Value of medical genetic consultation at digestive organs diseases
Abstract
The aim of review. To discuss value of medical genetic consultation at diseases of gastro-intestinal tract (GIT).
Key points. The analysis of frequent hereditary gastroenterological diseases diagnosed with participation of doctor - geneticist. The role of hereditary factors in manifestation of monogenic and multifactorial diseases of a GIT is demonstrated. Value of modern molecular genetic technologies for detection of early stages of gastroenterological diseases is proved. General indications for medical genetic consultation for all gastrointestinal diseases are determined.
Conclusion. Detection of disorders of functioning of various genes and duly medical genetic consultation allow to carry out early diagnostics, choose optimum mode of treatment and prevent diseases of GIT.
About the Author
T. V. FilippovaRussian Federation
References
1. Гарькавцева Р.Ф., Белев Н.Ф. Генетические аспекты рака толстой кишки // Новое в терапии колоректального рака. СПб–М., 2001. – С. 10–16.
2. Кандикова В.А., Шумилов П.В., Щагина О.А., Поляков А.В. Молекулярно-генетические исследования аутовоспалительных заболеваний кишечника у российских больных: Материалы VI съезда Российского общества медицинских генетиков // Мед. генетика (приложение). – 2010. – № 5. – С. 77.
3. Кузнецов А.С., Фомина И.Г., Тарзиманова А.И. и др. Дифференциальная диагностика доброкачественных билирубинемий// Клин. мед. – 2001. – № 3. – С. 8–13.
4. Лоранская И.Д., Степанова Е.В., Халиф И.Л. и др. Взаимосвязь клинических аспектов болезни Крона с носительством полиморфных вариантов гена NOD 2/ CARD 15 // Колопроктология. – 2009. – № 4 (30). – С. 10–17.
5. Любченко Л.Н. Клинико-генотипические варианты семейного рака толстой кишки // Практ. онкология. – 2005. – № 2. – С. 132–136.
6. Чиссов В.И. Злокачественные новообразования в России в 2010 году: заболеваемость и смертность // ФГБУ МНИОИ им. П.А. Герцена. – 2012. – № 1. – С. 17–136.
7. Электронная база OMIM: http: //www.ncbi.nlm.nih. gov/tntrez/dispomim.cgi?id = 266600.
8. Ahlguist D. Molecular detection of colorectal neoplasia // Gastroenterology. – 2010. – Vol. 138 (6). – P. 2127– 2139.
9. Barrett J.C., Hansoul S., Nicolae D.L. et al. Genome – wide association defines more than 30 distinct susceptibility loci for Crohn disease // Nat. Genet. – 2008. – Vol. 40. – P. 955–962.
10. Bretthauer M. Evidence for colorectal cancer screening // Best. Pract. Res.Clin. Gastroenterol. – 2010. – Vol. 24 (4). – P. 417–425.
11. Ferraris A., D’Amato G., Nobili V. et al. Combined test for UGT1A1 –3279T–>G and A(TA)nTAA polymorphisms best predicts Gilbert’s syndrome in Italian pediatric patients. // Genet. Test. – 2006. – Vol. 10. – Р. 121–125.
12. Friedrichs F., Brescianini S., Annese V. et al. Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in man // Hum. Genet. – 2006. – Vol. 119. – P. 305–311.
13. Hampe J., Franke A., Rosenstiel Ph. et al. A genome – wide association scan of nonsynonymous SNP identifies a susceptibility variant for Crohn disease in ATG1AL1 // Nat. Genet. – 2006. – Vol. 39. – P. 207–211.
14. He Q., Chen H. Development of a multiplex MetyLight assay for the detection of multigene methylation in human colorectal cancer // Cancer Genet. Cytogenet. – 2010. – Vol. 202 (1). – P. 1–10.
15. Mukherjee S. Gilbert syndrome, e Medicine, Last Update 15 May 2008. http: // www.emedicine. com/med/ TOPIC 870.
16. Sumoto R., Laosombat V., Sadeva A.N. et al. Novel missens mutation on the UGT 1A1 gene in the siblings with Gilbert’s syndrome // Pediatr. Int. – 2002. – Vol. 44 (4). – P. 427–432.
17. Tang D., Liu J., Wang D. Diagnostic and prognostic value of the methylation status of secreted frizzled-related protein 2 in colorectal cancer // Clin. Invest. Med. – 2011. – Vol. 34 (2). – P. 88–95.
18. Zlobec I., Bihl M., Schwarb H. Clinicopathological and protein characterization of BRAF – and K-RAS-mutated colorectal cancer and implications for prognosis // Int. J. Cancer. – 2010. – Vol. 127 (2). – P. 367–380.
Review
For citations:
Filippova T.V. Value of medical genetic consultation at digestive organs diseases. Russian Journal of Gastroenterology, Hepatology, Coloproctology. 2014;24(1):56-61. (In Russ.)