Variant ID: 11-61570783-T-C

NM_013402.4(FADS1):c.1248+52A>G

This variant was identified in 233 publications




Publications:


The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration.

Frontiers In Aging Neuroscience
C Murphy, AP Johnson, RK Koenekoop, W Seiple, O Overbury
Publication Date: 2020

Variant appearance in text: rs174547
PubMed Link: 33178008
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study.

Plos One
J Zhou, K Passero, NE Palmiero, B Müller-Myhsok, ME Kleber, W Maerz, MA Hall
Publication Date: 2020

Variant appearance in text: rs174547
PubMed Link: 32915819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Desaturase Activity and the Risk of Type 2 Diabetes and Coronary Artery Disease: A Mendelian Randomization Study.

Nutrients
S Jäger, R Cuadrat, P Hoffmann, C Wittenbecher, MB Schulze
Publication Date: 2020-07-28

Variant appearance in text: rs174547
PubMed Link: 32731631
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Scoping Review of Interactions between Omega-3 Long-Chain Polyunsaturated Fatty Acids and Genetic Variation in Relation to Cancer Risk.

Nutrients
K Yurko-Mauro, M Van Elswyk, L Teo
Publication Date: 2020-06-02

Variant appearance in text: rs174547
PubMed Link: 32498320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Search for multiple myeloma risk factors using Mendelian randomization.

Blood Advances
M Went, AJ Cornish, PJ Law, B Kinnersley, M van Duin, N Weinhold, A Försti, M Hansson, P Sonneveld, H Goldschmidt, GJ Morgan, K Hemminki, B Nilsson, M Kaiser, RS Houlston
Publication Date: 2020-05-26

Variant appearance in text: rs174547
PubMed Link: 32433745
Variant Present in the following documents:
  • Main text
View BVdb publication page



FADS1 (Fatty Acid Desaturase 1) Genotype Associates With Aortic Valve FADS mRNA Expression, Fatty Acid Content and Calcification.

Circulation. Genomic And Precision Medicine
O Plunde, SC Larsson, G Artiach, G Thanassoulis, M Carracedo, A Franco-Cereceda, P Eriksson, M Bäck
Publication Date: 2020-06

Variant appearance in text: rs174547
PubMed Link: 32397743
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes and Eating Preferences, Their Roles in Personalized Nutrition.

Genes
A Vesnina, A Prosekov, O Kozlova, V Atuchin
Publication Date: 2020-03-27

Variant appearance in text: rs174547
PubMed Link: 32230794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of FADS1/2 Locus Variants and Polyunsaturated Fatty Acids With Aortic Stenosis.

Jama Cardiology
HY Chen, BJ Cairns, AM Small, HA Burr, A Ambikkumar, A Martinsson, S Thériault, HM Munter, B Steffen, R Zhang, RT Levinson, CM Shaffer, J Rong, E Sonestedt, L Dufresne, J Ljungberg, U Näslund, B Johansson, DK Ranatunga, RA Whitmer, MJ Budoff, A Nguyen, RS Vasan, MG Larson, WS Harris, SM Damrauer, KD Stark, SM Boekholdt, NJ Wareham, P Pibarot, BJ Arsenault, P Mathieu, V Gudnason, CJ O'Donnell, JI Rotter, MY Tsai, WS Post, R Clarke, S Söderberg, Y Bossé, QS Wells, JG Smith, DJ Rader, M Lathrop, JC Engert, G Thanassoulis
Publication Date: 2020-06-01

Variant appearance in text: rs174547
PubMed Link: 32186652
Variant Present in the following documents:
  • Main text
View BVdb publication page



A trans-ethnic two-stage polygenetic scoring analysis detects genetic correlation between osteoporosis and schizophrenia.

Clinical And Translational Medicine
L Liu, Y Wen, Y Ning, P Li, B Cheng, S Cheng, L Zhang, M Ma, X Qi, C Liang, T Yang, X Chen, L Tan, H Shen, Q Tian, HW Deng, X Ma, F Zhang, F Zhu
Publication Date: 2020-02-27

Variant appearance in text: rs174547
PubMed Link: 32107650
Variant Present in the following documents:
  • Main text
View BVdb publication page



FADS Genetic Variants in Taiwanese Modify Association of DHA Intake and Its Proportions in Human Milk.

