PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation

Aim. To evaluate the association of rs2476601 and rs2488457 polymorphisms with type 1 diabetes mellitus (T1DM) in several ethnic populations of Russian Federation and to estimate the cross-populational differences of these polymorphisms.Materials and Methods. A case-control design was applied to stu...

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Autores principales:	O N Ivanova, Sergey Alexandrovich Prokof'ev, Natalia Borisovna Smirnova, Yulia Vladimirovna Tishina, Tatiana Prokop'evna Bardymova, G I Danilova, T V Kovalenko, Elena Vital'evna Titovich, Tamara Leonidovna Kuraeva, Valentina Alexandrovna Peterkova, Ivan Ivanovich Dedov
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2013
Materias:	ptpn22 udmurt russian bashkir buryat yakut ethnic group polymorphism Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/e365936b8adc496394989fb65e652783
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spelling	oai:doaj.org-article:e365936b8adc496394989fb65e6527832021-11-14T09:00:18ZPTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation2072-03512072-037810.14341/2072-0351-3750https://doaj.org/article/e365936b8adc496394989fb65e6527832013-06-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/3750https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Aim. To evaluate the association of rs2476601 and rs2488457 polymorphisms with type 1 diabetes mellitus (T1DM) in several ethnic populations of Russian Federation and to estimate the cross-populational differences of these polymorphisms.Materials and Methods. A case-control design was applied to study the aforementioned polymorphisms in five ethnic populations of Russian Federation: Bashkir, Yakut, Buryat, Udmurt, Russian. We analyzed DNA samples from 491 patients with T1DM and 408 control subjects. Polymorphisms were identified with RFLP-PCR and RT-PCR. Strength of association was evaluated as odds ratio (OR). All calculations were performed with StatSoft STATISTICA (version 6) and Microsoft Excel 2003 software applications.Results. PTPN22 1858Т+ genotypes were associated with T1DM in Udmurt, Russian and Bashkir populations and PTPN22 1123C+ genotype in Buryat population. We did not find any associations of PTPN22 gene polymorphisms with T1DM in Yakut population. Cross-ethnic comparison of polymorphism frequencies showed statistically significant differences. Allele frequency distribution in Buryat population significantly differs from that of other studied ethnic groups with G-1123C (rs2488457; 71.3%) being a significantly more common finding than C type allele. Russian population of Moscow and Moscow Region is also characterized by higher prevalence of Ttype allele (13%) in C1858Т (rs2476601) polymorphism.Conclusion. Ethnic populations of Asian regions of Russian Federation, characterized by lower rates of T1DM (Yakut and Buryat) demonstrated highest prevalence of G-allele in G-1123C (rs2488457) polymorphism. On the contrary, analyses from Russian population of Moscow and Moscow Region, known to have higher rates of T1DM, suggest higher prevalence of T-allele in C1858Т (rs2476601) polymorphism.O N IvanovaSergey Alexandrovich Prokof'evNatalia Borisovna SmirnovaYulia Vladimirovna TishinaTatiana Prokop'evna BardymovaG I DanilovaT V KovalenkoElena Vital'evna TitovichTamara Leonidovna KuraevaValentina Alexandrovna PeterkovaIvan Ivanovich DedovEndocrinology Research Centrearticleptpn22udmurtrussianbashkirburyatyakutethnic groupptpn22polymorphismNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 16, Iss 2, Pp 4-10 (2013)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	ptpn22 udmurt russian bashkir buryat yakut ethnic group ptpn22 polymorphism Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	ptpn22 udmurt russian bashkir buryat yakut ethnic group ptpn22 polymorphism Nutritional diseases. Deficiency diseases RC620-627 O N Ivanova Sergey Alexandrovich Prokof'ev Natalia Borisovna Smirnova Yulia Vladimirovna Tishina Tatiana Prokop'evna Bardymova G I Danilova T V Kovalenko Elena Vital'evna Titovich Tamara Leonidovna Kuraeva Valentina Alexandrovna Peterkova Ivan Ivanovich Dedov PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation
description	Aim. To evaluate the association of rs2476601 and rs2488457 polymorphisms with type 1 diabetes mellitus (T1DM) in several ethnic populations of Russian Federation and to estimate the cross-populational differences of these polymorphisms.Materials and Methods. A case-control design was applied to study the aforementioned polymorphisms in five ethnic populations of Russian Federation: Bashkir, Yakut, Buryat, Udmurt, Russian. We analyzed DNA samples from 491 patients with T1DM and 408 control subjects. Polymorphisms were identified with RFLP-PCR and RT-PCR. Strength of association was evaluated as odds ratio (OR). All calculations were performed with StatSoft STATISTICA (version 6) and Microsoft Excel 2003 software applications.Results. PTPN22 1858Т+ genotypes were associated with T1DM in Udmurt, Russian and Bashkir populations and PTPN22 1123C+ genotype in Buryat population. We did not find any associations of PTPN22 gene polymorphisms with T1DM in Yakut population. Cross-ethnic comparison of polymorphism frequencies showed statistically significant differences. Allele frequency distribution in Buryat population significantly differs from that of other studied ethnic groups with G-1123C (rs2488457; 71.3%) being a significantly more common finding than C type allele. Russian population of Moscow and Moscow Region is also characterized by higher prevalence of Ttype allele (13%) in C1858Т (rs2476601) polymorphism.Conclusion. Ethnic populations of Asian regions of Russian Federation, characterized by lower rates of T1DM (Yakut and Buryat) demonstrated highest prevalence of G-allele in G-1123C (rs2488457) polymorphism. On the contrary, analyses from Russian population of Moscow and Moscow Region, known to have higher rates of T1DM, suggest higher prevalence of T-allele in C1858Т (rs2476601) polymorphism.
format	article
author	O N Ivanova Sergey Alexandrovich Prokof'ev Natalia Borisovna Smirnova Yulia Vladimirovna Tishina Tatiana Prokop'evna Bardymova G I Danilova T V Kovalenko Elena Vital'evna Titovich Tamara Leonidovna Kuraeva Valentina Alexandrovna Peterkova Ivan Ivanovich Dedov
author_facet	O N Ivanova Sergey Alexandrovich Prokof'ev Natalia Borisovna Smirnova Yulia Vladimirovna Tishina Tatiana Prokop'evna Bardymova G I Danilova T V Kovalenko Elena Vital'evna Titovich Tamara Leonidovna Kuraeva Valentina Alexandrovna Peterkova Ivan Ivanovich Dedov
author_sort	O N Ivanova
title	PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation
title_short	PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation
title_full	PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation
title_fullStr	PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation
title_full_unstemmed	PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation
title_sort	ptpn22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of russian federation
publisher	Endocrinology Research Centre
publishDate	2013
url	https://doaj.org/article/e365936b8adc496394989fb65e652783
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PTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian Federation

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