Relationship of type 1 diabetes to ancestral proportions and HLA DR/DQ alleles in a sample of the admixed Cuban population

Annals of Human Biology

Volumn 37, Issue 6, 2010, Pages 778-788

  Diaz Horta, Oscar ^a   Cintado, Alberto ^b   Fernandez De Cossio, Maria Elena ^b   Nazabal, Marcelo ^b   Ferrer, Annia ^b   Roca, Juan ^b   Camacho, Hamlet ^b   Bentez, Jesus ^b   Ale, Mayte ^b   Villarreal, Adelaida ^b   Molina, Gisela ^a   Vera, Manuel ^a   Cabrera Rode, Eduardo ^a   Novoa, Lidia ^b  

^a INSTITUTO NACIONAL DE ENDOCRINOLOGÍA   (Cuba)

^b CENTER FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Cuba)

Author keywords

Ancestry; Autoimmune; Genetics; Human lymphocyte antigens; Type 1 diabetes mellitus

Indexed keywords

HLA DQ ANTIGEN; HLA DR ANTIGEN;

ALLELE; ANCESTRY; ANTIGEN; CYTOGENETICS; DIABETES; ETHNICITY; POLYMERASE CHAIN REACTION; STATISTICAL APPLICATION;

ADULT; ALLELE; ARTICLE; CASE CONTROL STUDY; CUBA; DISEASE PREDISPOSITION; FEMALE; GENE; GENE FREQUENCY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNOLOGY; INSULIN DEPENDENT DIABETES MELLITUS; MALE; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALLELES; CASE-CONTROL STUDIES; CUBA; DIABETES MELLITUS, TYPE 1; DISEASE SUSCEPTIBILITY; FEMALE; GENE FREQUENCY; GENES, MHC CLASS II; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT;

EID: 77958530086     PISSN: 03014460     EISSN: 14645033     Source Type: Journal    
DOI: 10.3109/03014461003766984     Document Type: Article

References (43)