Nutrients
WC Wu, HC Lin, WL Liao, YY Tsai, AC Chen, HC Chen, HY Lin, LN Liao, PM Chao
Publication Date: 2020-02-20

Variant appearance in text: rs174547
PubMed Link: 32093185
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
NK Khankari, BL Banbury, MC Borges, P Haycock, D Albanes, V Arndt, SI Berndt, S Bézieau, H Brenner, PT Campbell, G Casey, AT Chan, J Chang-Claude, DV Conti, M Cotterchio, DR English, JC Figueiredo, GG Giles, EL Giovannucci, MJ Gunter, J Hampe, M Hoffmeister, JL Hopper, MA Jenkins, AD Joshi, LL Marchand, M Lemire, CI Li, L Li, A Lindblom, V Martín, V Moreno, PA Newcomb, K Offit, PDP Pharoah, G Rennert, LC Sakoda, C Schafmayer, SL Schmit, ML Slattery, M Song, SN Thibodeau, CM Ulrich, SJ Weinstein, E White, AK Win, A Wolk, MO Woods, AH Wu, Q Cai, JC Denny, TL Edwards, HJ Murff, SB Gruber, U Peters, W Zheng
Publication Date: 2020-04

Variant appearance in text: rs174547
PubMed Link: 32051193
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biological Role of Unsaturated Fatty Acid Desaturases in Health and Disease.

Nutrients
A Czumaj, T Śledziński
Publication Date: 2020-01-29

Variant appearance in text: rs174547
PubMed Link: 32013225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Study for Serum Omega-3 and Omega-6 Polyunsaturated Fatty Acids: Exploratory Analysis of the Sex-Specific Effects and Dietary Modulation in Mediterranean Subjects with Metabolic Syndrome.

Nutrients
O Coltell, JV Sorlí, EM Asensio, R Barragán, JI González, IM Giménez-Alba, V Zanón-Moreno, R Estruch, JB Ramírez-Sabio, EC Pascual, C Ortega-Azorín, JM Ordovas, D Corella
Publication Date: 2020-01-24

Variant appearance in text: rs174547
PubMed Link: 31991592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.

Scientific Reports
F Al-Khelaifi, I Diboun, F Donati, F Botrè, D Abraham, A Hingorani, O Albagha, C Georgakopoulos, K Suhre, NA Yousri, MA Elrayess
Publication Date: 2019-12-27

Variant appearance in text: rs174547
PubMed Link: 31882771
Variant Present in the following documents:
  • 41598_2019_Article_56496.pdf
  • aaaaaMain text
View BVdb publication page



Plasma Phospholipid Fatty Acids, FADS1 and Risk of 15 Cardiovascular Diseases: A Mendelian Randomisation Study.

Nutrients
S Yuan, M Bäck, M Bruzelius, AM Mason, S Burgess, S Larsson
Publication Date: 2019-12-07

Variant appearance in text: rs174547
PubMed Link: 31817859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genetic variants related to plasma fatty acids with type 2 diabetes mellitus and glycaemic traits: a Mendelian randomisation study.

Diabetologia
S Yuan, SC Larsson
Publication Date: 2020-01

Variant appearance in text: rs174547
PubMed Link: 31690987
Variant Present in the following documents:
  • 125_2019_5019_MOESM1_ESM.xlsx
  • 125_2019_Article_5019.pdf
  • aaaaaMain text
View BVdb publication page



Polyunsaturated fatty acids and risk of Alzheimer's disease: a Mendelian randomization study.

European Journal Of Nutrition
Y Tomata, SC Larsson, S Hägg
Publication Date: 2020-06

Variant appearance in text: rs174547
PubMed Link: 31676950
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard
Publication Date: 2019-10-21

Variant appearance in text: rs174547
PubMed Link: 31636271
Variant Present in the following documents:
  • 41467_2019_12703_MOESM11_ESM.xlsx
  • 41467_2019_12703_MOESM12_ESM.xlsx
  • 41467_2019_12703_MOESM13_ESM.xlsx
  • 41467_2019_12703_MOESM3_ESM.xlsx
  • 41467_2019_12703_MOESM4_ESM.xlsx
  • 41467_2019_12703_MOESM6_ESM.xlsx
View BVdb publication page



Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.

