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Òàêèì îáðàçîì, SNP â ãåíàõ ðåãóëÿòîðíûõ ìîëåêóë íà÷àëüíûõ ýòàïîâ ðàçâèòèÿ âîñïàëèòåëüíîé ðåàêöèè â ðÿäå ñëó÷àåâ îáóñëîâëèâàþò ôóíêöèîíàëüíûå íàðóøåíèÿ, êîòîðûå ïðèâîäÿò ê êîëè÷åñòâåííûì èçìåíåíèÿì ïðîòåêàíèÿ çàùèòíûõ ðåàêöèé (íî íå ê ïîëíîìó ãåíåòè÷åñêîìó äåôåêòó), ÷òî ñêàçûâàåòñÿ íà ðàçâèòèè è èñõîäå èíôåêöèîííûõ çàáîëåâàíèé è èììóíîïàòîëîãè÷åñêèõ ïðîöåññîâ. ×àñòü ðàññìîòðåííûõ SNP-ìóòàöèé âñòðå÷àåòñÿ îòíîñèòåëüíî ðåäêî, îäíàêî íåêîòîðûå — äîñòàòî÷íî ÷àñòî: â 30-45 % ñëó÷àåâ ñðåäè çäîðîâûõ ëèö è äî 80-90 % ïðè îïðåäåëåííûõ ïàòîëîãèÿõ. Áåçóñëîâíî, èçëîæåííûå âûøå äàííûå ñâèäåòåëüñòâóþò ëèøü î ïðåäðàñïîëîæåííîñòè èíäèâèäóóìîâ ñ êîíêðåòíûìè SNP ê òîìó èëè èíîìó çàáîëåâàíèþ èëè èçìåíåííîìó õàðàêòåðó åãî ïðîòåêàíèÿ, îäíàêî, ïðèâåäåííûå ïðèìåðû î ñâÿçè íåêîòîðûõ ìóòàöèé ñî ñìåðòíîñòüþ ïðè ñåïñèñå è ñ ðàçâèòèåì àòîïèè óáåæäàþò â ñåðüåçíîñòè äàííîãî ïîäõîäà. Îñîáåííî ýòî ìîæåò áûòü çíà÷èìî ïðè ñîâìåñòíîì íîñèòåëüñòâå ñî÷åòàíèé îïðåäåëåííûõ SNP, ñóùåñòâåííî óãëóáëÿþùèõ íàðóøåíèÿ ðåàêöèé èììóíèòåòà.

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Hamann L., Kumpf O., Muller M. et al. A coding mutation within the first exon

 íàñòîÿùåå âðåìÿ èçó÷åíèå ïîëèìîðôèçìà ãåíîâ ðåãóëÿòîðíûõ ìîëåêóë âîñïàëåíèÿ ïðèîáðåòàåò îñîáóþ àêòóàëüíîñòü. Çíàíèå èõ ðîëè â ïàòîãåíåçå ìíîãèõ çàáîëåâàíèé, íàðÿäó ñ äîñòèæåíèÿìè ñîâðåìåííîé ãåíîìèêè ïîçâîëÿåò, ñ îäíîé ñòîðîíû, ïðîãíîçèðîâàòü ðèñê ðàçâèòèÿ ïàòîëîãèè èëè òÿæåñòü åå ïðîòåêàíèÿ, ñ äðóãîé ñòîðîíû, ïîäîáðàòü ñïåöèôè÷åñêóþ òåðàïèþ, âêëþ÷àÿ ñðåäñòâà èììóíîêîððåêöèè, äëÿ êîíêðåòíîãî ïàöèåíòà.  áóäóùåì èçó÷åíèå ïîëèìîðôèçìà ãåíîâ èììóííîãî îòâåòà ìîæåò ïðèâåñòè ê ôîðìèðîâàíèþ ïåðñîíàëüíûõ ãåíåòè÷åñêèõ êàðò, ïîçâîëÿþùèõ çàðàíåå ïðåäñêàçûâàòü èíäèâèäóàëüíûå îñîáåííîñòè èììóííîãî îòâåòà äëÿ ðåàëèçàöèè ïðîôèëàêòè÷åñêèõ ïîäõîäîâ ê ðàçâèòèþ èììóíîïàòîëîãèè. Ïðè ýòîì òàêîé àíàëèç âîçìîæåí â ñàìîì ðàííåì âîçðàñòå, ÷òî ìîæåò îòêðûòü íåîãðàíè÷åííûå âîçìîæíîñòè íàïðàâëåííîé ïðîôèëàêòèêè è èììóíîêîððåêöèè â òå÷åíèå âñåé æèçíè. Ïîýòîìó èññëåäîâàíèÿ â äàííîé îáëàñòè íàáèðàþò ñèëó. Îäíàêî, ïî âñåé âèäèìîñòè, â íàñòîÿùåå âðåìÿ ñäåëàíû òîëüêî ïåðâûå øàãè â ýòîì íàïðàâëåíèè. Òàê êàê äëÿ ðåøåíèÿ çàäà÷è, ó÷èòûâàÿ áîëüøîå ÷èñëî SNP è èõ èíäèâèäóàëüíûõ ñî÷åòàíèé, òðåáóåòñÿ ïðîâåñòè îãðîìíûå ïîïóëÿöèîííûå è ìåäèêî-ãåíåòè÷åñêèå èññëåäîâàíèÿ.

PATyPA

of the human MD-2 gene results in decreased lipopolysaccharide-induced signaling // Genes Immun. — 2004. — Vol. 5. — P. 283-288.

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