1. 778-788 Barnett AH, Eff C, Leslie RD, Pyke DA. 1981. Diabetes in identical twins: A study of 200 pairs. Diabetologia 20: 87-93.
2. Bonilla C, Shriver MD, Parra EJ, Jones A, Fernandez JR. 2004. Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York City. Hum Genet 115:57-68.
3. Chakraborty R. 1975. Estimation of race admixture - a new method. Am J Phys Anthropol 42:507-511.
4. Cintado A, Companioni O, Nazabal M, Camacho H, Ferrer A, De Cossio ME, Marrero A, Ale M, Villarreal A, Leal L, Casalvilla R, Benitez J, Novoa L, Diaz-Horta O, Dueñas M. 2009. Admixture estimates for the population of Havana City. Ann Hum Biol 36:350-360.
5. Cohen-Haguenauer O, Robbins E, Massart C, Busson M, Deschamps I, Hors J, Lalouel JM, Dausset J, Cohen D. 1985. A systematic study of HLA class II-beta DNA restriction fragments in insulin dependent diabetes mellitus. Proc Natl Acad Sci USA 82:3335-3339.
6. Collado-Mesa F, Barcelo A, Arheart KL, Messiah SE. 2004. An ecological analysis of childhood-onset type 1 diabetes incidence and prevalence in Latin America. Rev Panam Salud Publica 15:388-394.
7. Concannon P, Rich SS, Nepom GT. 2009. Genetics of type 1A diabetes. N Engl J Med 360:1646-1654.
8. Dempster A, Laird N, Rubin D. 1977. Maximum likelihood estimation from incomplete data using the EM algorithm. J Roy Stat Soc 39:1-38.
9. Dorman JS, Bunker CH. 2000. HLA-DQ locus of the human leukocyte antigen complex and type 1 diabetes mellitus: A Hu GE review*. Epidemiol Rev 22:218-227.
10. Emery LM, Babu S, Bugawan TL, Norris JM, Erlich HA, Eisenbarth GS, Rewers M. 2005. Newborn HLA-DR, DQ genotype screening: Age- and ethnicity specific type 1 diabetes risk estimates. Pediatr Diabetes 6:136-144.
11. Erlich H, Valdes AM, Noble J, Carlson JA, Varney M, Concannon P, Mychaleckyj JC, Todd JA, Bonella P, Fear AL, Lavant E, Louey A, Moonsamy P, Type 1 Diabetes Genetics Consortium. 2008. HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: Analysis of the type 1 diabetes genetics consortium families. Diabetes 57: 1084-1092.
12. Erlich HA, Zeidler A, Chang J, Shaw S, Raffel LJ, Klitz W, Beshkov Y, Costin G, Pressman S, Bugawan T. 1993. HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican- American families. Nat Genet 3:358-364.
13. Excoffier L, Slatkin M. 1995. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 5:921-927.
14. Fernandes AP, Louzada-Junior P, Foss MC, Donadi EA. 2002. HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitus. Ann NY Acad Sci 958:305-308.
15. Field LL, Tobias R, Magnus T. 1994. A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nat Genet 8:189-194.
16. Greenbaum CJ, Schatz DA, Cuthbertson D, Zeidler A, Eisenbarth GS, Krischer JP. 2000. Islet cell antibody-positive relatives with human leukocyte antigen DQA1*0102, DQB1*0602: Identification by the Diabetes Prevention Trial-type 1. J Clin Endocrinol Metab 85:1255-1260.
17. Guanche J. 1997. Componentes étnicos nación cubana. Havana: Fundación Fernando Ortiz.
18. Herr M, Dudbridge F, Zavattari P, Cucca F, Guja C, March R, Campbell RD, Barnett AH, Bain SC, Todd JA, Koeleman BP. 2000. Evaluation of fine mapping strategies for a multifactorial disease locus: Systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21. Hum Mol Genet 9:1291-1301.
19. Hoggart CJ, Parra EJ, Shriver MD, Bonilla C, Kittles RA, Clayton DG, McKeigue PM. 2003. Control of confounding of genetic associations in stratified populations. Am J Hum Genet 72:1492-1504.
20. Hood RJ. 2000. Cuban Health System offers an uncommon opportunity. J Natl Med Assoc 92:547-549.
21. Hyoty H, Taylor KW. 2002. The role of viruses in human diabetes. Diabetologia 45:1353-1361.
22. Jun HS, Yoon JW. 2004. A new look at viruses in type 1 diabetes. ILAR J 45:349-374.
23. Karvonen M, Tuomilehto J, Libman I, La Porte R. 1993. A review of the recent epidemiological data on the worldwide incidence of type 1 (insulin-dependent) diabetes mellitus. Diabetologia 36:883-892.
24. Karvonen M, Viik-Kajander M, Moltchanova E, Libman I, La Porte R, Tuomilehto J. 2000. Incidence of childhood type 1 diabetes worldwide. Diabetes Mondiale (Dia Mond) Project Group. Diabetes Care 23:1516-1526.
25. Krokowski M, Bodalski J, Bratek A, Boitard C, Caillat-Zucman S. 1998. HLA class II-associated predisposition to insulin-dependent diabetes mellitus in a Polish population. Hum Immunol 59:451-455.
26. Lancaster A, Nelson MP, Single RM, Meyer D, Thomson G. 2003. Py Pop: A software framework for population genomics: Analyzing large-scale multi-locus genotype data. In: Altman R, editor. Pacific Symposium on Biocomputing 8. Singapore: World Scientific. p 514-525.
27. Mimbacas A, Perez-Bravo F, Hidalgo PC, Javiel G, Pisciottano C, Grignola R, Jorge AM, Gallino JP, Gasagoite J, Cardoso H. 2003. Association between diabetes type 1 and DQB1* alleles in a case-control study conducted in Montevideo, Uruguay. Genet Mol Res 2:29-35.
28. Morel PA, Dorman JS, Todd JA, McDevitt HO, Trucco M. 1988. Aspartic acid at position 57 of the HLA-DQ beta chain protects against type I diabetes: A family study. Proc Natl Acad Sci USA 85:8111-8115.
29. Olerup O, Aldener A, Fogdell A. 1993. HLA-DQB1 and -DQA1 typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours. Tissue Antigens 41:119-134.
30. Olerup O, Zetterquist H. 1992. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: An alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 39:225-235.
31. Park YS, Wang CY, Ko KW, Yang SW, Park M, Yang MC, She JX. 1998. Combinations of HLA DR and DQ molecules determine the susceptibility to insulin-dependent diabetes mellitus in Koreans. Hum Immunol 59: 794-801.
32. Parry CS, Brooks BR. 2008. A new model defines the minimal set of polymorphism in HLA-DQ and -DR that determines susceptibility and resistance to autoimmune diabetes. Biol Direct 3:42.
33. Pritchard JK, Donnelly P. 2001. Case-control studies of association in structured or admixed populations. Theoret Popul Biol 60:227-237.
34. Pritchard JK, Rosenberg NA. 1999. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 65:220-228.
35. Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945-959.
36. Pugliese A, Zeller M, Fernandez A, Jr, Zalcberg LJ, Bartlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD. 1997. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 15: 293-297.
37. Redondo MJ, Fain PR, Eisenbarth GS. 2001a. Genetics of type 1A diabetes. Recent Prog Horm Res 56:69-89.
38. Redondo MJ, Yu L, Hawa M, Mackenzie T, Pyke DA, Eisenbarth GS, Leslie RD. 2001b. Heterogeneity of type 1 diabetes: Analysis of monozygotic twins in Great Britain and the United States. Diabetologia 44:354-362.
39. Rewers A, Babu S, Wang TB, Bugawan TL, Barriga K, Eisenbarth GS, Erlich HA. 2003. Ethnic differences in the associations between the HLA-DRB1*04 subtypes and type 1 diabetes. Ann NY Acad Sci 1005:301-309.
40. Serreze DV, Bridgett M, Chapman HD, Chen E, Richard SD, Leiter EH. 1998. Subcongenic analysis of the Idd13 locus in NOD/Lt mice: Evidence for several susceptibility genes including a possible diabetogenic role for beta 2-microglobulin. J Immunol 160:1472-1478.
41. Sheehy MJ, Scharf SJ, Rowe JR, Neme de Gimenez MH, Meske LM, Erlich HA, Nepom BS. 1989. A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles. J Clin Invest 83: 830-835.
42. Shriver MD, Parra EJ, Dios S, Bonilla C, Norton H, Jovel C, Pfaff C, Jones C, Massac A, Cameron N, Baron A, Jackson T, Argyropoulos G, Jin L, Hoggart CJ, McKeigue PM, Kittles RA. 2003. Skin pigmentation, biogeographical ancestry and admixture mapping. Hum Genet 112:387-399.
43. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-T̂rgovişte C; Genetics of Type 1 Diabetes in Finland, Simmonds MJ, Heward JM, Gough SC; Wellcome Trust Case Control Consortium, Dunger DB, Wicker LS, Clayton DG. 2007. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 39:813-815.