References for Online Appendix

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Online Appendix:

1. Loci identified using variance components methods (LOD>2.0) in Pima Indians.

Trait Chrom.

Young-Onset T2DM

Respiratory Quotient

HDL-Cholesterol

Leptin

1

1

3

6

Young-Onset T2DM

2-Hour Insulin after OGTT

7

9

Body Mass Index 11

Parent of Origin affect on Birth Weight 11

Percent Fat

Total Cholesterol

Insulin Action

Fasting Glucose

18

19

22

22 cM

170

105

181

54

54

0

0

46

120

99

139

88

LOD Reference

2.5

2.8

2.6

2.1

2.0

2.2

3.6

3.4

2.3

3.9

2.1

2.4

1

2

3

4

2

3

5

5

1

5

1

6

2. Genes analyzed as positional candidates for linkage in Pima Indians.

Chromosome 1q21-24 (Young Onset T2DM)

Gene Reference

ENSA

IL6R

PTGS2

MGST3

PLA2G4A

CRP

PRKAB2

KCNJ9

KCNJ10

LMX1A

INSRR

LMNA

PEA15

MTG8

SLC19A2

PBX1

PKLR

RXRG

MGST3

13

14

15

16

17

18

7

8

9

10

11

12

19

20

21

22 unpublished unpublished unpublished

GRIK4

SC5DL

ZNF202

SP17

NRGN

BCSC

TBRG1

PANX3

CTH

PKNOX2

FEZ

SP10

PIG8

NEPH-2

ETS-1

FLI1

KCNJ1

KCNJ5

KIAA 0712

BARX2

NFRKB

APLP2

HNT

OPCML

B3GAT1

Chromosome 11q23-24 (Body Mass Index)

Gene

DRD2

ORP150

NCAM

PLZF

NNMT

Reference

23

24 unpublished unpublished unpublished

IGS4

ZNF259

APOA1

APOA3

APOA4

APOA5 unpublished unpublished unpublished unpublished unpublished unpublished

TAGLN

PCSK7

ARCN1

CBL2

C1Q TNF

THY1

ARHGEF12 unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished unpublished

2

Chromosome 7q (Young Onset T2DM)

Gene Reference

PPP1R3 25

Chromosome 19p (Total serum cholesterol)

Gene Reference

LDLR unpublished

Chromosome 11p (Parent of origin effect on birth weight)

Gene

INS

Reference

26

References for Online Appendix

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Foroud T, Kobes S, Baier L, Burns DK, Almasy L, Blangero J, Garvey WT, Bennett

PH, Knowler WC: 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,

1998.

2.

Norman RA, Tataranni PA, Pratley R, Thompson DB, Hanson RL, Prochazka M,

Baier L, Ehm MG, Sakul H, Foroud T, Garvey WT, Burns D, Knowler WC, Bennett

PH, Bogardus C, Ravussin E. Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians. Am J Hum Genet. 62: 659-68, 1998.

3. Imperatore G, Knowler WC, Pettitt DJ, Kobes S, Fuller JH, Bennett PH, Hanson RL.

A locus influencing total serum cholesterol on chromosome 19p: results from an autosomal genomic scan of serum lipid concentrations in Pima Indians. Arterioscler

Thromb Vasc Biol. 20: 2651-6, 2000.

4.Walder K, Hanson RL, Kobes S, Knowler WC, Ravussin E. An autosomal genomic scan for loci linked to plasma leptin concentration in Pima Indians. Int J Obes Relat

Metab Disord. 24: 559-65, 2000.

5. Pratley RE, Thompson DB, Prochazka M, Baier L, Mott D, Ravussin E, Sakul H, Ehm

MG, Burns DK, Foroud T, Garvey WT, Hanson RL, Knowler WC, Bennett PH,

Bogardus C: An autosomal genomic scan for loci linked to prediabetic phenotypes in

Pima Indians. J Clin Invest. 101:1757-1764, 1998.

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6. Lindsay RS, Kobes S, Knowler WC, Hanson RL. Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight. Hum Genet. 110:

503-9, 2002.

7. Thameem F, Farook VS, Yang X, Lee YH, Permana PA, Bogardus C, Prochazka M.

The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians. Mol Genet Metab. 81: 16-21,

2004.

