003 Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 52 568 572

23. NielsenEM

HansenL

CarstensenB

EchwaldSM

DrivsholmT

2003 The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 52 573 577

24. GudmundssonJ

SulemP

SteinthorsdottirV

BergthorssonJT

ThorleifssonG

2007 Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 39 977 983

25. WincklerW

WeedonMN

GrahamRR

McCarrollSA

PurcellS

2007 Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 56 685 693

26. SandhuMS

WeedonMN

FawcettKA

WassonJ

DebenhamSL

2007 Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 39 951 953

27. ScottLJ

MohlkeKL

BonnycastleLL

WillerCJ

LiY

2007 A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316 1341 1345

28. YasudaK

MiyakeK

HorikawaY

HaraK

OsawaH

2008 Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet 40 1092 1097

29. UnokiH

TakahashiA

KawaguchiT

HaraK

HorikoshiM

2008 SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet 40 1098 1102

30. SteinthorsdottirV

ThorleifssonG

ReynisdottirI

BenediktssonR

JonsdottirT

2007 A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 39 770 775

31. 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447 661 678

32. SaxenaR

VoightBF

LyssenkoV

BurttNP

de BakkerPI

2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316 1331 1336

33. ZegginiE

WeedonMN

LindgrenCM

FraylingTM

ElliottKS

2007 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316 1336 1341

34. ZegginiE

ScottLJ

SaxenaR

VoightBF

MarchiniJL

2008 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 40 638 645

35. Bouatia-NajiN

BonnefondA

Cavalcanti-ProencaC

SparsoT

HolmkvistJ

2009 A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nat Genet 41 89 94

36. LyssenkoV

NagornyCL

ErdosMR

WierupN

JonssonA

2009 Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet 41 82 88

37. ProkopenkoI

LangenbergC

FlorezJC

SaxenaR

SoranzoN

2009 Variants in MTNR1B influence fasting glucose levels. Nat Genet 41 77 81

38. SladekR

RocheleauG

RungJ

DinaC

ShenL

2007 A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445 881 885

39. GrantSF

ThorleifssonG

ReynisdottirI

BenediktssonR

ManolescuA

2006 Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 38 320 323

40. TakeuchiF

SerizawaM

YamamotoK

FujisawaT

NakashimaE

2009 Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. Diabetes 58 1690 1699

41. OmoriS

TanakaY

TakahashiA

HiroseH

KashiwagiA

2008 Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes 57 791 795

42. HuC

WangC

ZhangR

MaX

WangJ

2009 Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population. Diabetologia 52 1322 1325

43. WuY

LiH

LoosRJ

YuZ

YeX

2008 Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Diabetes 57 2834 2842

44. ChangYC

ChangTJ

JiangYD

KuoSS

LeeKC

2007 Association study of the genetic polymorphisms of the transcription factor 7-like 2 (TCF7L2) gene and type 2 diabetes in the Chinese population. Diabetes 56 2631 2637

45. RonnT

WenJ

YangZ

LuB

DuY

2009 A common variant in MTNR1B, encoding melatonin receptor 1B, is associated with type 2 diabetes and fasting plasma glucose in Han Chinese individuals. Diabetologia 52 830 833

46. WangC

HuC

ZhangR

BaoY

MaX

2009 Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population. Diabetes 58 1023 1027

47. ZhouD

ZhangD

LiuY

ZhaoT

ChenZ

2009 The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population. J Hum Genet 54 433 435

48. PurcellS

NealeB

Todd-BrownK

ThomasL

FerreiraMA

2007 PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 559 575

49. RenJM

LiPM

ZhangWR

SweetLJ

ClineG

1998 Transgenic mice deficient in the LAR protein-tyrosine phosphatase exhibit profound defects in glucose homeostasis. Diabetes 47 493 497

50. ChagnonMJ

ElcheblyM

UetaniN

DombrowskiL

ChengA

2006 Altered glucose homeostasis in mice lacking the receptor protein tyrosine phosphatase sigma. Can J Physiol Pharmacol 84 755 763

51. BattJ

AsaS

FladdC

RotinD

2002 Pituitary, pancreatic and gut neuroendocrine defects in protein tyrosine phosphatase-sigma-deficient mice. Mol Endocrinol 16 155 169

