FADS1 c.1337C>T ;(p.P446L)

Variant ID: 11-61570390-G-A

NM_013402.4(FADS1):c.1337C>T;(p.P446L)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K
Publication Date: 2020-12-01

Variant appearance in text: FADS1: P446L
PubMed Link: 32115487
Variant Present in the following documents:
  • Main text
  • jat-27-1264.pdf
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Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study.

Diabetes
Loomis, Stephanie J SJ; Li, Man M; Maruthur, Nisa M NM; Baldridge, Abigail S AS; North, Kari E KE; Mei, Hao H; Morrison, Alanna A; Carson, April P AP; Pankow, James S JS; Boerwinkle, Eric E; Scharpf, Robert R; Rasmussen-Torvik, Laura J LJ; Coresh, Josef J; Duggal, Priya P; Köttgen, Anna A; Selvin, Elizabeth E
Publication Date: 2018-08

Variant appearance in text: FADS1: P446L
PubMed Link: 29844224
Variant Present in the following documents:
  • db171362.pdf
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Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations.

Journal Of Lipid Research
Hu, Yao Y; Tanaka, Toshiko T; Zhu, Jingwen J; Guan, Weihua W; Wu, Jason H Y JHY; Psaty, Bruce M BM; McKnight, Barbara B; King, Irena B IB; Sun, Qi Q; Richard, Melissa M; Manichaikul, Ani A; Frazier-Wood, Alexis C AC; Kabagambe, Edmond K EK; Hopkins, Paul N PN; Ordovas, Jose M JM; Ferrucci, Luigi L; Bandinelli, Stefania S; Arnett, Donna K DK; Chen, Yii-Der I YI; Liang, Shuang S; Siscovick, David S DS; Tsai, Michael Y MY; Rich, Stephen S SS; Fornage, Myriam M; Hu, Frank B FB; Rimm, Eric B EB; Jensen, Majken K MK; Lemaitre, Rozenn N RN; Mozaffarian, Dariush D; Steffen, Lyn M LM; Morris, Andrew P AP; Li, Huaixing H; Lin, Xu X
Publication Date: 2017-05

Variant appearance in text: FADS1: P446L
PubMed Link: 28298293
Variant Present in the following documents:
  • Main text
  • jlrP071860.pdf
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Evaluating the transferability of 15 European-derived fasting plasma glucose SNPs in Mexican children and adolescents.

Scientific Reports
Langlois, Christine C; Abadi, Arkan A; Peralta-Romero, Jesus J; Alyass, Akram A; Suarez, Fernando F; Gomez-Zamudio, Jaime J; Burguete-Garcia, Ana I AI; Yazdi, Fereshteh T FT; Cruz, Miguel M; Meyre, David D
Publication Date: 2016-10-26

Variant appearance in text: FADS1: P446L
PubMed Link: 27782183
Variant Present in the following documents:
  • srep36202.pdf
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The n-3 long-chain PUFAs modulate the impact of the GCKR Pro446Leu polymorphism on triglycerides in adolescents.

Journal Of Lipid Research
Rousseaux, Julien J; Duhamel, Alain A; Dumont, Julie J; Dallongeville, Jean J; Molnar, Denes D; Widhalm, Kurt K; Manios, Yannis Y; Sjöström, Michael M; Kafatos, Anthony A; Breidenassel, Christina C; Gonzales-Gross, Marcela M; Cuenca-Garcia, Magdalena M; Censi, Laura L; Ascensión, Marcos M; De Henauw, Stefaan S; Moreno, Luis A LA; Meirhaeghe, Aline A; Gottrand, Frédéric F
Publication Date: 2015-09

Variant appearance in text: FADS1: Pro446Leu
PubMed Link: 26136510
Variant Present in the following documents:
  • Main text
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Do genetic modifiers of high-density lipoprotein cholesterol and triglyceride levels also modify their response to a lifestyle intervention in the setting of obesity and type-2 diabetes mellitus?: The Action for Health in Diabetes (Look AHEAD) study.

