Genome-Wide and Fine-Mapping Linkage Studies of Type 2 Diabetes and Glucose Traits in the Old Order Amish

Elston RC, Namboodiri KK, Nino HV, Pollitzer WS: Studies on blood and urine glucose in Seminole Indians: indications for segregation of a major gene. Am J Hum Genet 26:13–34,1974

Rich SS: Mapping genes in diabetes: genetic epidemiological perspective. Diabetes 39:1315–1319,1990

Hanson RL, Elston RC, Pettitt DJ, Bennett PH, Knowler WC: Segregation analysis of non-insulin-dependent diabetes mellitus in Pima Indians: evidence for a major-gene effect. Am J Hum Genet 57:160–170,1995

Stern MP, Mitchell BD, Blangero J, Reinhart L, Krammerer CM, Harrison CR, Shipman PA, O’Connell P, Frazier ML, MacCluer JW: Evidence for a major gene for type II diabetes and linkage analyses with selected candidate genes in Mexican-Americans. Diabetes 45:563–568,1996

Silver K, Shuldiner AR: Candidate genes for type II diabetes mellitus. In Diabetes Mellitus: A Fundamental and Clinical Text. LeRoith D, Taylor SI, Eds. Philadelphia, Lippincott,2000, p.709–719

Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer J, Bryant B, Chan G, Daly M, Forsblom C, Kanninen T, Kirby A, Kruglyak L, Munnelly K, Parkkonen M, Reeve-Daly MP, Weaver A, Brettin T, Duyk G, Lander ES, Groop LC: Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 14:90–94,1996

Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, Morrison VA, Wapelhorst B, Spielman RS, Gogolin-Ewens KJ, Shepard JM, Williams SR, Risch N, Hinds D, Iwasaki N, Ogata M, Omori Y, Petzold C, Rietzch H, Schroder HE, Schulze J, Cox NJ, Menzel S, Boriraj VV, Chen X, et al: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 13:161–166,1996

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

Hanson RL, Ehm MG, Pettitt DJ, Prochazka M, Thompson DB, Timberlake D, 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

Duggirala R, Blangero J, Almasy L, Dyer TD, Williams KL, Leach RJ, O’Connell P, Stern MP: Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 64:1127–1140,1999

Hegele RA, Sun F, Harris SB, Anderson C, Hanley AJ, Zinman B: Genome-wide scanning for type 2 diabetes susceptibility in Canadian Oji-Cree, using 190 microsatellite markers. J Hum Genet 44:10–14,1999

Elbein SC, Hoffman MD, Teng K, Leppert MF, Hasstedt SJ: A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians. Diabetes 48:1175–1182,1999

Ehm MG, Karnoub MC, Sakul H, Gottschalk K, Holt DC, Weber JL, Vaske D, Briley D, Briley L, Kopf J, McMillen P, Nguyen Q, Reisman M, Lai EH, Joslyn G, Shepherd NS, Bell C, Wagner MJ, Burns DK, American Diabetes Association GENNID Study Group: Genomewide search for type 2 diabetes susceptibility genes in four American populations. Am J Hum Genet 66:1871–1881,2000

Vionnet N, Hani El-H, Dupont S, Gallina S, Francke S, Dotte S, De Matos F, Durand E, Lepretre F, Lecoeur C, Gallina P, Zekiri L, Dina C, Froguel P: 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 67:1470–1480,2000

Watanabe RM, Ghosh S, Langefeld CD, Valle TT, Hauser ER, Magnuson VL, Mohlke KL, Silander K, Ally DS, Chines P, Blaschak-Harvan J, Douglas JA, Duren WL, Epstein MP, Fingerlin TE, Kaleta HS, Lange EM, Li C, McEachin RC, Stringham HM, Trager E, White PP, Balow J Jr, Birznieks G, Chang J, Eldridge W: The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci. Am J Hum Genet 67:1186–1200,2000

Ghosh S, Watanabe RM, Valle TT, Hauser ER, Magnuson VL, Langefeld CD, Ally DS, Mohlke KL, Silander K, Kohtamaki K, Chines P, Balow J Jr, Birznieks G, Chang J, Eldridge W, Erdos MR, Karanjawala ZE, Knapp JI, Kudelko K, Martin C, Morales-Mena A, Musick A, Musick T, Pfahl C, Porter R, Rayman JB: The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am J Hum Genet 67:1174–1185,2000

Permutt MA, Wasson JC, Suarez BK, Lin J, Thomas J, Meyer J, Lewitzky S, Rennich JS, Parker A, DuPrat L, Maruti S, Chayen S, Glaser B: A genome scan for type 2 diabetes susceptibility loci in a genetically isolated population. Diabetes 50:681–685,2001

Parker A, Meyer J, Lewitzky S, Rennich JS, Chan G, Thomas JD, Orho-Melander M, Lehtovirta M, Forsblom C, Hyrkko A, Carlsson M, Lindgren C, Groop LC: A gene conferring susceptibility to type 2 diabetes in conjunction with obesity is located on chromosome 18p11. Diabetes 50:675–680,2001

