Роль генетического полиморфизма гена рецептора витамина D (VDR ) в п атогенезе ювенильного идиопатического артрита : теоретические и практические аспекты

Ювенильный идиопатический артрит (ЮИА) – хроническое воспалительное заболевание суставов, связанное с нарушением работы иммунной системы. Особенности течения ЮИА могут быть генетически детерминированы.

Цель исследования – дать оценку активности ЮИА у детей с ApaI и BsmI полиморфными генотипами гена рецептора витамина D (VDR).

Материал и методы. В исследование включен 71 ребенок, страдающий ЮИА. На момент включения в исследование все пациенты находились в активном состоянии болезни. Оценка активности ЮИА осуществлялось при помощи наиболее часто используемых клинических и лабораторных показателей, в том числе суставного индекса Ричи (CИР), индексов JADAS10, JADAS27, JADAS71, CDAI, DAS и DAS28. Молекулярно-генетические исследования – определение ApaI и BsmI полиморфизмов гена VDR при помощи полимеразной цепной реакции с последующим рестрикционным анализом.

Результаты исследования. Мальчики – носители генотипа bb BsmI полиморфного маркера гена VDR – имели достоверно более высокие показатели активности ЮИА, измеренного при помощи СИР (p=0,03), индексов DAS (p<0,05), JADAS10 (p=0,04), JADAS27 (p=0,04) и JADAS71 (p=0,04) по сравнению с носителями аллеля B (BB+Bb генотипы).

Заключение. Носительство генотипа bb BsmI полиморфного маркера гена VDR связано с высокой активностью ЮИА, что может рассматриваться как маркер неблагоприятного прогноза у мальчиков, больных ЮИА.

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