Dimorphism -23HphI in the INS gene (rs689): the association with type 1 diabetes mellitus in the populations of the Russian Federation, the inter-population comparison of the frequencies

Ivanova O.N.; Stepanova S.M.; Smirnova N.B.; Zvereva Ia.S.; Suntsov Iu.I.; Bardymova T.P.; Danilova G.I.; Kovalenko T.V.; Titovich E.V.; Kuraeva T.L.; Peterkova V.A.; Dedov I.I.

doi:https://doi.org/10.14341/probl20146064-9

Ivanova O.N.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Stepanova S.M.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia, Moskva

Smirnova N.B.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Zvereva Ia.S.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia, Moskva

Suntsov Iu.I.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Bardymova T.P.

Irkutskaia gosudarstvennaia meditsinskaia akademiia poslediplomnogo obrazovaniia, Minzdrava Rossii, Irkutsk, Rossiia

Danilova G.I.

GBU "Respublikanskaia bol'nitsa #1 - Natsional'nyĭ tsentr meditsiny", Iakutsk, Rossiia

Kovalenko T.V.

GOU VPO "Izhevskaia gosudarstvennaia meditsinskaia akademiia", Izhevsk, Rossiia

Titovich E.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Kuraeva T.L.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Dedov I.I.

Endocrinology Research Centre

Dimorphism -23HphI in the INS gene (rs689): the association with type 1 diabetes mellitus in the populations of the Russian Federation, the inter-population comparison of the frequencies

Authors:

Ivanova O.N., Stepanova S.M., Smirnova N.B., Zvereva Ia.S., Suntsov Iu.I., Bardymova T.P., Danilova G.I., Kovalenko T.V., Titovich E.V., Kuraeva T.L., Peterkova V.A., Dedov I.I.

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Journal: Problems of Endocrinology. 2014;60(6): 4‑9

DOI: 10.14341/probl20146064-9

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To cite this article:

Ivanova ON, Stepanova SM, Smirnova NB, et al. . Dimorphism -23HphI in the INS gene (rs689): the association with type 1 diabetes mellitus in the populations of the Russian Federation, the inter-population comparison of the frequencies. Problems of Endocrinology. 2014;60(6):4‑9. (In Russ.)
https://doi.org/10.14341/probl20146064-9

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Abstract:

Objective. The objective of the present study was to elucidate the association between dimorfism -23HphI in the INS gene (rs689) and type 1 diabetes mellitus in several populations of the Russian Federation and to compare the frequency of alleles of this dimorphism in different populations. Material and methods. The case-control association was investigated in five populations of the Russian Federation, viz. Russian, Bashkir, Udmurtian, Yakutian, and Buryat ones. The DNA samples from 528 patients presenting with type 1 diabetes mellitus and 439 control subjects were available for the investigation, Polymorphism typing was performed using the RFLP-PCR technique. The degree of association of the trait of interest with the disease was estimated based on the odd ratio (OR) values. The calculations were made with the use of Statistica software package, version 6, www.statsoff.com and Microsoft Office Excel-2003. Results. The statistically significant association of type 1 diabetes mellitus with T allele and AA rs689 genotype was documented for the Russian, Bashkir, Udmurtian, and Yakutian populations. The protective marker in these populations were T allele and T+ genotype. A similar association was not found for the Buryat population characterized by the lowest diabetes morbidity rate. This population was significantly different from the remaining ones in the high frequency of A allele (87% vs 69-75%; p є [0.0002-0.004]) and AA genotype (77% vs 45-60%; p є [0.00006-0.01]). Conclusion. This study has demonstrated the inter-population differences in the frequency of rs689 alleles and the population-specific differences in the association of rs689 alleles with type 1 diabetes mellitus. It is concluded that the consideration of population-related peculiarities of clinical and genetic associations is an indispensable precondition for the further development of personalized medicine.

Keywords:

type 1 diabetes mellitus

Russian

Bashkir

Udmurtian

Yakutian

and Buryat ethnic groups

INS

rsb689

association

Authors:

Ivanova O.N.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Stepanova S.M.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia, Moskva

Smirnova N.B.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Zvereva Ia.S.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia, Moskva

Suntsov Iu.I.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Bardymova T.P.

Irkutskaia gosudarstvennaia meditsinskaia akademiia poslediplomnogo obrazovaniia, Minzdrava Rossii, Irkutsk, Rossiia

Danilova G.I.

GBU "Respublikanskaia bol'nitsa #1 - Natsional'nyĭ tsentr meditsiny", Iakutsk, Rossiia

Kovalenko T.V.

GOU VPO "Izhevskaia gosudarstvennaia meditsinskaia akademiia", Izhevsk, Rossiia

Titovich E.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Kuraeva T.L.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Dedov I.I.

Endocrinology Research Centre

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