Анализ мутаций гена MEFV у женщин с бесплодием и семейной средиземноморской лихорадкой
Аннотация
Об авторах
П. О. СоцкийРоссия
О. Л. Соцкая
Россия
Т. Ф. Саркисян
Россия
А. С. Айрапетян
Россия
А. Р. Егиазарян
Россия
С. А. Атоян
Россия
Список литературы
1. Ben-Chetrit E., Levy M. Reproductive system in familial Mediterranean fever: an overview. Ann Rheum Dis 2003; 62:916-919. doi: 10.1136/ard.62.10.916.
2. French FMFC. A candidate gene for Familial Mediterranean Fever. Nat Genet 1997;17:25-31. doi: 10.1038/ng0997-25.
3. Milhavet F., Cuisset L., Hoffman H.M. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90:797-807. doi:10.1016/S0092-8674(00)80539-5.
4. The Infevers Autoinflammatory Mutation Online Registry: Update With New Genes and Functions. Hum Mutat. 2008;29(6):803-808. doi: 10.1002/humu.20720.
5. Ozdogan H., Ugurlu S. Familial Mediterranean Fever. Presse Med. 2019;48(1):61-76. doi:10.1016/j.lpm.2018.08.014.
6. van Jaarsveld C.H., Sanderman R., Ranchor A.V. et al. Gender-specific changes in quality of life following cardiovascular disease: a prospective study. J Clin Epidemiol. 2002;55(11):1105-1112. doi: 10.1016/s0895-4356(02)00506-1.
7. Taylor E. W. The mechanism of colchicine inhibition of mitosis. Kinetics of Inhibition and the Binding of H3-Colchicine. J Cell Biol. 1965;25(1):145-160. doi: 10.1083/jcb.25.1.145
8. Ehrenfeld M., Brzezinski A., Levy M., Eliakim M. Fertility and obstetric history in patients with familial Mediterranean fever on long-term colchicine therapy. Br J Obstet Gynaecol 1987; 94(12): 1186-1191. doi: 10.1111/j.1471-0528.1987.tb02320.x.
9. Ismajovich B., Zemer D., Revach M. et al. The causes of infertility in females with familial editerranean fever. Fertil Steril 1973; 24:844-847.
10. Mamou H. Periodic Disease and Endocrine Disorders. Semin Hop Paris.1970;46:2027-2029.
11. Mijatovic V., Hompes P.G., Wouters M.G. Familial Mediterranean fever and its implications for fertility and pregnancy. Eur J Obstet Gynecol Reprod Biol 2003.10;108(2):171-176. doi:10.1016/s0301-2115(02)00417-7.
12. Zemer D., Pras M., Shemer Y. et al. Daily prophylactic colchicine in familial Mediterranean fever. In: Amyloid and amyloidosis. Proc 3rd International Symposium on Amyloidosis. Amsterdam-Oxford-Prinston: Exerpta Medica 1980:580-583.
13. Kasifoglu T. et al. Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study. Rheumatology (Oxford) 2014; 53:741-745. doi:10.1093/rheumatology/ket400.
14. Ben-Chetrit E., Ben-Chetrit A., Berkun Y., Ben-Chetrit E. Pregnancy outcomes in women with familial Mediterranean fever receiving colchicine: is amniocentesis justified? Arthritis Care Res. 2010; 62(2):143-148. doi: 10.1002/acr.20061.
15. Dotters-Katz S., Kuller J., Price T. The impact of familial Mediterranean fever on women’s health. Obstet Gynecol Surv 2012;67(6):357-364. doi: 10.1097/OGX.0b013e318259ed3a.
16. Yanmaz M.N., Özcan A.J., Savan K. The impact of familial Mediterranean fever on reproductive system. Clin Rheumatol. 2014;33(10):1385-1388. doi: 10.1007/s10067-014-2709-9.
17. Sarı İ., Birlik M., Kasifoğlu T. Familial Mediterranean fever: An updated review. Eur J Rheumatol. 2014;1(1):21-33. doi: 10.5152/eurjrheum.2014.006
18. Livneh A., Langevitz P., Zemer D., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-1885. doi: 10.1002/art.1780401023.
19. Mor A., Shinar Y., Zaks N. et al. Evaluation of diseases verity in familial Mediterranean fever. Semin Arthritis Rheum. 2005;35(1):57-64. doi: 10.1016/j.semarthrit.2005.02.002.
20. Ben-Chetrit E, Ben-Chetrit A. Familial Mediterranean fever and menstruation. BJOG: an international journal of obstetrics and gynaecology. 2001; 108:403-407.
21. Dewalle M., Domingo C., Rozenbaum M. et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet. 1998;6(1):95-97. doi:10.1038/sj.ejhg.5200170.
22. Tunca M., Akar S., Onen F. et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine 2005;84:1-11.doi:10.1097/01.md.0000152370.84628.0c
23. Ben-Chetrit E., Touitou I. Familial Mediterranean Fever in the World. Arthritis Care & Research. 2009;61(10):1447-1453. doi: 10.1002/art.24458.
