Акушерство и Гинекология Санкт-Петербурга. 2017; : 58-69
Выбор оптимальной панели исследования одиночных нуклеотидных полиморфизмов перед ЭКО
Аннотация
В настоящее время перед подготовкой к процедуре ЭКО пациентам необходимо пройти ряд плановых исследований, в том числе определение аллелей одиночных нуклеотидных полиморфизмов (single nucleotide polymorphisms, SNP). Данные исследования не включены в большинство страховых программ и, как правило, оплачиваются пациентами отдельно. Имеются предпосылки к исследованию более 50 полиморфизмов. Важной задачей становится определение оптимальной панели исследования по соотношению цена/число SNP.
За 2009-2015 годы в Университетской клинике СПбГУ были проанализированы образцы крови 550 женщин с различными нарушениями репродуктивной системы, готовящихся к ЭКО, и 46 здоровых женщин в контрольной группе. Проанализированы 28 SNP в генах факторов тромбофилии, цикла фолиевой кислоты, системы детоксикации и системы ренин-ангиотензина. Показано достоверное повышение частоты патологических аллелей ряда полиморфизмов у пациенток с привычной неудачей ЭКО по сравнению с контрольной группой.
В результате определено два варианта оптимальных панелей для типирования SNP перед ЭКО. Стандартная панель из 8 SNP включает полиморфизмы 20210 G > A гена F II, R506Q G > A гена F V (Лейденская мутация), -675 5G > 4G гена PAI-I, L33P T > C гена ITGB3, -455 G > A гена FGB, 667 C > T гена MTHFR, 2756 A > G гена MTR, 66 A > G гена MTRR. Расширенная панель из 15 SNP включает также 807 C > T гена ITGA2, T154M C > T гена GP1BA, второй полиморфизм 1298 A > C гена MTHFR, полиморфизмы генов системы ренин-ангиотензина M235T T > C гена AGT и -1166 A > C гена AGTR1, полиморфизмы гена системы детоксикации GSTP I105V A > G и A114V C > T.
Показано, что по результатам генотипирования SNP может быть скорректирована тактика лечения и ЭКО, медикаментозное сопровождение полученной беременности. В результате повышается уровень успеха ЭКО, особенно в группе с привычной неудачей ЭКО.
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Obstetrics and Gynaecology of Saint-Petersburg. 2017; : 58-69
Toward optimal set of single nucleotide polymorphism testing before IVF
Abstract
Background. At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphisms (SNP) alleles of some genes. In former USSR countries such investigation does not included in overwhelming majority of health insurance programs and paid by patient. In common there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyp-ing in terms of price/number of SNP.
Materials and methods. During 2009-2015 in the University Hospital of St. Petersburg State University were analyzed blood samples from 550 women with different reproductive system disorders preparing for IVF and 46 healthy women in control group. In total 28 SNP were analyzed in the genes of thrombophilia factors, folic acid cycle, detoxification system and the renin-angiotensin system. The method used was Real-Time PCR.
Results. It was shown a significant increase in the frequency of pathological alleles of some polymorphisms in patients with habitual failure of IVF, compared with the control group. As a result two options defined panels for optimal typing SNP before IVF were composed. Standard panel includes 8 SNP, 5 in thromborhilic factors and 3 in folic acid cycle genes. They are 20210 G > A of F II gene, R506Q G > A of FV gene (mutation Leiden), -675 5G > 4G of PAI-I gene, L33P T > C of ITGB3 gene, -455 G > A of FGB gene, 667 C > T of MTHFR gene, 2756 A > G of MTR gene and 66 A > G of MTRR gene. Extended panel of 15 SNP also includes 807 C > T of ITGA2 gene, T154M C > T of GP1BA gene, second polymorphism 1298 A > C in MTHFR gene, polymorphisms of the renin-angiotensin gene AGT M235T T > C and -1166 A > C of AGTR1 gene, polymorphisms I105V A > G and A114V C > T of detoxification system gene GSTP.
Conclusion. The results of SNP genotyping can be adjusted for treatment tactics and IVF, and also medical support getting pregnant. The success rate of IVF is increased as the result, especially in the group with the usual failure of IVF.
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