Luo TH, Zhao Y, Li G, Yuan WT, Zhao JJ, Chen JL, Huang W, Luo M: A genome-wide search for type II diabetes susceptibility genes in Chinese Hans. Diabetologia 44:501–506,2001

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 PV, Wishart M, Bottazzo GF, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI: 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 69:553–569,2001

Lindgren CM, Mahtani MM, Widen E, McCarthy MI, Daly MJ, Kirby A, Reeve MP, Kruglyak L, Parker A, Meyer J, Almgren P, Lehto M, Kanninen T, Tuomi T, Groop LC, Lander ES: Genomewide search for type 2 diabetes mellitus susceptibility Loci in Finnish families: the Botnia study. Am J Hum Genet 70:509–516,2002

Busfield F, Duffy DL, Kesting JB, Walker SM, Lovelock PK, Good D, Tate H, Watego D, Marczak M, Hayman N, Shaw JT: A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians. Am J Hum Genet 70:349–357,2002

Meigs JB, Panhuysen CI, Myers RH, Wilson PW, Cupples LA: A genome-wide scan for loci linked to plasma levels of glucose and HbA1c in a community-based sample of Caucasian pedigrees: the Framingham Offspring Study. Diabetes 51:833–840,2002

Hsueh WC, Mitchell BD, Shuldiner AR: Use of genome scans to identify susceptibility genes for type 2 diabetes. In Genetics of Diabetes Mellitus. W. Lowe, Ed. Norwell, MA, Kluwer Academic Publishers,2001, p.231–250

Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI: Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26:163–175,2002

Hsueh WC, Mitchell BD, Aburomia R, Pollin T, Sakul H, Gelder Ehm M, Michelsen BK, Wagner MJ, St Jean PL, Knowler WC, Burns DK, Bell CJ, Shuldiner AR: Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study. Diabetes Care 23:595–601,2000

Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA: Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County. Genome Res 8:211–221,1998

The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 20:1183–1197,1997

Hsueh WC, Mitchell BD, Schneider JL, Wagner MJ, Bell CJ, Nanthakumar E, Shuldiner AR: QTL influencing blood pressure maps to the region of PPH1 on chromosome 2q31–34 in Old Order Amish. Circulation 101:2810–2816,2000

Green P, Falls K, Crooks S: Documentation for CRI-MAP. Version 2.4. St. Louis, MO, Department of Genetics, School of Medicine, Washington University,1990

Ehm MG, Wagner MJ: A test statistic to detect errors in sib-pair relationships. Am J Hum Genet 62:181–188,1998

Ott J: Analysis of Human Genetic Linkage. Baltimore, MD, Johns Hopkins University Press,1991

Kong A, Cox NJ: Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179–1188,1997

Sham PC: Statistical methods in psychiatric genetics. Stat Methods Med Res 7:279–300,1998

Cox NJ, Frigge M, Nicolae DL, Concannon P, Hanis CL, Bell GI, Kong A: Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nat Genet 21:213–215,1999

Almasy L, Blangero J: Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198–1211,1998

Allison DB, Neale MC, Zannolli R, Schork NJ, Amos CI, Blangero J: Testing the robustness of the likelihood-ratio test in a variancecomponent quantitative-trait loci-mapping procedure. Am J Hum Genet 65:531–544,1999

Barzilay JI, Abraham L, Heckbert SR, Cushman M, Kuller LH, Resnick HE, Tracy RP: The relation of markers of inflammation to the development of glucose disorders in the elderly: the Cardiovascular Health Study. Diabetes 50:2384–2389,2001

Pradhan AD, Manson JE, Rifai N, Buring JE, Ridker PM: C-reactive protein, interleukin 6, and risk of developing type 2 diabetes mellitus. JAMA 286:327–334,2001

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 62:659–668,1998

Thompson DB, Sutherland J, Apel W, Ossowski V: A physical map at 1p31 encompassing the acute insulin response locus and the leptin receptor. Genomics 39:227–230,1997

Hauser ER, Boehnke M: Confirmation of linkage results in affected-sib-pair linkage analysis for complex trait (Abstract). Am J Hum Genet 61 (Suppl. 1):A278,1997

Hsueh WC, Goring HH, Blangero J, Mitchell BD: Replication of linkage to quantitative trait loci: variation in location and magnitude of the LOD score. Genet Epidemiol 21 (Suppl. 1):S473–S478,2001

Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS: Replication of linkage studies of complex traits: an examination of variation in location estimates. Am J Hum Genet 65:876–884,1999

Cao H, Hegele RA: Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9:109–112,2000

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 44:779–782,2001

Reynet C, Kahn CR: Rad: a member of the Ras family overexpressed in muscle of type II diabetic humans. Science 262:1441–1444,1993

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 241:143–148,2000

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

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 72:360–363,2001

Thameem F, Wolford JK, Bogardus C, Prochazka M: Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians. Biochim Biophys Acta 1518:215–220,2001