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Pervichnaya otkrytougol'naya glaukoma (POUG) — eto mnogofaktornoe zabolevanie, v razvitii kotorogo znachimuyu rol' igrayut nasledstvennye faktory. Rasprostranennost' POUG imeet gendernye osobennosti — zabolevanie chashche vyyavlyayut u zhenshchin. Rezul'taty polnogenomnyh issledovanij (GWAS) svidetel'stvuyut v pol'zu associacii polimorfizma gena CDKN2B-AS1 s POUG. Cel'yu issledovaniya bylo replikativnoe izuchenie associacij polimorfnyh lokusov gena CDKN2B-AS1 s POUG u zhenshchin Central'nogo CHernozem'ya Rossii. U 290 pacientok s POUG i 220 zhenshchin kontrol'noj gruppy bylo vypolneno genotipirovanie pyati odnonukleotidnyh polimorfizmov (SNP) gena CDKN2B-AS1 — rs1063192, rs7865618, rs2157719, rs944800 i rs4977756. Pri ispol'zovanii algoritma «Solid Spine» (zadannyj porog D’ &gt; 0,8) byli vyyavleny razlichiya v strukture blokov scepleniya po issleduemym pyati SNP gena CDKN2B-AS1 mezhdu bol'nymi POUG (bloki scepleniya otsutstvovali) i kontrolem (ustanovlen blok scepleniya, sostoyashchij iz trekh SNP — rs1063192, rs7865618 i rs2157719). U zhenshchin gaplotip GGG rs1063192–rs7865618–rs2157719 gena CDKN2B-AS1 associirovan s POUG — on yavlyaetsya protektivnym faktorom razvitiya zabolevaniya (OSH = 0,66; p = 0,006, rperm = 0,037).

Polimorfizm gena CDKN2B-AS1 associirovan s pervichnoj otkrytougol'noj glaukomoj u zhenshchin Central'nogo CHernozem'ya Rossii