A ROLE OF MODIFIER GENE TCF7L2 FOR DEVELOPMENT OF DIABETES IN ADULT PATIENTS WITH CYSTIC FIBROSIS
https://doi.org/10.18093/0869-0189-2014-0-2-33-39
Abstract
Methods. Allele and genotype frequencies of 3 gene transcription factor 7-like 2 (TCF7L2) polymorphisms (rs12255372, rs7903146, rs11196205) were investigated in adult patients with СF with or without carbohydrate metabolism disorders, in patients with diabetes mellitus and in controls.
Results. Russian population of rs12255372 polymorphism carriers is in a higher risk of diabetes development. Investigations of rs7903146 polimorphism of TCF7L2 showed that C allele frequency was higher than T allele frequency in all the patients' groups.
Conclusion. C allele and C/C + C/G genotypes seemed to play a protective role and were related to lower risk of carbohydrate metabolism disorders in CF patients. On the contrary, G allele and G/G homozygous genotype were related to 2.0 – 2.5-fold increase in the risk of carbohydrate metabolism disorders.
About the Authors
V. A. SamoylenkoRussian Federation
N. V. Petrova
Russian Federation
G. Yu. Babadzhanova
Russian Federation
A. B. Nagornyy
Russian Federation
S. A. Krasovskiy
Russian Federation
A. G. Chuchalin
Russian Federation
References
1. Капранов Н.И. Эпидемиология, клинико-генетические особенности, лечение и реабилитация больных муковисцидозом. Российский вестник перинатологии и педиатрии. 1997; 2: 16–23. / Kapranov N.I. Epidemiology, clinical and genetic features, treatment and rehabilitation of cystic fibrosis patients. Rossiyskiy vestnik perinatologii i pediatrii. 1997; 2: 16–23 (in Russian).
2. Капранов Н.И. Муковисцидоз. Российский журнал гастроэнтерологии, гепатологии, колонопроктологии. 2000; 1: 62–66. / Kapranov N.I. Cystic fibrosis. Rossiyskiy zhurnal gastroenterologii, gepatologii, kolonoproktologii. 2000; 1: 62–66 (in Russian).
3. Davis P.B. Cystic Fibrosis Since 1938. Am. J. Respir. Crit. Care Med. 2006; 173: 475–482.
4. Самильчук Е.И., Чучалин А.Г. Гетерозиготность по мутации дельта F580 гена муковисцидоза среди больных с хронической обструктивной патологией органов дыхания. Пульмонология. 1994; 3: 47–50. / Samilchuk E.I., Chuchalin A.G. Heterozygosity for delta F580 gene mutations in patients with chronic obstructive respiratory disease. Pul'monologiya. 1994; 3: 47–50 (in Russian).
5. Красовский С.А., Черняк А.В., Амелина Е.Л. и др. Динамика выживаемости больных муковисцидозом в Москве и Московской области за периоды 1992–2001 и 2002–2011 гг. Пульмонология. 2012; 3: 79–86. / Krasovskiy S.A., Chernyak A.V., Amelina E.L. et al. Survival dynamics in cystic fibrosis patients in Moscow and Moscow region in 1992–2001 and 2002–2011. Pul'monologiya. 2012; 3: 79–86 (in Russian).
6. Fischman D., Nookala V.K. Cystic fibrosis-related diabetes mellitus: etiology, evaluation, and management. Endocr. Pract. 2008; 14 (9): 1169–1179.
7. MacDonald A., Holden C., Harris G. Nutritional strategies in cystic fibrosis: current issues. J. Roy. Soc. Med. 1991; 84 (18): 28–35.
8. Красовский С.А., Никонова В.С., Каширская Н.Ю. и др. Клинико-генетическая, микробиологическая и функциональная характеристика больных муковисцидозом, проживающих в Москве и Московской области. Вопросы современной педиатрии. 2013; 12 (1): 17–23. / Krasovskiy S.A., Nikonova V.S., Kashirskaya N.Yu. et al. Clinical, genetic, microbiological and functional parameters of patients with cystic fibrosis living in Moscow and Moscow region. Voprosy sovremennoy pediatrii. 2013; 12 (1): 17–23 (in Russian).
9. Godbout A., Hammana I., Potvin S. et al. No relationship between mean plasma glucose and glycated haemoglobin in patients with cystic fibrosis-related diabetes. Diabet. Metab. 2008; 34 (6, Pt 1): 568–573.
10. Tierney S., Webb K., Jones A. et al. Living with cystic fibrosis-related diabetes or type 1 diabetes mellitus: a comparative study exploring health-related quality of life and patients' reported experiences of hypoglycaemia. Chron. Illn. 2008; 4 (4): 278–288.