Circulation. Cardiovascular Genetics
Huggins, Gordon S GS; Papandonatos, George D GD; Erar, Bahar B; Belalcazar, L Maria LM; Brautbar, Ariel A; Ballantyne, Christie C; Kitabchi, Abbas E AE; Wagenknecht, Lynne E LE; Knowler, William C WC; Pownall, Henry J HJ; Wing, Rena R RR; Peter, Inga I; McCaffery, Jeanne M JM; ,
Publication Date: 2013-08

Variant appearance in text: FADS1: P446L
PubMed Link: 23861364
Variant Present in the following documents:
  • Main text
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Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma.

Genome Medicine
Raffler, Johannes J; Römisch-Margl, Werner W; Petersen, Ann-Kristin AK; Pagel, Philipp P; Blöchl, Florian F; Hengstenberg, Christian C; Illig, Thomas T; Meisinger, Christa C; Stark, Klaus K; Wichmann, H-Erich HE; Adamski, Jerzy J; Gieger, Christian C; Kastenmüller, Gabi G; Suhre, Karsten K
Publication Date: 2013

Variant appearance in text: FADS1: P446L
PubMed Link: 23414815
Variant Present in the following documents:
  • gm417.pdf
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Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

Circulation. Cardiovascular Genetics
Wu, Jason H Y JH; Lemaitre, Rozenn N RN; Manichaikul, Ani A; Guan, Weihua W; Tanaka, Toshiko T; Foy, Millennia M; Kabagambe, Edmond K EK; Djousse, Luc L; Siscovick, David D; Fretts, Amanda M AM; Johnson, Catherine C; King, Irena B IB; Psaty, Bruce M BM; McKnight, Barbara B; Rich, Stephen S SS; Chen, Yii-Der I YD; Nettleton, Jennifer A JA; Tang, Weihong W; Bandinelli, Stefania S; Jacobs, David R DR; Browning, Brian L BL; Laurie, Cathy C CC; Gu, Xiangjun X; Tsai, Michael Y MY; Steffen, Lyn M LM; Ferrucci, Luigi L; Fornage, Myriam M; Mozaffarian, Dariush D
Publication Date: 2013-04

Variant appearance in text: FADS1: P446L
PubMed Link: 23362303
Variant Present in the following documents:
  • Main text
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Genetic determinants of plasma triglycerides.

Journal Of Lipid Research
Johansen, Christopher T CT; Kathiresan, Sekar S; Hegele, Robert A RA
Publication Date: 2011-02

Variant appearance in text: FADS1: P446L
PubMed Link: 21041806
Variant Present in the following documents:
  • Main text
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Physiologic characterization of type 2 diabetes-related loci.

Current Diabetes Reports
Grarup, Niels N; Sparsø, Thomas T; Hansen, Torben T
Publication Date: 2010-12

Variant appearance in text: FADS1: P446L
PubMed Link: 20886378
Variant Present in the following documents:
  • Main text
  • 11892_2010_Article_154.pdf
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Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.

Diabetes Care
Nettleton, Jennifer A JA; McKeown, Nicola M NM; Kanoni, Stavroula S; Lemaitre, Rozenn N RN; Hivert, Marie-France MF; Ngwa, Julius J; van Rooij, Frank J A FJ; Sonestedt, Emily E; Wojczynski, Mary K MK; Ye, Zheng Z; Tanaka, Tosh T; Garcia, Melissa M; Anderson, Jennifer S JS; Follis, Jack L JL; Djousse, Luc L; Mukamal, Kenneth K; Papoutsakis, Constantina C; Mozaffarian, Dariush D; Zillikens, M Carola MC; Bandinelli, Stefania S; Bennett, Amanda J AJ; Borecki, Ingrid B IB; Feitosa, Mary F MF; Ferrucci, Luigi L; Forouhi, Nita G NG; Groves, Christopher J CJ; Hallmans, Goran G; Harris, Tamara T; Hofman, Albert A; Houston, Denise K DK; Hu, Frank B FB; Johansson, Ingegerd I; Kritchevsky, Stephen B SB; Langenberg, Claudia C; Launer, Lenore L; Liu, Yongmei Y; Loos, Ruth J RJ; Nalls, Michael M; Orho-Melander, Marju M; Renstrom, Frida F; Rice, Kenneth K; Riserus, Ulf U; Rolandsson, Olov O; Rotter, Jerome I JI; Saylor, Georgia G; Sijbrands, Eric J G EJ; Sjogren, Per P; Smith, Albert A; Steingrímsdóttir, Laufey L; Uitterlinden, André G AG; Wareham, Nicholas J NJ; Prokopenko, Inga I; Pankow, James S JS; van Duijn, Cornelia M CM; Florez, Jose C JC; Witteman, Jacqueline C M JC; , ; Dupuis, Josée J; Dedoussis, George V GV; Ordovas, Jose M JM; Ingelsson, Erik E; Cupples, L Adrienne L; Siscovick, David S DS; Franks, Paul W PW; Meigs, James B JB
Publication Date: 2010-12

Variant appearance in text: FADS1: Pro446Leu
PubMed Link: 20693352
Variant Present in the following documents:
  • Main text
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Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.

