Identification of alleles of genes TAF5L and PTPN22 predisposing to Type 1 Diabetes in nuclear affected families
https://doi.org/10.18705/1607-419X-2009-15-6-702-706
Abstract
Objective. Type 1 Diabetes (T1D) is a multigeniс autoimmune disease. The study addresses the polymorphism association between PTPN22, TAF5L genes and T1D. Design and methods. 154 nuclear families, each having affected children with T1D and non-diabetic siblings were recruited. The control group included 200 healthy individuals. Single nucleotide polymorphism genotyping of PTPN22 gene ((-1123), 549, 620, 692, 757) and TAF5L gene (241, 375, 744, 1362) were investigated. Results. The increase of AA genotype frequency and the decrease of CC genotype frequency were observed in T1D affected group in 744 codone of the TAF5L gene. The decrease of allele G frequency and the increase of allele C frequency in genotype CC in promoter loci (-1123) of PTPN22 gene were observed in T1D affected group. Conclusion. These data provide a better understanding of mechanisms underlying development of diabetes mellitus and could potentially lead to novel approaches to its treatment.
About the Authors
U. V. Kudryashova
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
A. A. Kostareva
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
E. O. Ulupova
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
A. V. Klushina
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
O. V. Kalinina
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
V. S. Grizina
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
E. N. Grineva
Almazov Federal Heart, Blood and Endocrinology, Centre
Russian Federation
Russian Federation
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Review
For citations:
Kudryashova U.V., Kostareva A.A., Ulupova E.O., Klushina A.V., Kalinina O.V., Grizina V.S., Grineva E.N. Identification of alleles of genes TAF5L and PTPN22 predisposing to Type 1 Diabetes in nuclear affected families. "Arterial’naya Gipertenziya" ("Arterial Hypertension"). 2009;15(6):702-706. (In Russ.) https://doi.org/10.18705/1607-419X-2009-15-6-702-706
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