Plos One
N Geidenstam, YH Hsu, CM Astley, JM Mercader, M Ridderstråle, ME Gonzalez, C Gonzalez, JN Hirschhorn, RM Salem
Publication Date: 2019

Variant appearance in text: rs174547
PubMed Link: 31560688
Variant Present in the following documents:
  • pone.0222445.s016.xlsx
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs174547
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
  • 41467_2019_11954_MOESM6_ESM.xlsx
  • 41467_2019_11954_MOESM9_ESM.xlsx
View BVdb publication page



Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, Proteomics & Bioinformatics
Z Du, L Ma, H Qu, W Chen, B Zhang, X Lu, W Zhai, X Sheng, Y Sun, W Li, M Lei, Q Qi, N Yuan, S Shi, J Zeng, J Wang, Y Yang, Q Liu, Y Hong, L Dong, Z Zhang, D Zou, Y Wang, S Song, F Liu, X Fang, H Chen, X Liu, J Xiao, C Zeng
Publication Date: 2019-06

Variant appearance in text: rs174547
PubMed Link: 31494266
Variant Present in the following documents:
  • mmc29.xlsx
View BVdb publication page



Altered polyunsaturated fatty acid levels in relation to proinflammatory cytokines, fatty acid desaturase genotype, and diet in bipolar disorder.

Translational Psychiatry
N Koga, J Ogura, F Yoshida, K Hattori, H Hori, E Aizawa, I Ishida, H Kunugi
Publication Date: 2019-08-27

Variant appearance in text: rs174547
PubMed Link: 31455761
Variant Present in the following documents:
  • 41398_2019_536_MOESM1_ESM.docx
  • 41398_2019_536_MOESM2_ESM.docx
  • aaaaaMain text
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs174547
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Interaction of Dietary Linoleic Acid and α-Linolenic Acids with rs174547 in FADS1 Gene on Metabolic Syndrome Components among Vegetarians.

Nutrients
YK Ching, YS Chin, M Appukutty, V Ramanchadran, CY Yu, GY Ang, WY Gan, YM Chan, LK Teh, MZ Salleh
Publication Date: 2019-07-23

Variant appearance in text: rs174547
PubMed Link: 31340443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic architecture and adaptations of Nunavik Inuit.

Proceedings Of The National Academy Of Sciences Of The United States Of America
S Zhou, P Xie, A Quoibion, A Ambalavanan, A Dionne-Laporte, D Spiegelman, CV Bourassa, L Xiong, PA Dion, GA Rouleau
Publication Date: 2019-08-06

Variant appearance in text: rs174547
PubMed Link: 31332017
Variant Present in the following documents:
  • pnas.1810388116.sapp.pdf
  • pnas.1810388116.sd02.xlsx
View BVdb publication page



Plasma Phospholipid Fatty Acids and Risk of Atrial Fibrillation: A Mendelian Randomization Study.

Nutrients
S Yuan, SC Larsson
Publication Date: 2019-07-19

Variant appearance in text: rs174547
PubMed Link: 31331006
Variant Present in the following documents:
  • Main text
  • nutrients-11-01651-s001.xlsx
View BVdb publication page



Biomarkers of Dietary Omega-6 Fatty Acids and Incident Cardiovascular Disease and Mortality.

