Lipoprotein lipase gene sequencing and plasma lipid profile

A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia

“…The encoded LAMC1 protein is thought to mediate the attachment, migration and organization of cells into tissue during embryonic development as a result of its interaction with other cellular matrix components. Similarly, the TRIB1 which harbors the rs6982502 is involved in the regulation of hepatic lipogenesis, and has also been associated with plasma TG levels, ischemic heart disease (IHD) and familial hypercholesterolemia (59)(60)(61)(62). Currently, there is no data in the literature pertaining to the role of either this SNP or the encoding LAMC1 gene in cardiovascular disease.…”

Оценка Эффективности Гиполипидемической Терапии Розувастатином У Больных Ишемической Болезнью Сердца В Зависимости От Генотипов Липопротеинлипазы

“… èíäóñòðèàëüíûõ ñòðàíàõ èøåìè÷åñêàÿ áîëåçíü ñåðäöà (ÈÁÑ) -ñàìàÿ ÷àñòàÿ ïðè÷èíà ëåòàëüíîñòè è ïîòåðè òðóäîñïîñîáíîñòè ïî áîëåçíè [2,5]. Îñíîâíîé ïðè÷èíîé ÈÁÑ ÿâëÿåòñÿ àòåðîñêëåðîç êîðîíàðíûõ àð-òåðèé, âîçíèêàþùèé â ðåçóëüòàòå íàðóøåíèÿ îáìåíà ëèïèäîâ.…”

“…Ãåíû, âîâëå÷åííûå â ðåãóëÿöèþ ëèïèäíîãî îáìåíà (ËÎ), ðàññìàòðèâàþòñÿ êàê çíà÷èìûå ãåíåòè-÷åñêèå ôàêòîðû ðèñêà ÈÁÑ [7,11]. Ñðåäè âîçìîaeíûõ ãåíîâ-êàíäèäàòîâ ïîäâåðaeåííîñòè ÈÁÑ âûäåëÿþò ãåí ëèïîïðîòåèíëèïàçû (LPL ) -ôåðìåíò, îáåñïå÷èâàþ-ùèé ãèäðîëèç òðèãëèöåðèäîâ (ÒÃ) è ïðåâðàùåíèå õî-ëåñòåðèíà ëèïîïðîòåèäîâ î÷åíü íèçêîé ïëîòíîñòè (ÕÑ ËÎÍÏ) â õîëåñòåðèí ëèïîïðîòåèäîâ íèçêîé ïëîò-íîñòè (ÕÑ ËÍÏ) [4,5]. Ïîëèìîðôèçìû ãåíà LPL îïðå-äåëÿþò ôóíêöèîíàëüíóþ àêòèâíîñòü ôåðìåíòà è, òà-êèì îáðàçîì, ìîãóò âíîñèòü âêëàä â ïðåäðàñïîëîaeåí-íîñòü íîñèòåëåé ê ãèïåðëèïèäåìèè (ÃËÏ).…”

“…Òåì íå ìåíåå âëèÿíèå ýòîãî âçàèìîäåéñòâèÿ îêàçàëîñü ñëàáûì â ñðàâíåíèè ñ ýôôåêòîì "íåãåíåòè÷åñêèõ" ôàêòîðîâ (ïîë, íàëè÷èå ñàõàðíîãî äèàáåòà â àíàìíåçå). Âî-âòîðûõ, èçó÷àëèñü ñòàòèíû ïåðâûõ ïîêîëåíèé, òàêèå êàê ñèìâàñòàòèí, ïðàâàñòàòèí, àòîðâàñòàòèí [5,7]. Öåëüþ íàñòîÿùåãî èññëåäîâàíèÿ áûëî èçó÷åíèå âëèÿíèÿ ïîëèìîðôèçìà ãåíà LPL íà ýôôåêòèâíîñòü ãèïîëèïèäåìè÷åñêîé òåðà- …”

3018 Functional intronic ERCC1 polymorphism from RegulomeDB can predict survival in lung cancer after surgery

“…RegulomeDB is a database which integrates a large collection of regulatory information from ENCODE and other data sources [17], being a rich source of information that may provide putative mechanistic explanations for genetic association studies including GWAS [18]. Until recently, a few studies utilized RegulomeDB to predict regulatory function of SNPs in non-coding regions that were identified by GWAS or candidate gene study [19][20][21][22].…”