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IS RS122537 POLYMORPHISM OF TCF7L2 GENE A COMMON MARKER FOR METABOLIC SYNDROME OR ONLY FOR ITS COMPONENTS?

https://doi.org/10.18705/2311-4495-2014-0-3-82-87

Abstract

Objective. We aimed to estimate allele frequency and association of the genetic marker TCF7L2 gene (T-risk allele of rs1225537 SNP of TCF7L2 gene) with hyperglycemia, lipids and abdominal obesity in Saint-Petersburg residents. Materials and Methods. As a part of all-Russian epidemiology survey ESSE-RF, random sampling of 1600 Saint-Petersburg inhabitants stratified by age and sex was involved. All subjects signed informed consent and filled in questionnaire regarding lifestyle risk factors. Anthropometry (weight, height with body mass index (BMI) calculation, waist circumference), blood pressure (BP) and heart rate measurement and fasting blood-tests (lipids, glucose (Abbott Architect 8000, Roche Diagnostics) were performed. Genomic DNA was extracted from blood samples using magnetic bead technology. The TCF7L2 polymorphism rs1225537 was determined using real time PCR method by allele-specific probes (Applied Biosystems). Results: Female carriers of T allele (TT + GT genotypes) had tendency to have higher cholesterol level (5,6 ± 1,3 mmol/l; 5,4 ± 1,3 mmol/l; p = 0,04) compared to females with GG genotype. Among females carriers of T allele only hyperglycemia was observed more frequently compared with female carriers of G allele. The frequency of T- risk allele was 22,6 %. Conclusions: The TCF7L2 genetic variant rs1225537 is associated only with hyperglycemia in Saint-Petersburg residents. The frequency of T allele in Saint-Petersburg residents is the same as in general population (20 %).

About the Authors

N. V. Khromova
Federal Almazov Medical Research Centre
Russian Federation


O. P. Rotar
Federal Almazov Medical Research Centre
Russian Federation


E. A. Dudorova
Federal Almazov Medical Research Centre
Russian Federation


E. P. Kolesova
Federal Almazov Medical Research Centre
Russian Federation


E. V. Moguchaya
Federal Almazov Medical Research Centre
Russian Federation


M. A. Boyarinova
Federal Almazov Medical Research Centre
Russian Federation


A. S. Alieva
Federal Almazov Medical Research Centre
Russian Federation


E. Yu. Vasilyeva
Federal Almazov Medical Research Centre
Russian Federation


V. A. Yudina
Federal Almazov Medical Research Centre
Russian Federation


O. D. Belayeva
First Pavlov State Medical University
Russian Federation


E. A. Bazchenova
First Pavlov State Medical University
Russian Federation


E. I. Baranova
First Pavlov State Medical University
Russian Federation


V. N. Solncev
Federal Almazov Medical Research Centre
Russian Federation


A. A. Kostareva
Federal Almazov Medical Research Centre
Russian Federation


A. O. Konradi
Federal Almazov Medical Research Centre
Russian Federation


References

1. WHO Library Cataloguing-in-Publication Data. World health statistics 2012 // [Электронный ресурс]. URL: http://www.who.int/gho/publications/world_health_statistics/EN_WHS2013_Full.pdf

2. Mottillo S., Filion K.B., Genest J. et al. The metabolic syndrome and cardiovascular risk: a systematic review and meta-analysis. J Am Coll Cardiol. 2010; 56, № 14: 1113-32.

3. Научно-организационный комитет проекта ЭССЕ-РФ Эпидемиология сердечно-сосудистых заболеваний в различных регионах России (ЭССЕ-РФ). Обоснование и дизайн исследования. // Профилактическая медицина. - 2013. - № 6. - С. 25-34.

4. Scott L.J., Mohlke R.L., Bonnycastle L.L. et al. Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants // Science. - 2007. - № 316(5829). - P. 1341-1345.

5. Sladek R., Rocheleau G., Rung J. et al. A genome-wide association study identifies novel risk loci for type 2 diabetes // Nature. - 2007. - Feb 22. - P. 881-885.

6. Wang J., Zhang J., Li L. et al. Association of rs122537 in the TCF7L2 gene with type 2 diabetes mellitus: a metaanalysis // Brazilian Journal of Medical and Biological Research. - 2013. - Vol. 46, № 4. - P. 382-393.