8. Wolford JK, Colligan PB, Gruber JD, Bogardus C. Variants in the interleukin 6 receptor gene are associated with obesity in Pima Indians. Mol Genet Metab. 80: 338-43,

2003.

9. Konheim YL, Wolford JK. Association of a promoter variant in the inducible cyclooxygenase-2 gene (PTGS2) with type 2 diabetes mellitus in Pima Indians. Hum

Genet. 113: 377-81, 2003.

10. Thameem F, Yang X, Permana PA, Wolford JK, Bogardus C, Prochazka M.

Evaluation of the microsomal glutathione S-transferase 3 (MGST3) locus on 1q23 as a

Type 2 diabetes susceptibility gene in Pima Indians. Hum Genet. 113: 353-8, 2003.

11. Wolford JK, Konheim YL, Colligan PB, Bogardus C. Association of a F479L variant in the cytosolic phospholipase A2 gene (PLA2G4A) with decreased glucose turnover and oxidation rates in Pima Indians. Mol Genet Metab. 79: 61-6, 2003.

12. Wolford JK, Gruber JD, Ossowski VM, Vozarova B, Antonio Tataranni P, Bogardus

C, Hanson RL. A C-reactive protein promoter polymorphism is associated with type 2 diabetes mellitus in Pima Indians. Mol Genet Metab. 78: 136-44, 2003.

13. Prochazka M, Farook VS, Ossowski V, Wolford JK, Bogardus C. Variant screening of PRKAB2, a type 2 diabetes mellitus susceptibility candidate gene on 1q in Pima

Indians. Mol Cell Probes. 16: 421-7, 2002.

14. Wolford JK, Hanson RL, Kobes S, Bogardus C, Prochazka M. Analysis of linkage disequilibrium between polymorphisms in the KCNJ9 gene with type 2 diabetes mellitus in Pima Indians. Mol Genet Metab. 73: 97-103, 2001.

15. Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M. Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians. Diabetes 51:

3342-6, 2002.

16. Thameem F, Wolford JK, Wang J, German MS, Bogardus C, Prochazka M. Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima

Indians. Gene. 290: 217-25, 2002.

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17. Wolford JK, Thameem F, Bogardus C, Prochazka M. Polymorphism screening of the insulin receptor-related receptor gene (INSRR) on 1q in Pima Indians. Mol Cell Probes.

15: 223-7, 2001.

18. Wolford JK, Hanson RL, Bogardus C, Prochazka M. Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians. Diabetologia. 44: 779-

82, 2001.

19. Wolford JK, Bogardus C, Ossowski V, Prochazka M. Molecular characterization of the human PEA15 gene on 1q21-q22 and association with type 2 diabetes mellitus in

Pima Indians. Gene. 241: 143-8, 2000.

20. Wolford JK, Bogardus C, Prochazka M. Polymorphism in the 3' untranslated region of MTG8 is associated with obesity in Pima Indian males. Biochem Biophys Res

Commun. 246: 624-6, 1998.

21. Thameem F, Wolford JK, Bogardus C, Prochazka M. Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in Pima

Indians. Mol Genet Metab. 72: 360-3, 2001.

22. Thameem F, Wolford JK, Bogardus C, Prochazka M. Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians. Biochem Biophys Acta.

1518: 215-20, 2001.

23. Jenkinson CP, Hanson R, Cray K, Wiedrich C, Knowler WC, Bogardus C, Baier L.

Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesity or type 2 diabetes mellitus in Pima Indians. Int J Obes Relat Metab Disord. 24: 1233-8,

2000.

24. Kovacs P, Yang X, Permana PA, Bogardus C, Baier LJ. Polymorphisms in the oxygen-regulated protein 150 gene (ORP150) are associated with insulin resistance in

Pima Indians. Diabetes. 51: 1618-21, 2002.

25. Xia J, Scherer SW, Cohen PT, Majer M, Xi T, Norman RA, Knowler WC, Bogardus

C, Prochazka M. A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes. Diabetes. 47: 1519-24, 1998.

26. Robert S. Lindsay, Robert L. Hanson, Chris Wiedrich, William C. Knowler, Peter H.

Bennett, and Leslie J. Baier The insulin gene variable number tandem repeat class I/III polymorphism is in linkage disequilibrium with birth weight but not Type 2 diabetes in the Pima population. Diabetes. 52: 187-93, 2003.

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