Circulation
M Marklund, JHY Wu, F Imamura, LC Del Gobbo, A Fretts, J de Goede, P Shi, N Tintle, M Wennberg, S Aslibekyan, TA Chen, MC de Oliveira Otto, Y Hirakawa, HH Eriksen, J Kröger, F Laguzzi, M Lankinen, RA Murphy, K Prem, C Samieri, J Virtanen, AC Wood, K Wong, WS Yang, X Zhou, A Baylin, JMA Boer, IA Brouwer, H Campos, PHM Chaves, KL Chien, U de Faire, L Djoussé, G Eiriksdottir, N El-Abbadi, NG Forouhi, J Michael Gaziano, JM Geleijnse, B Gigante, G Giles, E Guallar, V Gudnason, T Harris, WS Harris, C Helmer, ML Hellenius, A Hodge, FB Hu, PF Jacques, JH Jansson, A Kalsbeek, KT Khaw, WP Koh, M Laakso, K Leander, HJ Lin, L Lind, R Luben, J Luo, B McKnight, J Mursu, T Ninomiya, K Overvad, BM Psaty, E Rimm, MB Schulze, D Siscovick, M Skjelbo Nielsen, AV Smith, BT Steffen, L Steffen, Q Sun, J Sundström, MY Tsai, H Tunstall-Pedoe, MIJ Uusitupa, RM van Dam, J Veenstra, WM Monique Verschuren, N Wareham, W Willett, M Woodward, JM Yuan, R Micha, RN Lemaitre, D Mozaffarian, U Risérus,
Publication Date: 2019-05-21

Variant appearance in text: rs174547
PubMed Link: 30971107
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Scientific Perspective of Personalised Gene-Based Dietary Recommendations for Weight Management.

Nutrients
T Drabsch, C Holzapfel
Publication Date: 2019-03-14

Variant appearance in text: rs174547
PubMed Link: 30875721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of linoleic acid on ischemic heart disease and its risk factors: a Mendelian randomization study.

Bmc Medicine
JV Zhao, CM Schooling
Publication Date: 2019-03-14

Variant appearance in text: rs174547
PubMed Link: 30866921
Variant Present in the following documents:
  • Main text
View BVdb publication page



Docosapentaenoic acid and lung cancer risk: A Mendelian randomization study.

Cancer Medicine
J Liu, H Zhou, Y Zhang, Y Huang, W Fang, Y Yang, S Hong, G Chen, S Zhao, X Chen, Z Zhang, J Shen, W Xian, J Zhan, Y Zhao, X Hou, Y Ma, T Zhou, H Zhao, L Zhang
Publication Date: 2019-04

Variant appearance in text: rs174547
PubMed Link: 30741477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomisation: A powerful and inexpensive method for identifying and excluding non-genetic risk factors for colorectal cancer.

Molecular Aspects Of Medicine
AJ Cornish, IPM Tomlinson, RS Houlston
Publication Date: 2019-10

Variant appearance in text: rs174547
PubMed Link: 30710596
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

European Journal Of Human Genetics : Ejhg
J van Setten, N Verweij, H Mbarek, MN Niemeijer, S Trompet, DE Arking, JA Brody, I Gandin, N Grarup, LM Hall, D Hemerich, LP Lyytikäinen, H Mei, M Müller-Nurasyid, BP Prins, A Robino, AV Smith, HR Warren, FW Asselbergs, DI Boomsma, MJ Caulfield, M Eijgelsheim, I Ford, T Hansen, TB Harris, SR Heckbert, JJ Hottenga, A Iorio, JA Kors, A Linneberg, PW MacFarlane, T Meitinger, CP Nelson, OT Raitakari, CT Silva Aldana, G Sinagra, M Sinner, EZ Soliman, M Stoll, A Uitterlinden, CM van Duijn, M Waldenberger, A Alonso, P Gasparini, V Gudnason, Y Jamshidi, S Kääb, JK Kanters, T Lehtimäki, PB Munroe, A Peters, NJ Samani, N Sotoodehnia, S Ulivi, JG Wilson, EJC de Geus, JW Jukema, B Stricker, P van der Harst, PIW de Bakker, A Isaacs
Publication Date: 2019-06

Variant appearance in text: rs174547
PubMed Link: 30679814
Variant Present in the following documents:
  • 41431_2018_295_MOESM1_ESM.docx
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs174547
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
View BVdb publication page



Liver DNA methylation of FADS2 associates with FADS2 genotype.

Clinical Epigenetics
P Walle, V Männistö, VD de Mello, M Vaittinen, A Perfilyev, K Hanhineva, C Ling, J Pihlajamäki
Publication Date: 2019-01-17

Variant appearance in text: rs174547
PubMed Link: 30654845
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying genetic markers associated with susceptibility to cardiovascular diseases.

