Erratum: Association of a low-frequency variant of HNF1A with type 2 diabetes ina latino population (JAMA (2014) 311:22 (2305-2314) 10.1001/jama.2014.6511);Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium

JAMA

Volumn 311, Issue 22, 2014, Pages 2305-2314

  Estrada, Karol ^a,b,c   Aukrust, Ingvild ^d   Bjørkhaug, Lise ^d,e   Burtt, Noël P ^a   Mercader, Josep M ^a,b,f   García Ortiz, Humberto ^g   Huerta Chagoya, Alicia ^h   Moreno Macías, Hortensia ⁱ   Walford, Geoffrey ^b,c   Flannick, Jason ^a,c   Williams, Amy L ^a,k   Gómez Vázquez, María J ⁿ   Fernandez Lopez, Juan C ^g   Martínez Hernández, Angélica ^g   Jiménez Morales, Silvia ^g   Centeno Cruz, Federico ^g   Mendoza Caamal, Elvia ^g   Revilla Monsalve, Cristina ^o   Islas Andrade, Sergio ^o   Córdova, Emilio J ^g   Soberón, Xavier ^g   González Villalpando, María E ^j   Henderson, E ^m   Wilkens, Lynne R ^p   Le Marchand, Loic ^p   Arellano Campos, Olimpia ⁿ   Ordóñez Sánchez, Maria L ⁿ   Rodríguez Torres, Maribel ⁿ   Rodríguez Guillén, Rosario ⁿ   Riba, Laura ^h   Najmi, Laeya A ^d,e   Jacobs, Suzanne B R ^a   Fennell, Timothy ^a   Gabriel, Stacey ^a   Fontanillas, Pierre ^a   Hanis, Craig L ^q   Lehman, Donna M ^r   Jenkinson, Christopher P ^r   Abboud, Hanna E ^r   Bell, Graeme I ^s,t   Cortes, Maria L ^a   Boehnke, Michael ^l   González Villalpando, Clicerio ^j   Orozco, Lorena ^g   Haiman, Christopher A ^m   Tusié Luna, Teresa ^h,n   Aguilar Salinas, Carlos A ⁿ   Altshuler, David ^a,b,c   Njølstad, Pål R ^d,e   Florez, Jose C ^a,b,c   MacArthur, Daniel G ^a,c   more..

^a MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF BERGEN   (Norway)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

^g INSTITUTO NACIONAL DE MEDICINA GENÓMICA   (Mexico)

^h UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

ⁱ UNIVERSIDAD AUTÓNOMA METROPOLITANA   (Mexico)

^j INSTITUTO NACIONAL DE SALUD PÚBLICA   (Mexico)

^k Och Spine at New York Presbyterian Hospitals   (United States)

^l UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

^m UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

ⁿ INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^o INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^p UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^q UNIVERSITY OF TEXAS   (United States)

^r Mays Cancer Center at UT Health San Antonio   (United States)

^s UNIVERSITY OF CHICAGO   (United States)

^t UNIVERSITY OF CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1ALPHA;

ADULT; AGE DISTRIBUTION; ANIMAL CELL; ARTICLE; BODY MASS; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOTE; HISPANIC; HNF1A GENE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; TRANSACTIVATION;

ADULT; AGE OF ONSET; AGED; DIABETES MELLITUS, TYPE 2; FEMALE; GENOTYPE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HISPANIC AMERICANS; HUMANS; MALE; MEXICO; MIDDLE AGED; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; UNITED STATES;

EID: 84902185032     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2014.8030     Document Type: Erratum

References (51)

