Полногеномное ассоциативное исследование: анализ ассоциации параноидной шизофрении с полиморфными локусами, локализованными в хромосомных областях 4p15.2 и 20q13.31

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Аннотация

На протяжении пятнадцати лет полногеномные ассоциативные исследования (GWAS) позволили выявить несколько миллионов полиморфных маркеров риска развития шизофрении, значительно продвинув наше понимание генетической архитектуры шизофрении. Целью настоящего исследования явилось изучение генетических факторов риска развития шизофрении при проведении полногеномного анализ ассоциации у русских, татар и башкир из Республики Башкортостан. Исследованная выборка состояла из 816 больных параноидной шизофренией и 989 здоровых индивидов. Полногеномное генотипирование образцов ДНК было проведено на биочипе PsychChip, включавшим 610 000 однонуклеотидных полиморфных вариантов (ОНП). В результате проведенного исследования впервые установлена ассоциация ОНП rs73254185 (4p15.2) и rs587778384 гена GNAS (20q13.31) с риском развития параноидной шизофрении у индивидов различной этнической принадлежности, русских, татар и башкир, проживающих в Республике Башкортостан, что вероятно может свидетельствовать о вовлеченности, локализованных в данных хромосомных областях генов PI4K2B и GNAS в патогенез шизофрении.

Об авторах

А. Э. Гареева

Институт биохимии и генетики Уфимского федерального исследовательского центра
Российской академии наук; Башкирский государственный медицинский университет Минздрава России

Автор, ответственный за переписку.
Email: annagareeva@yandex.ru
Россия, 450054, Уфа; Россия, 450008, Уфа

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