Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

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LIBRIS Formathandbok (Information om MARC21)

Fältnamn	Indikatorer	Metadata
000		06998naa a2201477 4500
001		oai:lup.lub.lu.se:5867df04-a8e1-436a-ac9a-3428a708efe4
003		SwePub
008		160401s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/43352572 URI
024	7	a https://doi.org/10.1016/j.ajhg.2014.01.0092 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Peloso, Gina M4 aut
245	1 0	a Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
264	1	b Elsevier BV,c 2014
520		a Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development of a new class of therapeutics. It is uncertain whether the PCSK9 example represents a paradigm or an isolated exception. We used the "Exome Array" to genotype >200,000 low-frequency and rare coding sequence variants across the genome in 56,538 individuals (42,208 European ancestry [EA] and 14,330 African ancestry [AA]) and tested these variants for association with LDL-C, high-density lipoprotein cholesterol (HDL-C), and triglycerides. Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361C>T; p.Gln121(∗)], PAFAH1B2 rs186808413 [c.482C>T; p.Ser161Leu], COL18A1 rs114139997 [c.331G>A; p.Gly111Arg], and PCSK7 rs142953140 [c.1511G>A; p.Arg504His]) with large effects on HDL-C and/or triglycerides. None of these four variants was associated with risk for CHD, suggesting that examples of low-frequency coding variants with robust effects on both lipids and CHD will be limited.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Auer, Paul L4 aut
700	1	a Bis, Joshua C4 aut
700	1	a Voorman, Arend4 aut
700	1	a Morrison, Alanna C4 aut
700	1	a Stitziel, Nathan O4 aut
700	1	a Brody, Jennifer A4 aut
700	1	a Khetarpal, Sumeet A4 aut
700	1	a Crosby, Jacy R4 aut
700	1	a Fornage, Myriam4 aut
700	1	a Isaacs, Aaron4 aut
700	1	a Jakobsdottir, Johanna4 aut
700	1	a Feitosa, Mary F4 aut
700	1	a Davies, Gail4 aut
700	1	a Huffman, Jennifer E4 aut
700	1	a Manichaikul, Ani4 aut
700	1	a Davis, Brian4 aut
700	1	a Lohman, Kurt4 aut
700	1	a Joon, Aron Y4 aut
700	1	a Smith, Albert V4 aut
700	1	a Grove, Megan L4 aut
700	1	a Zanoni, Paolo4 aut
700	1	a Redon, Valeska4 aut
700	1	a Demissie, Serkalem4 aut
700	1	a Lawson, Kim4 aut
700	1	a Peters, Ulrike4 aut
700	1	a Carlson, Christopher4 aut
700	1	a Jackson, Rebecca D4 aut
700	1	a Ryckman, Kelli K4 aut
700	1	a Mackey, Rachel H4 aut
700	1	a Robinson, Jennifer G4 aut
700	1	a Siscovick, David S4 aut
700	1	a Schreiner, Pamela J4 aut
700	1	a Mychaleckyj, Josyf C4 aut
700	1	a Pankow, James S4 aut
700	1	a Hofman, Albert4 aut
700	1	a Uitterlinden, Andre G4 aut
700	1	a Harris, Tamara B4 aut
700	1	a Taylor, Kent D4 aut
700	1	a Stafford, Jeanette M4 aut
700	1	a Reynolds, Lindsay M4 aut
700	1	a Marioni, Riccardo E4 aut
700	1	a Dehghan, Abbas4 aut
700	1	a Franco, Oscar H4 aut
700	1	a Patel, Aniruddh P4 aut
700	1	a Lu, Yingchang4 aut
700	1	a Hindy, Georgeu Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups4 aut0 (Swepub:lu)med-ghu
700	1	a Gottesman, Omri4 aut
700	1	a Bottinger, Erwin P4 aut
700	1	a Melander, Olleu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome
700	1	a Orho-Melander, Marjuu Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups4 aut0 (Swepub:lu)endo-mor
700	1	a Loos, Ruth J F4 aut
700	1	a Duga, Stefano4 aut
700	1	a Merlini, Piera Angelica4 aut
700	1	a Farrall, Martin4 aut
700	1	a Goel, Anuj4 aut
700	1	a Asselta, Rosanna4 aut
700	1	a Girelli, Domenico4 aut
700	1	a Martinelli, Nicola4 aut
700	1	a Shah, Svati H4 aut
700	1	a Kraus, William E4 aut
700	1	a Li, Mingyao4 aut
700	1	a Rader, Daniel J4 aut
700	1	a Reilly, Muredach P4 aut
700	1	a McPherson, Ruth4 aut
700	1	a Watkins, Hugh4 aut
700	1	a Ardissino, Diego4 aut
700	1	a Zhang, Qunyuan4 aut
700	1	a Wang, Judy4 aut
700	1	a Tsai, Michael Y4 aut
700	1	a Taylor, Herman A4 aut
700	1	a Correa, Adolfo4 aut
700	1	a Griswold, Michael E4 aut
700	1	a Lange, Leslie A4 aut
700	1	a Starr, John M4 aut
700	1	a Rudan, Igor4 aut
700	1	a Eiriksdottir, Gudny4 aut
700	1	a Launer, Lenore J4 aut
700	1	a Ordovas, Jose M4 aut
700	1	a Levy, Daniel4 aut
700	1	a Chen, Y-D Ida4 aut
700	1	a Reiner, Alexander P4 aut
700	1	a Hayward, Caroline4 aut
700	1	a Polasek, Ozren4 aut
700	1	a Deary, Ian J4 aut
700	1	a Borecki, Ingrid B4 aut
700	1	a Liu, Yongmei4 aut
700	1	a Gudnason, Vilmundur4 aut
700	1	a Wilson, James G4 aut
700	1	a van Duijn, Cornelia M4 aut
700	1	a Kooperberg, Charles4 aut
700	1	a Rich, Stephen S4 aut
700	1	a Psaty, Bruce M4 aut
700	1	a Rotter, Jerome I4 aut
700	1	a O'Donnell, Christopher J4 aut
700	1	a Rice, Kenneth4 aut
700	1	a Boerwinkle, Eric4 aut
700	1	a Kathiresan, Sekar4 aut
700	1	a Cupples, L Adrienne4 aut
710	2	a Diabetes - kardiovaskulär sjukdomb Forskargrupper vid Lunds universitet4 org
773	0	t American Journal of Human Geneticsd : Elsevier BVg 94:2, s. 223-232q 94:2<223-232x 0002-9297
856	4	u http://www.ncbi.nlm.nih.gov/pubmed/24507774?dopt=Abstracty FULLTEXT
856	4	u http://dx.doi.org/10.1016/j.ajhg.2014.01.009y FULLTEXT
856	4	u http://www.cell.com/article/S000292971400010X/pdf
856	4 8	u https://lup.lub.lu.se/record/4335257
856	4 8	u https://doi.org/10.1016/j.ajhg.2014.01.009

