Study of the insulin gene in children with insulin-dependent diabetes mellitus in the Azerbaijani population
Insulin-dependent diabetes mellitus is autoimmune disease and in persons with an identical genotype frequency of its occurrence can be up to 70%. In the hereditary transmission of the disease, special loci are involved, which are called IDDM1, IDDM2, etc. The IDDM2 gene belongs to the INS gene.
The objective: the study of the insulin gene in representatives of the Azerbaijani population.
Patients and methods. The insulin gene was studied in 160 children with diabetes mellitus type 1, and in 271 healthy people from the Azerbaijani population. Of the 160 patients, 50.6% (n = 81) were boys, 49.4% (n = 79) were girls. All patients with diabetes were under the age of 18 years. The average age of the patients was 9.1 years. The survey was conducted on the basis of children’s clinical hospital number 6 in Baku city. For all patients, a special questionnaire was filled out. Only children of Azerbaijani nationality were included in the study. As a comparison group, 271 students from the Medical College No. 1 in Baku were involved. Of these: 29.1% (n = 79) were boys, 70.9% (n = 192) girls.
Results. Collected blood samples were sent for further study by the medical genetic laboratory of the University Hospital of Motol at Charles University, located in the city of Prague (Czech Republic).
Conclusion. According to the data obtained in our study, it can be argued that in the Azerbaijani population the insulin gene 23HphI does not play a role in the development of diabetes mellitus.
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Bell G.I., Pictet R.L., Rutter W.J., Cordell B., Tischer E., and Goodman H.M. (1980) Nature 284, 26–32.
Ohneda K., Ee H., and German M. (2000) Semin. CellDev. Biol. 11, 227–233.
Itoh N. and Okamoto H. (1980) Nature 283, 100–102.
Welsh M., Nielsen D.A., MacKrell A.J., and Steiner D.F. (1985) J. Biol. Chem. 260, 13590–13594.
Bell G.I., Selby M.J., and Rutter W.J. (1982) Nature 295, 31–35.
Bell G.I., Horita S., and Karam J.H. (1984) Diabetes 33, 176–183. Hammond Kosack M.C., and Docherty K. (1992) FEBS Lett. 301, 79–82.
Redondo, M. J., Yu, L., Hawa, M., Mackenzie, T., Pyke, D. A., Eisenbarth, G. S., and Leslie, R. D. (2001) Diabetologia 44, 354 – 362.
Onengut Gumuscu S., and Concannon P. (2002) Immunol. Rev. 190, 182–194.
Bennett S.T., and Todd J.A. (1996) Annu. Rev. Genet. 30, 343–370.
Pugliese A., Awdeh Z.L., Alper C.A., Jackson R.A., and Eisenbarth G.S. (1994) J. Autoimmun. 7, 687–694.
Bennett S.T., Wilson A.J., Cucca F., Nerup J., Pociot F., McKinney P.A., Barnett A.H., Bain .С., and Todd J.A. (1996) J. Autoimmun. 9, 415–421.
Stead JD, Jeffreys AJ: Structural analysis of insulin minisatellite alleles reveals unusually large differences in diversity between Africans and non Africans. Am J Hum Genet 71: 1273 –1284, 2002.
Metcalfe KA, Hitman GA, Fennessy MJ, McCarthy MI, Tuomilehto J, Tuomilehto Wolf E: In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA DR associated risk: DiMe (Childhood Diabetes in Finland) Study Group. Diabetologia 38 :1223 –1229,1995.
Undlien DE, Bennett ST, Todd JA, Akselsen HE, Ikдheimo I, Reijonen H, Knip M, Thorsby E, Rшnningen KS: Insulin gene region encoded susceptibility to IDDM maps upstream of the insulin gene. Diabetes 44: 620 – 625, 1995.
Bennett ST, Todd JA: Human type 1 diabetes and the insulin gene: principles of mapping polygenes.Annu Rev Genet30:343 –370,1996.
Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O’Rahilly S, Hattersley AT, McCarthy MI: Analysis of parent off spring trios provides evidence for link age and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles. Diabetes 49: 126 –130,2000
Waterworth DM, Bennett ST, Gharani N, McCarthy MI, Hague S, Batty S, Conway GS, White D, Todd JA, Franks S, Williamson R: Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet 349 : 986 –990, 1997.
Le Stunff C, Fallin D, Bougnиres P: Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity. Nat Genet29 :96 –99,2001
Dunger DB, Ong KK, Huxtable SJ, Sherriff A, Woods KA, Ahmed ML, Golding J, Pembrey ME, Ring S, Bennett ST, Todd JA, ALSPAC Study Team: Association of the INS VNTR with size at birth: Avon Longitudinal Study of Pregnancy and Childhood. Nat Genet19 :98 –100,1998.
Mitchell SM, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, Ben Shlomo Y, Frayling TM: Lack of support for a role of the insulin genevariable number of tandem repeats minisatellite (INS VNTR) locus in fetal growth or type 2 diabetes related intermediate traits in United Kingdom populations. J ClinEndocrinol Metab 89:310 –317,2004
Ong KK, Petry CJ, Barratt BJ, Ring S, Cordell HJ, Wingate DL, the Avon Longitudinal Study of Pregnancy and Childhood Study Team, Pembrey ME, Todd JA, Dunger DB: Maternal fetal interactions and birth order influence insulin variable number of tandem repeats allele class associations with head size at birth and childhood weight gain. Diabetes 53: 1128 – 1133,2004
Osawa H, Onuma H, Murakami A, Ochi M, Nishimiya T, Kato K, Shimizu I, Fujii Y, Ohashi J, Makino H. Systematic search for single nucleotide polymorphisms in the insulin gene: evidence for a high fre quency of 23T A in Japanese subjects. Biochem Biophys Res Commun. 2001; 286:451–455.
C Le Stunff et al. The Insulin Gene VNTR Is Associated With Fasting Insulin Levels and Development of Juvenile Obesity. Nat Genet 26 (4), 444–446.
Halminen M, Veijola R, Reijonen H, Ilonen J, Akerblom HK, Knip M. Effect of polymorphism in the insulin generegion on IDDM susceptibility and insulin secretion. The Childhood Diabetes in Finland (DiMe) Study Group. Eur J Clin Invest.1996 Oct;26(10):847–52.
The Insulin Gene Variable Number Tandem Repeat and Risk of Type 2 Diabetes in a Population Based Sample of Families and Unrelated Men and Women – See more at: http://press.endocrine.org/doi/full/10.1210/jc.2004-1212#sthash.K8WUB21p.dpuf
Bennett ST1, Wilson AJ, Cucca F, Nerup J, Pociot F, McKinney PA, Barnett AH, Bain SC, Todd JA. IDDM2 VNTR encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene linked minisatellite locus. J Autoimmun. 1996 Jun;9(3):415–21.
Kennedy GC, German MS, Rutter WJ. The mini satellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 1995; 9:293–298.
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