Future Science Oa
H Shukla, JL Mason, A Sabyah
Publication Date: 2019-01

Variant appearance in text: rs174547
PubMed Link: 30652019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nutritional Genomics of Cardiovascular Disease.

Current Genetic Medicine Reports
VS Voruganti
Publication Date: 2018-06

Variant appearance in text: rs174547
PubMed Link: 30581653
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-Based Elevated Triglycerides and Type 2 Diabetes Mellitus Risk in the Women's Genome Health Study.

Arteriosclerosis, Thrombosis, And Vascular Biology
S Ahmad, S Mora, PM Ridker, FB Hu, DI Chasman
Publication Date: 2019-01

Variant appearance in text: rs174547
PubMed Link: 30565958
Variant Present in the following documents:
  • NIHMS1512616-supplement-Supplemental_Material.pdf
View BVdb publication page



Erythrocyte PUFAs, circulating acylcarnitines, and metabolic syndrome risk: a prospective study in Chinese.

Journal Of Lipid Research
Y Ma, L Sun, J Li, Y Hu, Z Gan, G Zong, H Zheng, Q Jin, H Li, FB Hu, R Zeng, Q Sun, X Lin
Publication Date: 2019-02

Variant appearance in text: rs174547
PubMed Link: 30552288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replicated associations of FADS1, MAD1L1, and a rare variant at 10q26.13 with bipolar disorder in Chinese population.

Translational Psychiatry
L Zhao, H Chang, DS Zhou, J Cai, W Fan, W Tang, W Tang, X Li, W Liu, F Liu, Y He, Y Bai, Y Sun, J Dai, L Li, X Xiao, C Zhang, M Li
Publication Date: 2018-12-07

Variant appearance in text: rs174547
PubMed Link: 30531795
Variant Present in the following documents:
  • 41398_2018_337_MOESM2_ESM.pdf
View BVdb publication page



Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern.

Frontiers In Genetics
P Maisano Delser, M Ravnik-Glavač, P Gasparini, D Glavač, M Mezzavilla
Publication Date: 2018

Variant appearance in text: rs174547
PubMed Link: 30510563
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx
View BVdb publication page



Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications
E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, AM Deaton, S Jonsson, OA Stefansson, GL Norddahl, F Zink, GA Arnadottir, B Gunnarsson, GH Halldorsson, A Helgadottir, BO Jensson, RP Kristjansson, G Sveinbjornsson, DA Sverrisson, G Masson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, H Holm, I Jonsdottir, S Olafsson, T Steingrimsdottir, T Rafnar, ES Bjornsson, U Thorsteinsdottir, DF Gudbjartsson, P Sulem, K Stefansson
Publication Date: 2018-11-30

Variant appearance in text: rs174547
PubMed Link: 30504769
Variant Present in the following documents:
  • 41467_2018_7460_MOESM9_ESM.xlsx
View BVdb publication page



A network-based conditional genetic association analysis of the human metabolome.

Gigascience
YA Tsepilov, SZ Sharapov, OO Zaytseva, J Krumsiek, C Prehn, J Adamski, G Kastenmüller, R Wang-Sattler, K Strauch, C Gieger, YS Aulchenko
Publication Date: 2018-12-01

Variant appearance in text: rs174547
PubMed Link: 30496450
Variant Present in the following documents:
  • Main text
  • giy137_giga-d-17-00337_original_submission.pdf
  • giy137_giga-d-17-00337_revision_1.pdf
  • giy137_giga-d-17-00337_revision_2.pdf
  • giy137_giga-d-17-00337_revision_3.pdf
View BVdb publication page



Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe.

Nature Communications
TC Lamnidis, K Majander, C Jeong, E Salmela, A Wessman, V Moiseyev, V Khartanovich, O Balanovsky, M Ongyerth, A Weihmann, A Sajantila, J Kelso, S Pääbo, P Onkamo, W Haak, J Krause, S Schiffels
Publication Date: 2018-11-27

Variant appearance in text: rs174547
PubMed Link: 30479341
Variant Present in the following documents:
  • 41467_2018_7483_MOESM5_ESM.xlsx
View BVdb publication page



Genes and Dietary Fatty Acids in Regulation of Fatty Acid Composition of Plasma and Erythrocyte Membranes.