Diabetes
Ingelsson, Erik E; Langenberg, Claudia C; Hivert, Marie-France MF; Prokopenko, Inga I; Lyssenko, Valeriya V; Dupuis, Josée J; Mägi, Reedik R; Sharp, Stephen S; Jackson, Anne U AU; Assimes, Themistocles L TL; Shrader, Peter P; Knowles, Joshua W JW; Zethelius, Björn B; Abbasi, Fahim A FA; Bergman, Richard N RN; Bergmann, Antje A; Berne, Christian C; Boehnke, Michael M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Buchanan, Thomas A TA; Bumpstead, Suzannah J SJ; Böttcher, Yvonne Y; Chines, Peter P; Collins, Francis S FS; Cooper, Cyrus C CC; Dennison, Elaine M EM; Erdos, Michael R MR; Ferrannini, Ele E; Fox, Caroline S CS; Graessler, Jürgen J; Hao, Ke K; Isomaa, Bo B; Jameson, Karen A KA; Kovacs, Peter P; Kuusisto, Johanna J; Laakso, Markku M; Ladenvall, Claes C; Mohlke, Karen L KL; Morken, Mario A MA; Narisu, Narisu N; Nathan, David M DM; Pascoe, Laura L; Payne, Felicity F; Petrie, John R JR; Sayer, Avan A AA; Schwarz, Peter E H PE; Scott, Laura J LJ; Stringham, Heather M HM; Stumvoll, Michael M; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tönjes, Anke A; Valle, Timo T TT; Williams, Gordon H GH; Lind, Lars L; Barroso, Inês I; Quertermous, Thomas T; Walker, Mark M; Wareham, Nicholas J NJ; Meigs, James B JB; McCarthy, Mark I MI; Groop, Leif L; Watanabe, Richard M RM; Florez, Jose C JC; ,
Publication Date: 2010-05