52. WrightS

1951 The genetical structure of populations. Annals of Eugenics 15 323 354

53. UetaniN

KatoK

OguraH

MizunoK

KawanoK

2000 Impaired learning with enhanced hippocampal long-term potentiation in PTPdelta-deficient mice. Embo J 19 2775 2785

54. PulidoR

Serra-PagesC

TangM

StreuliM

1995 The LAR/PTP delta/PTP sigma subfamily of transmembrane protein-tyrosine-phosphatases: multiple human LAR, PTP delta, and PTP sigma isoforms are expressed in a tissue-specific manner and associate with the LAR-interacting protein LIP.1. Proc Natl Acad Sci U S A 92 11686 11690

55. SatoM

TakahashiK

NagayamaK

AraiY

ItoN

2005 Identification of chromosome arm 9p as the most frequent target of homozygous deletions in lung cancer. Genes Chromosomes Cancer 44 405 414

56. ChagnonMJ

UetaniN

TremblayML

2004 Functional significance of the LAR receptor protein tyrosine phosphatase family in development and diseases. Biochem Cell Biol 82 664 675

57. ZabolotnyJM

KimYB

PeroniOD

KimJK

PaniMA

2001 Overexpression of the LAR (leukocyte antigen-related) protein-tyrosine phosphatase in muscle causes insulin resistance. Proc Natl Acad Sci U S A 98 5187 5192

58. WoloskerH

BlackshawS

SnyderSH

1999 Serine racemase: a glial enzyme synthesizing D-serine to regulate glutamate-N-methyl-D-aspartate neurotransmission. Proc Natl Acad Sci U S A 96 13409 13414

59. WoloskerH

ShethKN

TakahashiM

MothetJP

BradyROJr

1999 Purification of serine racemase: biosynthesis of the neuromodulator D-serine. Proc Natl Acad Sci U S A 96 721 725

60. De MirandaJ

PanizzuttiR

FoltynVN

WoloskerH

2002 Cofactors of serine racemase that physiologically stimulate the synthesis of the N-methyl-D-aspartate (NMDA) receptor coagonist D-serine. Proc Natl Acad Sci U S A 99 14542 14547

61. MothetJP

ParentAT

WoloskerH

BradyROJr

LindenDJ

2000 D-serine is an endogenous ligand for the glycine site of the N-methyl-D-aspartate receptor. Proc Natl Acad Sci U S A 97 4926 4931

62. WoloskerH

DuminE

BalanL

FoltynVN

2008 D-amino acids in the brain: D-serine in neurotransmission and neurodegeneration. Febs J 275 3514 3526

63. ImaiK

FukushimaT

SantaT

HommaH

HuangY

1998 Whole body autoradiographic study on the distribution of 14C-D-serine administered intravenously to rats. Amino Acids 15 351 361

64. GonoiT

MizunoN

InagakiN

KuromiH

SeinoY

1994 Functional neuronal ionotropic glutamate receptors are expressed in the non-neuronal cell line MIN6. J Biol Chem 269 16989 16992

65. InagakiN

KuromiH

GonoiT

OkamotoY

IshidaH

1995 Expression and role of ionotropic glutamate receptors in pancreatic islet cells. Faseb J 9 686 691

66. BertrandG

GrossR

PuechR

Loubatieres-MarianiMM

BockaertJ

1993 Glutamate stimulates glucagon secretion via an excitatory amino acid receptor of the AMPA subtype in rat pancreas. Eur J Pharmacol 237 45 50

67. BednarekAK

LaflinKJ

DanielRL

LiaoQ

HawkinsKA

2000 WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer. Cancer Res 60 2140 2145

68. RiedK

FinnisM

HobsonL

MangelsdorfM

DayanS

2000 Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Hum Mol Genet 9 1651 1663

69. IliopoulosD

GulerG

HanSY

JohnstonD

DruckT

2005 Fragile genes as biomarkers: epigenetic control of WWOX and FHIT in lung, breast and bladder cancer. Oncogene 24 1625 1633