7. Jin T., Liu L. The Wnt signaling pathway effector TCF7L2 and type 2 diabetes mellitus // Molecular Endocrinology. - 2008. - Vol. 22, № 11. - P. 2383-2392.

8. Helgason A., Palsson S., Thorleifsson G. et al. Refinding the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution // Nat. Genet. - 2007. - Vol. 39, № 2. - P. 218-225.

9. Prunier C., Hocevar B.A., Howe P.H. et al. Wnt signaling: physiology and pathology // Growth Factors. - 2004. - Vol. 22, № 3. - P. 141-150.

10. Yi F., Brubaker P.L., Jin T. TCF-4 mediates cell type-specific regulation of proglucagon gene expression by beta-catenin and glycogen synthase kinase-3 beta // J. Biol. Chem. - 2005. - Vol. 280, № 2. - P. 1457-1464.

11. Grant S.F., Thorleifsson G., Reynisdottir I. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes // Nat. Genet. - 2006. - № 38. - P. 320-323.

12. Scott L.J., Mohlke K.L., Bonnycastle L.L. et al. A genome-wide association study of 2 type diabetes in finns detects multiple susceptibility variants // Science. - 2007. - Vol. 316. - № 5829. - P. 1331-1336.

13. Mundellein A., Saely C.H., Geller-Rhomberg S. et al. Single nucleotide polymorphisms of TCF7L2 are linked to diabetic coronary atherosclerosis // PLoS One. - 2011. - Vol. 6, issue 3. - P. e17978.

14. Flores J.C. Newly identified loci highlight beta cell dysfunction as a key cause of type 2 diabetes: where are the insulin resistance genes? // Diabetologia. - 2008. - № 51. - P. 1100-1110.

15. Pearson E.R. Translating Tcf7L2: from gene to function // Diabetologia. - 2009. - № 52. - P. 1227-1230.

16. Lyssenko V., Lupi R., Marchetti P. et al. Mechanisms by which common variants in the TCF7L2 gene increase risk of type 2 diabetes. - J. Clin. Invest. - 2007. - Vol. 117. - P. 2155-2163.

17. Cauchi S., Meyre D., Dina C. et al. Transcription factor TCF7L2 genetic study in the French population: expression in human beta-cells and adipose tissue and strong association with type 2 diabetes // Diabetes. - 2006. - Vol. 55, № 10. - P. 2903-2908.

18. Hayashi T., Iwamoto Y., Kaku K. et al. Replication study for the association of TCF7L2 with susceptibility to type 2 diabetes in a Japanese population // Diabetologia. - 2007. - Vol. 50, № 5. - P. 980-984.

19. Parra E.J., Cameron E., Simmonds L. et al. Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City // Clin. Genet. - 2007. - Vol. 71, № 4. - P. 359-366.

20. Dodhini D., Radha V., Dhar M. et al. The rs12255372 (G/T) and rs7903146 (C/T) polymorphisms of the TCF7L2 gene are association with type 2 diabetes mellitus in Asian Indians // Metabolisms. - 2007. - Vol. 56, № 9. - P. 1174-1178.

21. Хромова Н.В., Ротарь О.П., Ерина А.М. и др. Взаимосвязь rs9939609 полиморфизма гена FTO с метаболическим синдромом и его компонентами в Российской популяции // Артериальная гипертензия. - 2013. - Т. 19, № 4. - С. 311-319.


Review

For citations:


Khromova N.V., Rotar O.P., Dudorova E.A., Kolesova E.P., Moguchaya E.V., Boyarinova M.A., Alieva A.S., Vasilyeva E.Yu., Yudina V.A., Belayeva O.D., Bazchenova E.A., Baranova E.I., Solncev V.N., Kostareva A.A., Konradi A.O. IS RS122537 POLYMORPHISM OF TCF7L2 GENE A COMMON MARKER FOR METABOLIC SYNDROME OR ONLY FOR ITS COMPONENTS? Translational Medicine. 2014;(3):82-87. (In Russ.) https://doi.org/10.18705/2311-4495-2014-0-3-82-87

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ISSN 2311-4495 (Print)
ISSN 2410-5155 (Online)