11. WHO. Diabetes Mellitus: Report of a WHO Study Group. Technical Report Series 727. Geneva, WHO, 1985.
12. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabet. Care. 1997; 20: 1183–1197.
13. Каширская Н.Ю. Состояние желудочно-кишечного тракта, поджелудочной железы и гепатобилиарной системы у больных муковисцидозом: Дис. … д-ра мед. наук. М.; 2001. / Kashirskaya N.Yu. Digestive Tract, Pancreas and Hepatobiliary System in Patients with Cystic Fibrosis: Diss. [Sostoyanie zheludochno-kishechnogo trakta, podzheludochnoy zhelezy i gepatobiliarnoy sistemy u bol'nykh mukovistsidozom]. Moscow, 2001 (in Russian).
14. Blackman S.M., Hsu S., Vanscoy L.L. et al.Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis. J. Clin. Endocrinol. Metab. 2009; 94 (4): 1302–1309.
15. Tong Y., Lin Y., Zhang Y. et al. Association between TCF7L2 gene polymorphisms and susceptibility to type 2 diabetes mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis. BMC Med. Genet. 2009; 10: 15.
16. Bodhini D., Radha V., Dhar M. et al. The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are associated with type 2 diabetes mellitus in Asian Indians. Metabolism 2007; 56 (9): 1174–1178.
17. Finkelstein S.M., Wielinski C.L., Elliott G.R. et al. Diabetes mellitus associated with cystic fibrosis. J. Pediatr. 1988; 112:373–377.
18. Moran A., Diem P., Klein D.J. et al. Pancreatic endocrine function in cystic fibrosis. J. Pediatr. 1991; 118: 715–723.
19. Garagorri J.M., Rodriguez G., Ros L., Sanchez A. Early detection of impaired glucose tolerance in patients with cystic fibrosis and predisposition factors. J. Pediatr. Endocrinol. Metab. 2001; 14: 53–60.
20. Milla C.E., Warwick W.J., Moran A. Trends in pulmonary function in patients with cystic fibrosis correlate with the degree of glucose intolerance at baseline. Am. J. Respir. Crit. Care Med. 2000; 162: 891–895.
21. Yung B., Noormohamed F.H., Kemp M. et al. Cystic fibrosisrelated diabetes: the role of peripheral insulin resistance and beta-cell dysfunction. Diabet. Med. 2002; 19: 221–226.
22. Dobson L., Sheldon C.D., Hattersley A.T. Understanding cystic-fibrosis-related diabetes: best thought of as insulin deficiency? J. Roy. Soc. Med. 2004; 97 (Suppl. 44): 26–35.
23. Ali B.R. Is cystic fibrosis-related diabetes an apoptotic consequence of ER stress in pancreatic cells? Med. Hypothes. 2009; 72 (1): 55–57.
24. Самойленко В.А., Красовский С.А., Марченков Я.В. и др. Клинические особенности течения муковисцидоза у взрослых больных с нарушением углеводного обмена. Терапевтический архив. 2013; 3: 32–37. / Samoylenko V.A., Krasovskiy S.A., Marchenkov Ya.V. et al. Clinical features of cystic fibrosis in adults with carbohydrate metabolism disorders. Terapevticheskiy arkhiv. 2013; 3: 32–37 (in Russian).
25. Dobson L., Sheldon C.D., Hattersley A.T. Validation of interstitial fluid continuous glucose monitoring in cystic fibrosis. Diabetes Care 2003; 26: 1940–1941.
26. Florez J.C., Jablonski K. A., Bayley N. TCF7L2 polymorphisms and progression to diabetes in the diabetes prevention program. N. Engl. J. Med. 2006; 355 (3): 241–250.
27. Liu Z., Habener J. F. Glucagon-like peptide-1 activation of rCFZL2-dependent Wnt signaling enhances pancreatic beta cell proliferation. J. Biol. Chem. 2008; 283: 8723–8735.
28. Van Vliet-Ostaptchouk J. V. et al. Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort. Diabetologia 2007; 50 (1): 59–62.
29. Chandak G. R., Janipalli C.S., Bhaskar S. et al. Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia. 2007; 50 (1): 63–67.
30. Grant S.F., Thorleifsson G., Reynisdottir I. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genet. 2006; 38: 320–323.
Review
For citations:
Samoylenko V.A., Petrova N.V., Babadzhanova G.Yu., Nagornyy A.B., Krasovskiy S.A., Chuchalin A.G. A ROLE OF MODIFIER GENE TCF7L2 FOR DEVELOPMENT OF DIABETES IN ADULT PATIENTS WITH CYSTIC FIBROSIS. PULMONOLOGIYA. 2014;(2):33-39. (In Russ.) https://doi.org/10.18093/0869-0189-2014-0-2-33-39