В ПОИСКАХ ОПТИМАЛЬНОЙ ПАНЕЛИ ИССЛЕДОВАНИЙ ОДИНОЧНЫХ НУКЛЕОТИДНЫХ ПОЛИМОРФИЗМОВ (SNP) ПРИ СИНДРОМЕ РАЗДРАЖЕННОГО КИШЕЧНИКА

Генетическая составляющая развития мультифакторных заболеваний, к которым относится синдром раздраженного кишечника (СРК), представлена, как правило, одиночными нуклеотидными полиморфизмами (SNP). Выявление ассоциаций полиморфизмов генов с различными патологиями, даже если они не являются этиологическими факторами, исключительно важно, поскольку может быть использовано в диагностических целях и при разработке лекарственной терапии. Всего было обследовано 94 пациента с различными СРК. Контрольную группу из 31 человека составили жители Санкт-Петербурга без СРК и воспалительных заболеваний кишечника в анамнезе. Все пациенты заполнили информированное согласие на предоставление биологических образцов для анонимных научных исследований. Определение аллелей SNP проводилось с использованием метода минисеквенирования с последующим масс-спектрометрическим анализом продукта Анализ отдельных полиморфизмов не обнаружил их однозначной связи с предрасположенностью к СРК. Вероятно, несколько генетических факторов риска совместно с воздействием окружающей среды вызывают синергический эффект, приводящий к возникновению СРК определенного фенотипа. В данной работе представлена панель исследований из пяти SNP, являющихся наследственными факторами нарушения процессов врожденного иммунитета: CD14-159 C>T (rs2569190); TNF-α -308 G>A (rs1800629); IL17A -197 G>A (rs2275913); TLR2 Arg753Gln G>A (rs5743708); TLR4 Asp299Gly A>G (rs4986790). Результаты свидетельствуют о генетически детерминированной предрасположенности к СРК при увеличении количества «редких» аллелей в исследуемых областях генов CD14, TNF-α и TLR4. Носительство гетерозиготного генотипа GA полиморфизма IL17A -197 G>A также является фактором риска развития СРК в обследованной популяции. Напротив, носительство «редкого» аллеля полиморфизма Arg753Gln G>A гена TLR2 обладает протективными, а нормального - предиктивными свойствами в контексте развития СРК.

одиночный нуклеотидный полиморфизм, синдром раздраженного кишечника, цитокины

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