Nutrients
M Lankinen, M Uusitupa, U Schwab
Publication Date: 2018-11-16

Variant appearance in text: rs174547
PubMed Link: 30453550
Variant Present in the following documents:
  • Main text
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FADS1 and the Timing of Human Adaptation to Agriculture.

Molecular Biology And Evolution
S Mathieson, I Mathieson
Publication Date: 2018-12-01

Variant appearance in text: rs174547
PubMed Link: 30272210
Variant Present in the following documents:
  • Main text
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FADS1-FADS2 genetic polymorphisms are associated with fatty acid metabolism through changes in DNA methylation and gene expression.

Clinical Epigenetics
Z He, R Zhang, F Jiang, H Zhang, A Zhao, B Xu, L Jin, T Wang, W Jia, W Jia, C Hu
Publication Date: 2018-08-29

Variant appearance in text: rs174547
PubMed Link: 30157936
Variant Present in the following documents:
  • 13148_2018_545_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



Associations between Fatty Acid Intake and Status, Desaturase Activities, and FADS Gene Polymorphism in Centrally Obese Postmenopausal Polish Women.

Nutrients
A Muzsik, J Bajerska, HH Jeleń, A Gaca, A Chmurzynska
Publication Date: 2018-08-10

Variant appearance in text: rs174547
PubMed Link: 30103441
Variant Present in the following documents:
  • Main text
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Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia.

Science (New York, N.Y.)
S Tucci, SH Vohr, RC McCoy, B Vernot, MR Robinson, C Barbieri, BJ Nelson, W Fu, GA Purnomo, H Sudoyo, EE Eichler, G Barbujani, PM Visscher, JM Akey, RE Green
Publication Date: 2018-08-03

Variant appearance in text: rs174547
PubMed Link: 30072539
Variant Present in the following documents:
  • Main text
  • nihms-1045537.pdf
  • NIHMS1045537-supplement-Supplement.pdf
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Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration.

Plos One
LM Pujol-Lereis, G Liebisch, T Schick, Y Lin, F Grassmann, K Uchida, PF Zipfel, S Fauser, C Skerka, BHF Weber
Publication Date: 2018

Variant appearance in text: rs174547
PubMed Link: 30071029
Variant Present in the following documents:
  • pone.0200739.s001.doc
View BVdb publication page



PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

Nature Communications
J van Setten, JA Brody, Y Jamshidi, BR Swenson, AM Butler, H Campbell, FM Del Greco, DS Evans, Q Gibson, DF Gudbjartsson, KF Kerr, BP Krijthe, LP Lyytikäinen, C Müller, M Müller-Nurasyid, IM Nolte, S Padmanabhan, MD Ritchie, A Robino, AV Smith, M Steri, T Tanaka, A Teumer, S Trompet, S Ulivi, N Verweij, X Yin, DO Arnar, FW Asselbergs, JS Bader, J Barnard, J Bis, S Blankenberg, E Boerwinkle, Y Bradford, BM Buckley, MK Chung, D Crawford, M den Hoed, JC Denny, AF Dominiczak, GB Ehret, M Eijgelsheim, PT Ellinor, SB Felix, OH Franco, L Franke, TB Harris, H Holm, G Ilaria, A Iorio, M Kähönen, I Kolcic, JA Kors, EG Lakatta, LJ Launer, H Lin, HJ Lin, RJF Loos, SA Lubitz, PW Macfarlane, JW Magnani, IM Leach, T Meitinger, BD Mitchell, T Munzel, GJ Papanicolaou, A Peters, A Pfeufer, PP Pramstaller, OT Raitakari, JI Rotter, I Rudan, NJ Samani, D Schlessinger, CT Silva Aldana, MF Sinner, JD Smith, H Snieder, EZ Soliman, TD Spector, DJ Stott, K Strauch, KV Tarasov, U Thorsteinsdottir, AG Uitterlinden, DR Van Wagoner, U Völker, H Völzke, M Waldenberger, H Jan Westra, PS Wild, T Zeller, A Alonso, CL Avery, S Bandinelli, EJ Benjamin, F Cucca, M Dörr, L Ferrucci, P Gasparini, V Gudnason, C Hayward, SR Heckbert, AA Hicks, JW Jukema, S Kääb, T Lehtimäki, Y Liu, PB Munroe, A Parsa, O Polasek, BM Psaty, DM Roden, RB Schnabel, G Sinagra, K Stefansson, BH Stricker, P van der Harst, CM van Duijn, JF Wilson, SA Gharib, PIW de Bakker, A Isaacs, DE Arking, N Sotoodehnia
Publication Date: 2018-07-25