1. Villalpando S, de la Cruz V, Rojas R, et al. Prevalence and distribution of type 2 diabetes mellitus in Mexican adult population. Salud Publica Mex. 2010;52(suppl 1):S19-S26.
2. Barquera S, Tovar-Guzmán V, Campos-Nonato I, González- Villalpando C, Rivera-Dommarco J. Geography of diabetes mellitus mortality in Mexico. Arch Med Res. 2003;34(5):407-414.
3. Cowie CC, Rust KF, Byrd-Holt DD, et al. Prevalence of diabetes and impaired fasting glucose in adults in the U.S. population: National Health And Nutrition Examination Survey 1999-2002. Diabetes Care. 2006;29(6):1263-1268. (Pubitemid 44125920)
4. Williams AL, Jacobs SB, Moreno-Macías H, et al. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature. 2014;506(7486):97-101.
5. Morris AP, Voight BF, Teslovich TM, et al; Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet. 2012;44(9):981-990.
6. Voight BF, Scott LJ, Steinthorsdottir V, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010;42(7):579-589.
7. Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet. 2014;46(3):234-244.
8. Albrechtsen A, Grarup N, Li Y, et al. Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia. 2013;56(2):298-310.
9. Lohmueller KE, Sparsø T, Li Q, et al. Whole-exome sequencing of 2000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet. 2013;93(6):1072-1086.
10. Steinthorsdottir V, Thorleifsson G, Sulem P, et al. Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat Genet. 2014;46(3):294-298.
11. Lorenzo C, Williams K, Gonzalez-Villalpando C, Haffner SM. The prevalence of themetabolic syndrome did not increase in Mexico City between 1990-1992 and 1997-1999 despite more central obesity. Diabetes Care. 2005;28(10):2480-2485. (Pubitemid 41384297)
12. Hunt KJ, Gonzalez ME, Lopez R, Haffner SM, Stern MP, Gonzalez-Villalpando C. Diabetes is more lethal in Mexicans and Mexican-Americans compared to Non-Hispanic whites. Ann Epidemiol. 2011;21(12):899-906.
13. Kolonel LN, Henderson BE, Hankin JH, et al. A multiethnic cohort in Hawaii and Los Angeles. Am J Epidemiol. 2000;151(4):346-357.
14. DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491-498.
15. Falconer DS. The inheritance of liability to diseases with variable age of onset, with particular reference to diabetes mellitus. Ann Hum Genet. 1967;31(1):1-20.
16. Zaitlen N, Pasaniuc B, Patterson N, et al. Analysis of case-control association studies with known risk variants. Bioinformatics. 2012;28(13):1729-1737.
17. Kang HM, Sul JH, Service SK, et al. Variance component model to account for sample structure in genome-wide association studies. Nat Genet. 2010;42(4):348-354.
18. Lee S, Wu MC, Lin X. Optimal tests for rare variant effects in sequencing association studies. Biostatistics. 2012;13(4):762-775.
19. Li B, Leal SM. Methods for detecting associations with rare variants for common diseases. Am J Hum Genet. 2008;83(3):311-321.
20. Bjørkhaug L, Sagen JV, Thorsby P, Søvik O, Molven A, Njølstad PR. Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. J Clin Endocrinol Metab. 2003;88(2):920-931. (Pubitemid 36207843)
21. Aukrust I, Bjørkhaug L, Negahdar M, et al. SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. J Biol Chem. 2013;288(8):5951-5962.
22. Bjørkhaug L, Ye H, Horikawa Y, Søvik O, Molven A, Njølstad PR. MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). Biochem Biophys Res Commun. 2000;279(3):792-798. (Pubitemid 32042857)
23. Abecasis GR, Auton A, Brooks LD, et al; 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.
24. Tennessen JA, Bigham AW, O'Connor TD, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64-69.
25. Hara K, Fujita H, Johnson TA, et al; DIAGRAM consortium. Genome-wide association study identifies three novel loci for type 2 diabetes. Hum Mol Genet. 2014;23(1):239-246.
26. Mitchell BD, Kammerer CM, Blangero J, et al. Genetic and environmental contributions to cardiovascular risk factors in Mexican Americans. Circulation. 1996;94(9):2159-2170. (Pubitemid 26360509)
27. Hanis CL, Ferrell RE, Barton SA, et al. Diabetes among Mexican Americans in Starr County, Texas. Am J Epidemiol. 1983;118(5):659-672. (Pubitemid 14230043)
28. Flannick J, Beer NL, Bick AG, et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet. 2013;45(11):1380-1385.
29. Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat. 2000;16(5):377-385.
30. Molven A, Njølstad PR. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Rev Mol Diagn. 2011;11(3):313-320.
31. Eide SA, Raeder H, Johansson S, et al Prevalence of HNF1A (MODY3) mutations in a Norwegian population. Diabetic Med. 2008;25(7):775-781.
32. Kropff J, Selwood MP, McCarthyMI, Farmer AJ, Owen KR. Prevalence of monogenic diabetes in young adults. Diabetologia. 2011;54(5):1261-1263.
33. Ledermann HM. Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed? Diabetologia. 1995;38(12):1482.
34. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY)? Diabetologia. 2010;53(12):2504- 2508.
35. Bellanné-Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes. 2008;57(2):503-508.
36. Forlani G, Zucchini S, Di Rocco A, et al. Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes. Diabetes Care. 2010;33(11):2336-2338.
37. Hegele RA, Cao H, Harris SB, Hanley AJ, Zinman B. The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab. 1999;84(3):1077-1082. (Pubitemid 29138246)
38. Kristinsson SY, Thorolfsdottir ET, Talseth B, et al. MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1. Diabetologia. 2001;44(11):2098-2103. (Pubitemid 33124057)
39. Zuk O, Schaffner SF, Samocha K, et al. Searching formissing heritability. Proc Natl Acad Sci U S A. 2014;111(4):455-464.
40. Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008;322(5903):881-888.
41. Winckler W, Weedon MN, Graham RR, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 2007;56(3):685-693. (Pubitemid 46348464)
42. Fang QC, Zhang R, Wang CR, Lin X, Xiang KS. Scanning HNF-1 alpha gene mutation in Chinese early-onset and/or multiplex diabetes pedigrees [In Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21(4):329-334. (Pubitemid 39050036)
43. Nishigori H, Yamada S, Kohama T, et al. Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. J Hum Genet. 1998;43(2):107-110. (Pubitemid 128508964)
44. Tonooka N, Tomura H, Takahashi Y, et al. High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia. 2002;45(12):1709-1712. (Pubitemid 35478141)
45. Yorifuji T, Fujimaru R, Hosokawa Y, et al. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes. 2012;13(1):26-32.
46. Søvik O, Njølstad P, Følling I, Sagen J, Cockburn BN, Bell GI. Hyperexcitability to sulphonylurea in MODY3. Diabetologia. 1998;41(5):607-608.
47. ShepherdM, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med. 2009;26(4):437-441.
48. Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003;362(9392):1275-1281. (Pubitemid 37324255)
49. Baumhueter S, Mendel DB, Conley PB, et al. HNF-1 shares three sequence motifs with the POU domain proteins and is identical to LF-B1 and APF. Genes Dev. 1990;4(3):372-379. (Pubitemid 120012620)
50. Chouard T, BlumenfeldM, Bach I, Vandekerckhove J, Cereghini S, Yaniv M. A distal dimerization domain is essential for DNA-binding by the atypical HNF1 homeodomain. Nucleic Acids Res. 1990;18(19):5853-5863.
51. Tronche F, Yaniv M. HNF1, a homeoprotein member of the hepatic transcription regulatory network. BioEssays. 1992;14(9):579-587.