Variant appearance in text: FADS1: P446L
PubMed Link: 20185807
Variant Present in the following documents:
  • Main text
  • zdb1266.pdf
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Nature Genetics
Dupuis, Josée J; Langenberg, Claudia C; Prokopenko, Inga I; Saxena, Richa R; Soranzo, Nicole N; Jackson, Anne U AU; Wheeler, Eleanor E; Glazer, Nicole L NL; Bouatia-Naji, Nabila N; Gloyn, Anna L AL; Lindgren, Cecilia M CM; Mägi, Reedik R; Morris, Andrew P AP; Randall, Joshua J; Johnson, Toby T; Elliott, Paul P; Rybin, Denis D; Thorleifsson, Gudmar G; Steinthorsdottir, Valgerdur V; Henneman, Peter P; Grallert, Harald H; Dehghan, Abbas A; Hottenga, Jouke Jan JJ; Franklin, Christopher S CS; Navarro, Pau P; Song, Kijoung K; Goel, Anuj A; Perry, John R B JR; Egan, Josephine M JM; Lajunen, Taina T; Grarup, Niels N; Sparsø, Thomas T; Doney, Alex A; Voight, Benjamin F BF; Stringham, Heather M HM; Li, Man M; Kanoni, Stavroula S; Shrader, Peter P; Cavalcanti-Proença, Christine C; Kumari, Meena M; Qi, Lu L; Timpson, Nicholas J NJ; Gieger, Christian C; Zabena, Carina C; Rocheleau, Ghislain G; Ingelsson, Erik E; An, Ping P; O'Connell, Jeffrey J; Luan, Jian'an J; Elliott, Amanda A; McCarroll, Steven A SA; Payne, Felicity F; Roccasecca, Rosa Maria RM; Pattou, François F; Sethupathy, Praveen P; Ardlie, Kristin K; Ariyurek, Yavuz Y; Balkau, Beverley B; Barter, Philip P; Beilby, John P JP; Ben-Shlomo, Yoav Y; Benediktsson, Rafn R; Bennett, Amanda J AJ; Bergmann, Sven S; Bochud, Murielle M; Boerwinkle, Eric E; Bonnefond, Amélie A; Bonnycastle, Lori L LL; Borch-Johnsen, Knut K; Böttcher, Yvonne Y; Brunner, Eric E; Bumpstead, Suzannah J SJ; Charpentier, Guillaume G; Chen, Yii-Der Ida YD; Chines, Peter P; Clarke, Robert R; Coin, Lachlan J M LJ; Cooper, Matthew N MN; Cornelis, Marilyn M; Crawford, Gabe G; Crisponi, Laura L; Day, Ian N M IN; de Geus, Eco J C EJ; Delplanque, Jerome J; Dina, Christian C; Erdos, Michael R MR; Fedson, Annette C AC; Fischer-Rosinsky, Antje A; Forouhi, Nita G NG; Fox, Caroline S CS; Frants, Rune R; Franzosi, Maria Grazia MG; Galan, Pilar P; Goodarzi, Mark O MO; Graessler, Jürgen J; Groves, Christopher J CJ; Grundy, Scott S; Gwilliam, Rhian R; Gyllensten, Ulf U; Hadjadj, Samy S; Hallmans, Göran G; Hammond, Naomi N; Han, Xijing X; Hartikainen, Anna-Liisa AL; Hassanali, Neelam N; Hayward, Caroline C; Heath, Simon C SC; Hercberg, Serge S; Herder, Christian C; Hicks, Andrew A AA; Hillman, David R DR; Hingorani, Aroon D AD; Hofman, Albert A; Hui, Jennie J; Hung, Joe J; Isomaa, Bo B; Johnson, Paul R V PR; Jørgensen, Torben T; Jula, Antti A; Kaakinen, Marika M; Kaprio, Jaakko J; Kesaniemi, Y Antero YA; Kivimaki, Mika M; Knight, Beatrice B; Koskinen, Seppo S; Kovacs, Peter P; Kyvik, Kirsten Ohm KO; Lathrop, G Mark GM; Lawlor, Debbie A DA; Le Bacquer, Olivier O; Lecoeur, Cécile C; Li, Yun Y; Lyssenko, Valeriya V; Mahley, Robert R; Mangino, Massimo M; Manning, Alisa K AK; Martínez-Larrad, María Teresa MT; McAteer, Jarred B JB; McCulloch, Laura J LJ; McPherson, Ruth R; Meisinger, Christa C; Melzer, David D; Meyre, David D; Mitchell, Braxton D BD; Morken, Mario A MA; Mukherjee, Sutapa S; Naitza, Silvia S; Narisu, Narisu N; Neville, Matthew J MJ; Oostra, Ben A BA; Orrù, Marco M; Pakyz, Ruth R; Palmer, Colin N A CN; Paolisso, Giuseppe G; Pattaro, Cristian C; Pearson, Daniel D; Peden, John F JF; Pedersen, Nancy L NL; Perola, Markus M; Pfeiffer, Andreas F H AF; Pichler, Irene I; Polasek, Ozren O; Posthuma, Danielle D; Potter, Simon C SC; Pouta, Anneli A; Province, Michael A MA; Psaty, Bruce M BM; Rathmann, Wolfgang W; Rayner, Nigel W