Variant appearance in text: rs174547
PubMed Link: 30046033
Variant Present in the following documents:
  • 41467_2018_4766_MOESM11_ESM.xlsx
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Identification of nine novel loci related to hematological traits in a Japanese population.

Physiological Genomics
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
Publication Date: 2018-09-01

Variant appearance in text: rs174547
PubMed Link: 29958078
Variant Present in the following documents:
  • TableS7.xlsx
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FADS Polymorphism, Omega-3 Fatty Acids and Diabetes Risk: A Systematic Review.

Nutrients
B Brayner, G Kaur, MA Keske, KM Livingstone
Publication Date: 2018-06-13

Variant appearance in text: rs174547
PubMed Link: 29899246
Variant Present in the following documents:
  • Main text
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Long-chain polyunsaturated fatty acids, gestation duration, and birth size: a Mendelian randomization study using fatty acid desaturase variants.

The American Journal Of Clinical Nutrition
JY Bernard, H Pan, IM Aris, M Moreno-Betancur, SE Soh, F Yap, KH Tan, LP Shek, YS Chong, PD Gluckman, PC Calder, KM Godfrey, MF Chong, MS Kramer, N Karnani, YS Lee
Publication Date: 2018-07-01

Variant appearance in text: rs174547
PubMed Link: 29878044
Variant Present in the following documents:
  • Main text
  • NIHMS78520-supplement-Supplemental_Material.docx
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The combined effects of FADS gene variation and dietary fats in obesity-related traits in a population from the far north of Sweden: the GLACIER Study.

International Journal Of Obesity (2005)
Y Chen, AC Estampador, M Keller, A Poveda, J Dalla-Riva, I Johansson, F Renström, A Kurbasic, PW Franks, TV Varga
Publication Date: 2019-04

Variant appearance in text: rs174547
PubMed Link: 29795460
Variant Present in the following documents:
  • NIHMS77016-supplement-S3_Table.pdf
  • NIHMS77016-supplement-S7_Table.pdf
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Genetically determined height was associated with lung cancer risk in East Asian population.

Cancer Medicine
L Wang, M Huang, H Ding, G Jin, L Chen, F Chen, H Shen
Publication Date: 2018-05-23

Variant appearance in text: rs174547
PubMed Link: 29790669
Variant Present in the following documents:
  • Main text
  • CAM4-7-3445-s001.docx
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The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.

Molecular Metabolism
J Hebebrand, T Peters, D Schijven, M Hebebrand, C Grasemann, TW Winkler, IM Heid, J Antel, M Föcker, L Tegeler, L Brauner, RAH Adan, JJ Luykx, CU Correll, IR König, A Hinney, L Libuda
Publication Date: 2018-06

Variant appearance in text: rs174547
PubMed Link: 29673576
Variant Present in the following documents:
  • mmc1.xlsx
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A genome-wide association study of red-blood cell fatty acids and ratios incorporating dietary covariates: Framingham Heart Study Offspring Cohort.

Plos One
A Kalsbeek, J Veenstra, J Westra, C Disselkoen, K Koch, KA McKenzie, J O'Bott, J Vander Woude, K Fischer, GC Shearer, WS Harris, NL Tintle
Publication Date: 2018

Variant appearance in text: rs174547
PubMed Link: 29652918
Variant Present in the following documents:
  • pone.0194882.s005.xlsx
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Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

Aging
AM Kulminski, J Huang, Y Loika, KG Arbeev, O Bagley, A Yashkin, M Duan, I Culminskaya
Publication Date: 2018-03-29

Variant appearance in text: rs174547
PubMed Link: 29615537
Variant Present in the following documents:
  • aging-10-101407-s002.xlsx
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PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics
A Verma, A Lucas, SS Verma, Y Zhang, N Josyula, A Khan, DN Hartzel, DR Lavage, J Leader, MD Ritchie, SA Pendergrass
Publication Date: 2018-04-05

Variant appearance in text: rs174547
PubMed Link: 29606303
Variant Present in the following documents:
  • mmc2.xlsx
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Tissue-specific impact of FADS cluster variants on FADS1 and FADS2 gene expression.