24. Aksentijevich I., Torosyan Y., Samuels J. et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999;64(4):949-962. doi: 10.1086/302327.
25. Buades J., Ben-Chetrit E., Levy M. Familial Mediterranean fever in the “Chuetas” of Mallorca-origin in inquisition? Isr J Med Sci.1995;31(8):497-499.
26. Domingo C., Touitou I., Bayou A. et al. Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity. Eur J Hum Genet. 2000;8(4):242-246. doi:10.1038/sj.ejhg.5200462
27. Cazeneuve C., Sarkisian T., Pêcheux C. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet. 1999; 65(1):88-97. doi: 10.1016/S0002-9297(07)62944-9.
28. Atoyan S., Hayrapetyan H., Sarkisian T., Ben-Chetrit E. MEFV and SAA1 genotype associations with clinical features of familial Mediterranean fever and amyloidosis in Armenia. Clin Exp Rheumatol 2016;34(6 Suppl 102):72-76.
29. Grossman C., Kassel Y., Livneh A., Ben-Zvi I. Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation. Eur J Med Genet 2019; 62(6):103532. doi: 10.1016/j.ejmg.2018.08.013.
30. Giancane G., TerHaar N.M., Wulffraat N. et al. Evidence-based recommendations forgenetic diagnosis of Familial Mediterranean Fever. Ann Rheum Dis 2015;74(4):635-641. doi:10.1136/annrheumdis-2014-206844.
31. Booty M.G., Chae J.J., Masters S.L. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum. 2009;60(6):1851-1861. doi: 10.1002/art.24569.
32. Marek-Yagel D., Berkun Y., Padeh S. et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009; 60(6):1862-1866. doi: 10.1002/art.24570.
33. Procopio V., Manti S., Bianco G. et al. Genotype-phenotype correlation in FMF patients: A “non classic» recessive autosomal or “atypical» dominant autosomal inheritance? Gene 2018;641:279-286. doi: 10.1016/j.gene.2017.10.068.
34. Federici S., Caorsi R., Gattorno M. The autoinflammatory diseases. Swiss Med Wkly. 2012Jun 19;142:w13602. doi: 10.4414/smw.2012.13602.
35. Yilmaz E., Ozen S. Balci B. et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001;9(7):553-555. doi: 10.1038/sj.ejhg. 5200674.
36. Kogan A., Shinar Y., Lidar M. et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001;102:272-276. doi: 10.1002/ajmg.1438.
37. Fujikura K. Global epidemiology of Familial Mediterranean Fever mutations using population exome sequences. Mol Genet Genomic Med 2015;3:272-282. doi: 10.1002/mgg3.140.
38. Айрапетян А.С., Саркисян Т.Ф., Атоян С.А. Сравнение фенотипических проявлений периодической болезни у гетерозиготных носителей мутаций гена MEFV и гомозигот по тем же мутациям. Медицинская генетика.2016;15(10):45-49.
39. Zadeh N., Getzug T., Grody W.W. Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic. Genet Med. 2011;13(3):263-269. doi: 10.1097/GIM.0b013e31820e27b1.
40. Yasar O., Iskender C., Kaymak O. et al. Retrospective evaluation of pregnancy outcomes in women with familial Mediterranean fever. J Matern Fetal Neonatal Med. 2014; 27(7):733-736. doi:10.3109/14767058.2013.837446
41. Schwabe A.D., Peters R.S. Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine 1974;53(6):453-462. doi: 10.1097/00005792-197411000-00005.
42. Ozen S. Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? Arthritis Rheum. 2009;60:1575-1577. doi:10.1002/art.24565.
43. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Gen 2001;9(7):473-483. doi: 10.1038/sj.ejhg.5200658.
44. Lidar M., Tokov I., Chetrit A. et al. Diagnosis delay in familial Mediterranean fever (FMF): social and gender gaps disclosed. Clin Exp Rheumatol. 2005;23(3):357-363.
45. Waldron I. et al. Sex differences in human mortality: The role of genetic factors. Social Science & Medicine. 1983;(6):321-333. https://doi.org/10.1016/0277-9536(83)90234-4
Рецензия
Для цитирования:
Соцкий П.О., Соцкая О.Л., Саркисян Т.Ф., Айрапетян А.С., Егиазарян А.Р., Атоян С.А. Анализ мутаций гена MEFV у женщин с бесплодием и семейной средиземноморской лихорадкой. Медицинская генетика. 2021;20(2):27-38. https://doi.org/10.25557/2073-7998.2021.02.27-38
For citation:
Sotskiy P.O., Sotskaya O.L., Sarkisian T.F., Hayrapetyan H.S., Yeghiazaryan A.R., Atoyan S.A. Analysis of mutations of the MEFV gene in women with infertility and familial Mediterranean fever. Medical Genetics. 2021;20(2):27-38. (In Russ.) https://doi.org/10.25557/2073-7998.2021.02.27-38