70. KurokiT

YendamuriS

TrapassoF

MatsuyamaA

AqeilanRI

2004 The tumor suppressor gene WWOX at FRA16D is involved in pancreatic carcinogenesis. Clin Cancer Res 10 2459 2465

71. PaigeAJ

TaylorKJ

TaylorC

HillierSG

FarringtonS

2001 WWOX: a candidate tumor suppressor gene involved in multiple tumor types. Proc Natl Acad Sci U S A 98 11417 11422

72. KurokiT

TrapassoF

ShiraishiT

AlderH

MimoriK

2002 Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma. Cancer Res 62 2258 2260

73. YendamuriS

KurokiT

TrapassoF

HenryAC

DumonKR

2003 WW domain containing oxidoreductase gene expression is altered in non-small cell lung cancer. Cancer Res 63 878 881

74. SakaiM

ImakiJ

YoshidaK

OgataA

Matsushima-HibayaY

1997 Rat maf related genes: specific expression in chondrocytes, lens and spinal cord. Oncogene 14 745 750

75. KimJI

LiT

HoIC

GrusbyMJ

GlimcherLH

1999 Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development. Proc Natl Acad Sci U S A 96 3781 3785

76. ImakiJ

TsuchiyaK

MishimaT

OnoderaH

KimJI

2004 Developmental contribution of c-maf in the kidney: distribution and developmental study of c-maf mRNA in normal mice kidney and histological study of c-maf knockout mice kidney and liver. Biochem Biophys Res Commun 320 1323 1327

77. AgnelloD

LankfordCS

BreamJ

MorinobuA

GadinaM

2003 Cytokines and transcription factors that regulate T helper cell differentiation: new players and new insights. J Clin Immunol 23 147 161

78. SerriaMS

IkedaH

OmoteyamaK

HirokawaJ

NishiS

2003 Regulation and differential expression of the c-maf gene in differentiating cultured cells. Biochem Biophys Res Commun 310 318 326

79. TsuchiyaM

TaniguchiS

YasudaK

NittaK

MaedaA

2006 Potential roles of large mafs in cell lineages and developing pancreas. Pancreas 32 408 416

80. KataokaK

ShiodaS

AndoK

SakagamiK

HandaH

2004 Differentially expressed Maf family transcription factors, c-Maf and MafA, activate glucagon and insulin gene expression in pancreatic islet alpha- and beta-cells. J Mol Endocrinol 32 9 20

81. GosmainY

AvrilI

MaminA

PhilippeJ

2007 Pax-6 and c-Maf functionally interact with the alpha-cell-specific DNA element G1 in vivo to promote glucagon gene expression. J Biol Chem 282 35024 35034

82. MeyreD

DelplanqueJ

ChevreJC

LecoeurC

LobbensS

2009 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet 41 157 159

83. SanguinettiMC

CurranME

ZouA

ShenJ

SpectorPS

1996 Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384 80 83

84. BarhaninJ

LesageF

GuillemareE

FinkM

LazdunskiM

1996 K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 384 78 80

85. NeyroudN

TessonF

DenjoyI

LeiboviciM

DongerC

1997 A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15 186 189

86. WangQ

CurranME

SplawskiI

BurnTC

MillhollandJM

1996 Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12 17 23

87. ChenYH

XuSJ

BendahhouS

WangXL

WangY

2003 KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299 251 254

88. LeeMP

RavenelJD

HuRJ

LustigLR

TomaselliG

2000 Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest 106 1447 1455

89. DemolombeS

FrancoD

de BoerP

KuperschmidtS

RodenD

2001 Differential expression of KvLQT1 and its regulator IsK in mouse epithelia. Am J Physiol Cell Physiol 280 C359 372

90. ChouabeC

NeyroudN

GuicheneyP

LazdunskiM

RomeyG

1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. Embo J 16 5472 5479

91. UllrichS

SuJ

RantaF

WittekindtOH

RisF

2005 Effects of I(Ks) channel inhibitors in insulin-secreting INS-1 cells. Pflugers Arch 451 428 436

92. CasimiroMC

KnollmannBC

EbertSN

VaryJCJr

GreeneAE

2001 Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. Proc Natl Acad Sci U S A 98 2526 2531

93. BoiniKM

GrafD

HennigeAM

KokaS

KempeDS

2009 Enhanced insulin sensitivity of gene-targeted mice lacking functional KCNQ1. Am J Physiol Regul Integr Comp Physiol 296 R1695 1701

94. PanWH

FannCS

WuJY

HungYT

HoMS

2006 Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. HumHered 61 27 30