Plos One
LM Reynolds, TD Howard, I Ruczinski, K Kanchan, MC Seeds, RA Mathias, FH Chilton
Publication Date: 2018

Variant appearance in text: rs174547
PubMed Link: 29590160
Variant Present in the following documents:
  • Main text
  • pone.0194610.s002.xlsx
  • pone.0194610.s003.xlsx
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Lipid regulatory genes polymorphism in children with and without obesity and cardiometabolic risk factors: The CASPIAN-III study.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
S Hovsepian, SH Javanmard, M Mansourian, M Hashemipour, M Tajadini, R Kelishadi
Publication Date: 2018

Variant appearance in text: rs174547
PubMed Link: 29531563
Variant Present in the following documents:
  • Main text
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Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of FADS1 variants to arachidonic acid, a critical infant micronutrient.

Journal Of Medical Genetics
JC Mychaleckyj, U Nayak, ER Colgate, D Zhang, T Carstensen, S Ahmed, T Ahmed, AJ Mentzer, M Alam, BD Kirkpatrick, R Haque, ASG Faruque, WA Petri
Publication Date: 2018-07

Variant appearance in text: rs174547
PubMed Link: 29514873
Variant Present in the following documents:
  • Main text
  • jmedgenet-2017-105134supp005.pdf
  • jmedgenet-2017-105134supp008.pdf
  • jmedgenet-2017-105134supp009.pdf
  • jmedgenet-2017-105134supp010.pdf
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Dietary n-3 and n-6 polyunsaturated fatty acids, the FADS gene, and the risk of gastric cancer in a Korean population.

Scientific Reports
S Lee, J Lee, IJ Choi, YW Kim, KW Ryu, YI Kim, J Kim
Publication Date: 2018-02-28

Variant appearance in text: rs174547
PubMed Link: 29491470
Variant Present in the following documents:
  • Main text
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Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation.

Human Molecular Genetics
SB Zaghlool, DO Mook-Kanamori, S Kader, N Stephan, A Halama, R Engelke, H Sarwath, EK Al-Dous, YA Mohamoud, W Roemisch-Margl, J Adamski, G Kastenmüller, N Friedrich, A Visconti, PC Tsai, T Spector, JT Bell, M Falchi, A Wahl, M Waldenberger, A Peters, C Gieger, M Pezer, G Lauc, J Graumann, JA Malek, K Suhre
Publication Date: 2018-03-15

Variant appearance in text: rs174547
PubMed Link: 29325019
Variant Present in the following documents:
  • Main text
  • supplementary_tables_ddy006.xlsx
View BVdb publication page



Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution.

American Journal Of Human Genetics
A Abadi, A Alyass, S Robiou du Pont, B Bolker, P Singh, V Mohan, R Diaz, JC Engert, S Yusuf, HC Gerstein, SS Anand, D Meyre
Publication Date: 2017-12-07

Variant appearance in text: rs174547
PubMed Link: 29220676
Variant Present in the following documents:
  • mmc4.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000350997.7 c.1248+52A>G - intron_variant - 9/11
ENST00000433932.1 c.825+52A>G - intron_variant - 9/11
ENST00000460649.1 c.183+52A>G - intron_variant - 2/4
ENST00000496123.2 n.522+52A>G - intron_variant,non_coding_transcript_variant - 6/7
ENST00000536991.1 c.321+52A>G - intron_variant - 3/5
ENST00000542506.1 c.825+52A>G - intron_variant - 9/11
ENST00000574708.1 c.-55+10283T>C - intron_variant - 1/2
NM_013402.7 c.1248+52A>G - intron_variant - 9/11