Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.

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Fältnamn	Indikatorer	Metadata
000		06763naa a2201513 4500
001		oai:lup.lub.lu.se:d54d1c01-1819-4796-b980-e2d848aed7ae
003		SwePub
008		160401s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/43351522 URI
024	7	a https://doi.org/10.1016/j.ajhg.2014.01.0102 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 Lange, Leslie A4 aut
245	1 0	a Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
264	1	b Elsevier BV,c 2014
520		a Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(nd) percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments.
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 Hu, Youna4 aut
700	1	a Zhang, He4 aut
700	1	a Xue, Chenyi4 aut
700	1	a Schmidt, Ellen M4 aut
700	1	a Tang, Zheng-Zheng4 aut
700	1	a Bizon, Chris4 aut
700	1	a Lange, Ethan M4 aut
700	1	a Smith, Joshua D4 aut
700	1	a Turner, Emily H4 aut
700	1	a Jun, Goo4 aut
700	1	a Kang, Hyun Min4 aut
700	1	a Peloso, Gina4 aut
700	1	a Auer, Paul4 aut
700	1	a Li, Kuo-Ping4 aut
700	1	a Flannick, Jason4 aut
700	1	a Zhang, Ji4 aut
700	1	a Fuchsberger, Christian4 aut
700	1	a Gaulton, Kyle4 aut
700	1	a Lindgren, Cecilia4 aut
700	1	a Locke, Adam4 aut
700	1	a Manning, Alisa4 aut
700	1	a Sim, Xueling4 aut
700	1	a Rivas, Manuel A4 aut
700	1	a Holmen, Oddgeir L4 aut
700	1	a Gottesman, Omri4 aut
700	1	a Lu, Yingchang4 aut
700	1	a Ruderfer, Douglas4 aut
700	1	a Stahl, Eli A4 aut
700	1	a Duan, Qing4 aut
700	1	a Li, Yun4 aut
700	1	a Durda, Peter4 aut
700	1	a Jiao, Shuo4 aut
700	1	a Isaacs, Aaron4 aut
700	1	a Hofman, Albert4 aut
700	1	a Bis, Joshua C4 aut
700	1	a Correa, Adolfo4 aut
700	1	a Griswold, Michael E4 aut
700	1	a Jakobsdottir, Johanna4 aut
700	1	a Smith, Albert V4 aut
700	1	a Schreiner, Pamela J4 aut
700	1	a Feitosa, Mary F4 aut
700	1	a Zhang, Qunyuan4 aut
700	1	a Huffman, Jennifer E4 aut
700	1	a Crosby, Jacy4 aut
700	1	a Wassel, Christina L4 aut
700	1	a Do, Ron4 aut
700	1	a Franceschini, Nora4 aut
700	1	a Martin, Lisa W4 aut
700	1	a Robinson, Jennifer G4 aut
700	1	a Assimes, Themistocles L4 aut
700	1	a Crosslin, David R4 aut
700	1	a Rosenthal, Elisabeth A4 aut
700	1	a Tsai, Michael4 aut
700	1	a Rieder, Mark J4 aut
700	1	a Farlow, Deborah N4 aut
700	1	a Folsom, Aaron R4 aut
700	1	a Lumley, Thomas4 aut
700	1	a Fox, Ervin R4 aut
700	1	a Carlson, Christopher S4 aut
700	1	a Peters, Ulrike4 aut
700	1	a Jackson, Rebecca D4 aut
700	1	a van Duijn, Cornelia M4 aut
700	1	a Uitterlinden, André G4 aut
700	1	a Levy, Daniel4 aut
700	1	a Rotter, Jerome I4 aut
700	1	a Taylor, Herman A4 aut
700	1	a Gudnason, Vilmundur4 aut
700	1	a Siscovick, David S4 aut
700	1	a Fornage, Myriam4 aut
700	1	a Borecki, Ingrid B4 aut
700	1	a Hayward, Caroline4 aut
700	1	a Rudan, Igor4 aut
700	1	a Chen, Y Eugene4 aut
700	1	a Bottinger, Erwin P4 aut
700	1	a Loos, Ruth J F4 aut
700	1	a Sætrom, Pål4 aut
700	1	a Hveem, Kristian4 aut
700	1	a Boehnke, Michael4 aut
700	1	a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr
700	1	a McCarthy, Mark4 aut
700	1	a Meitinger, Thomas4 aut
700	1	a Ballantyne, Christie M4 aut
700	1	a Gabriel, Stacey B4 aut
700	1	a O'Donnell, Christopher J4 aut
700	1	a Post, Wendy S4 aut
700	1	a North, Kari E4 aut
700	1	a Reiner, Alexander P4 aut
700	1	a Boerwinkle, Eric4 aut
700	1	a Psaty, Bruce M4 aut
700	1	a Altshuler, David4 aut
700	1	a Kathiresan, Sekar4 aut
700	1	a Lin, Dan-Yu4 aut
700	1	a Jarvik, Gail P4 aut
700	1	a Cupples, L Adrienne4 aut
700	1	a Kooperberg, Charles4 aut
700	1	a Wilson, James G4 aut
700	1	a Nickerson, Deborah A4 aut
700	1	a Abecasis, Goncalo R4 aut
700	1	a Rich, Stephen S4 aut
700	1	a Tracy, Russell P4 aut
700	1	a Willer, Cristen J4 aut
710	2	a Genomik, diabetes och endokrinologib Forskargrupper vid Lunds universitet4 org
773	0	t American Journal of Human Geneticsd : Elsevier BVg 94:2, s. 233-245q 94:2<233-245x 0002-9297
856	4	u http://www.ncbi.nlm.nih.gov/pubmed/24507775?dopt=Abstracty FULLTEXT
856	4	u http://dx.doi.org/10.1016/j.ajhg.2014.01.010y FULLTEXT
856	4	u http://www.cell.com/article/S0002929714000111/pdf
856	4 8	u https://lup.lub.lu.se/record/4335152
856	4 8	u https://doi.org/10.1016/j.ajhg.2014.01.010