NW; Rice, Kenneth K; Ripatti, Samuli S; Rivadeneira, Fernando F; Roden, Michael M; Rolandsson, Olov O; Sandbaek, Annelli A; Sandhu, Manjinder M; Sanna, Serena S; Sayer, Avan Aihie AA; Scheet, Paul P; Scott, Laura J LJ; Seedorf, Udo U; Sharp, Stephen J SJ; Shields, Beverley B; Sigurethsson, Gunnar G; Sijbrands, Eric J G EJ; Silveira, Angela A; Simpson, Laila L; Singleton, Andrew A; Smith, Nicholas L NL; Sovio, Ulla U; Swift, Amy A; Syddall, Holly H; Syvänen, Ann-Christine AC; Tanaka, Toshiko T; Thorand, Barbara B; Tichet, Jean J; Tönjes, Anke A; Tuomi, Tiinamaija T; Uitterlinden, André G AG; van Dijk, Ko Willems KW; van Hoek, Mandy M; Varma, Dhiraj D; Visvikis-Siest, Sophie S; Vitart, Veronique V; Vogelzangs, Nicole N; Waeber, Gérard G; Wagner, Peter J PJ; Walley, Andrew A; Walters, G Bragi GB; Ward, Kim L KL; Watkins, Hugh H; Weedon, Michael N MN; Wild, Sarah H SH; Willemsen, Gonneke G; Witteman, Jaqueline C M JC; Yarnell, John W G JW; Zeggini, Eleftheria E; Zelenika, Diana D; Zethelius, Björn B; Zhai, Guangju G; Zhao, Jing Hua JH; Zillikens, M Carola MC; , ; , ; , ; Borecki, Ingrid B IB; Loos, Ruth J F RJ; Meneton, Pierre P; Magnusson, Patrik K E PK; Nathan, David M DM; Williams, Gordon H GH; Hattersley, Andrew T AT; Silander, Kaisa K; Salomaa, Veikko V; Smith, George Davey GD; Bornstein, Stefan R SR; Schwarz, Peter P; Spranger, Joachim J; Karpe, Fredrik F; Shuldiner, Alan R AR; Cooper, Cyrus C; Dedoussis, George V GV; Serrano-Ríos, Manuel M; Morris, Andrew D AD; Lind, Lars L; Palmer, Lyle J LJ; Hu, Frank B FB; Franks, Paul W PW; Ebrahim, Shah S; Marmot, Michael M; Kao, W H Linda WH; Pankow, James S JS; Sampson, Michael J MJ; Kuusisto, Johanna J; Laakso, Markku M; Hansen, Torben T; Pedersen, Oluf O; Pramstaller, Peter Paul PP; Wichmann, H Erich HE; Illig, Thomas T; Rudan, Igor I; Wright, Alan F AF; Stumvoll, Michael M; Campbell, Harry H; Wilson, James F JF; , ; , ; Bergman, Richard N RN; Buchanan, Thomas A TA; Collins, Francis S FS; Mohlke, Karen L KL; Tuomilehto, Jaakko J; Valle, Timo T TT; Altshuler, David D; Rotter, Jerome I JI; Siscovick, David S DS; Penninx, Brenda W J H BW; Boomsma, Dorret I DI; Deloukas, Panos P; Spector, Timothy D TD; Frayling, Timothy M TM; Ferrucci, Luigi L; Kong, Augustine A; Thorsteinsdottir, Unnur U; Stefansson, Kari K; van Duijn, Cornelia M CM; Aulchenko, Yurii S YS; Cao, Antonio A; Scuteri, Angelo A; Schlessinger, David D; Uda, Manuela M; Ruokonen, Aimo A; Jarvelin, Marjo-Riitta MR; Waterworth, Dawn M DM; Vollenweider, Peter P; Peltonen, Leena L; Mooser, Vincent V; Abecasis, Goncalo R GR; Wareham, Nicholas J NJ; Sladek, Robert R; Froguel, Philippe P; Watanabe, Richard M RM; Meigs, James B JB; Groop, Leif L; Boehnke, Michael M; McCarthy, Mark I MI; Florez, Jose C JC; Barroso, Inês I
Publication Date: 2010-02

Variant appearance in text: FADS1: P446L
PubMed Link: 20081858
Variant Present in the following documents:
  • Main text
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A genome-wide perspective of genetic variation in human metabolism.

Nature Genetics
Illig, Thomas T; Gieger, Christian C; Zhai, Guangju G; Römisch-Margl, Werner W; Wang-Sattler, Rui R; Prehn, Cornelia C; Altmaier, Elisabeth E; Kastenmüller, Gabi G; Kato, Bernet S BS; Mewes, Hans-Werner HW; Meitinger, Thomas T; de Angelis, Martin Hrabé MH; Kronenberg, Florian F; Soranzo, Nicole N; Wichmann, H-Erich HE; Spector, Tim D TD; Adamski, Jerzy J; Suhre, Karsten K
Publication Date: 2010-02

Variant appearance in text: FADS1: P446L
PubMed Link: 20037589
Variant Present in the following documents:
  • Main text
View BVdb publication page