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Av författaren/redakt...: Peloso, Gina M; Auer, Paul L; Bis, Joshua C; Voorman, Arend; Morrison, Alanna ...; Stitziel, Nathan ...; visa fler...; Brody, Jennifer ...; Khetarpal, Sumee ...; Crosby, Jacy R; Fornage, Myriam; Isaacs, Aaron; Jakobsdottir, Jo ...; Feitosa, Mary F; Davies, Gail; Huffman, Jennife ...; Manichaikul, Ani; Davis, Brian; Lohman, Kurt; Joon, Aron Y; Smith, Albert V; Grove, Megan L; Zanoni, Paolo; Redon, Valeska; Demissie, Serkal ...; Lawson, Kim; Peters, Ulrike; Carlson, Christo ...; Jackson, Rebecca ...; Ryckman, Kelli K; Mackey, Rachel H; Robinson, Jennif ...; Siscovick, David ...; Schreiner, Pamel ...; Mychaleckyj, Jos ...; Pankow, James S; Hofman, Albert; Uitterlinden, An ...; Harris, Tamara B; Taylor, Kent D; Stafford, Jeanet ...; Reynolds, Lindsa ...; Marioni, Riccard ...; Dehghan, Abbas; Franco, Oscar H; Patel, Aniruddh ...; Lu, Yingchang; Hindy, George; Gottesman, Omri; Bottinger, Erwin ...; Melander, Olle; Orho-Melander, M ...; Loos, Ruth J F; Duga, Stefano; Merlini, Piera A ...; Farrall, Martin; Goel, Anuj; Asselta, Rosanna; Girelli, Domenic ...; Martinelli, Nico ...; Shah, Svati H; Kraus, William E; Li, Mingyao; Rader, Daniel J; Reilly, Muredach ...; McPherson, Ruth; Watkins, Hugh; Ardissino, Diego; Zhang, Qunyuan; Wang, Judy; Tsai, Michael Y; Taylor, Herman A; Correa, Adolfo; Griswold, Michae ...; Lange, Leslie A; Starr, John M; Rudan, Igor; Eiriksdottir, Gu ...; Launer, Lenore J; Ordovas, Jose M; Levy, Daniel; Chen, Y-D Ida; Reiner, Alexande ...; Hayward, Carolin ...; Polasek, Ozren; Deary, Ian J; Borecki, Ingrid ...; Liu, Yongmei; Gudnason, Vilmun ...; Wilson, James G; van Duijn, Corne ...; Kooperberg, Char ...; Rich, Stephen S; Psaty, Bruce M; Rotter, Jerome I; O'Donnell, Chris ...; Rice, Kenneth; Boerwinkle, Eric; Kathiresan, Seka ...; Cupples, L Adrie ...; visa färre...

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