Распространенность генетических маркеров целиакии в различных популяциях

Несмотря на то, что целиакия описано давно, роль генетических факторов и механизмов предрасположенности и/или резистентности к целиакии до настоящего времени окончательного не определена. Такие факторы, как наличие HLA (гетеродимеры DQ2 и DQ8) и глютена в качестве триггера необходимы, но не достаточны для реализации целиакии. Это утверждение подтверждают работы, показывающие, что целиакия диагностировалась у пациентов без присутствия каких-либо признанных факторов риска. Долгое время считалось, что целиакия редко встречается в Азии, но несколько исследований, опубликованных в течение двух последних десятилетий, показали, что Ц выявляется и столь же широко распространена на Индийском субконтиненте и Ближнем Востоке, как и в западных странах. Среди стран Дальнего Востока сообщения о Ц особенно редки как в Корее, так и в Японии, однако выявляемость случаев заболевания в этих странах неуклонно растет. Крайне интересен анализ распространенности HLA-гаплотипов в популяции японцев, как примера, «неклассической» популяции, в которой частоты могут не соответствовать, тем частотам, которые описаны для Западной Европы. Таким образом, увеличение количества полногеномных исследований, размеров выборки позволяет не только нанести на генетическую карту целиакии новые регионы предрасположенности, но и новые генетические варианты уже известных генов, а также новые гены, что в свою очередь позволяет выявлять, детализировать уже известные механизмы развития и прогрессирования заболевания на пути к его терапии.

целиакия, HLA-гаплотипы, не-HLA-гены, рефрактерная целиакия, серонегативная целиакия

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