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Av författaren/redakt...: Lange, Leslie A; Hu, Youna; Zhang, He; Xue, Chenyi; Schmidt, Ellen M; Tang, Zheng-Zhen ...; visa fler...; Bizon, Chris; Lange, Ethan M; Smith, Joshua D; Turner, Emily H; Jun, Goo; Kang, Hyun Min; Peloso, Gina; Auer, Paul; Li, Kuo-Ping; Flannick, Jason; Zhang, Ji; Fuchsberger, Chr ...; Gaulton, Kyle; Lindgren, Cecili ...; Locke, Adam; Manning, Alisa; Sim, Xueling; Rivas, Manuel A; Holmen, Oddgeir ...; Gottesman, Omri; Lu, Yingchang; Ruderfer, Dougla ...; Stahl, Eli A; Duan, Qing; Li, Yun; Durda, Peter; Jiao, Shuo; Isaacs, Aaron; Hofman, Albert; Bis, Joshua C; Correa, Adolfo; Griswold, Michae ...; Jakobsdottir, Jo ...; Smith, Albert V; Schreiner, Pamel ...; Feitosa, Mary F; Zhang, Qunyuan; Huffman, Jennife ...; Crosby, Jacy; Wassel, Christin ...; Do, Ron; Franceschini, No ...; Martin, Lisa W; Robinson, Jennif ...; Assimes, Themist ...; Crosslin, David ...; Rosenthal, Elisa ...; Tsai, Michael; Rieder, Mark J; Farlow, Deborah ...; Folsom, Aaron R; Lumley, Thomas; Fox, Ervin R; Carlson, Christo ...; Peters, Ulrike; Jackson, Rebecca ...; van Duijn, Corne ...; Uitterlinden, An ...; Levy, Daniel; Rotter, Jerome I; Taylor, Herman A; Gudnason, Vilmun ...; Siscovick, David ...; Fornage, Myriam; Borecki, Ingrid ...; Hayward, Carolin ...; Rudan, Igor; Chen, Y Eugene; Bottinger, Erwin ...; Loos, Ruth J F; Sætrom, Pål; Hveem, Kristian; Boehnke, Michael; Groop, Leif; McCarthy, Mark; Meitinger, Thoma ...; Ballantyne, Chri ...; Gabriel, Stacey ...; O'Donnell, Chris ...; Post, Wendy S; North, Kari E; Reiner, Alexande ...; Boerwinkle, Eric; Psaty, Bruce M; Altshuler, David; Kathiresan, Seka ...; Lin, Dan-Yu; Jarvik, Gail P; Cupples, L Adrie ...; Kooperberg, Char ...; Wilson, James G; Nickerson, Debor ...; Abecasis, Goncal ...; Rich, Stephen S; Tracy, Russell P; Willer, Cristen ...; visa färre...

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