Publications:

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Interaction among dietary n-3 and n-6 polyunsaturated fatty acid intake, fatty acid desaturase 2 genetic variants, and low-density lipoprotein cholesterol levels in type 2 diabetes patients.

Journal Of Diabetes Investigation

Huang, Pei-Chi PC; Cheng, Hsuan H; Su, Yu-Ting YT; Huang, Meng-Chuan MC; Hsu, Chih-Cheng CC; Hwang, Shang-Jyh SJ; Shin, Shyi-Jang SJ; Chang, Wen-Tsan WT

Publication Date: 2022-11-22

Variant appearance in text: rs174602

PubMed Link: 36412559

Variant Present in the following documents:

• Main text
• JDI-14-297.pdf

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: FADS2: 745-69T>C; rs174602

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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Novel Interactions of Myristic Acid and FADS3 Variants Predict Atopic Dermatitis among Indonesian Infants.

Nutrients

Tanjung, Conny C; Harris, Carla P CP; Demmelmair, Hans H; Dwitya, Sarah S; Munasir, Zakiudin Z; Sudoyo, Herawati H; Standl, Marie M; Sjarif, Damayanti Rusli DR; Koletzko, Berthold B

Publication Date: 2022-11-04

Variant appearance in text: rs174602

PubMed Link: 36364938

Variant Present in the following documents:

• nutrients-14-04676.pdf

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs174602

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Maternal DHA-rich n-3 PUFAs supplementation interacts with FADS genotypes to influence the profiles of PUFAs in the colostrum among Chinese Han population: a birth cohort study.

Nutrition & Metabolism

Li, Ping P; Chen, Yuhui Y; Song, Jieyun J; Yan, Lailai L; Tang, Tiantian T; Wang, Rui R; Fan, Xiuqin X; Zhao, Yurong Y; Qi, Kemin K

Publication Date: 2022-07-23

Variant appearance in text: rs174602

PubMed Link: 35871074

Variant Present in the following documents:

• Main text
• 12986_2022_Article_683.pdf

View BVdb publication page

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FADS Polymorphisms Affect the Clinical and Biochemical Phenotypes of Metabolic Syndrome.

Metabolites

Žák, Aleš A; Jáchymová, Marie M; Burda, Michal M; Staňková, Barbora B; Zeman, Miroslav M; Slabý, Adolf A; Vecka, Marek M; Šeda, Ondřej O

Publication Date: 2022-06-20

Variant appearance in text: rs174602

PubMed Link: 35736500

Variant Present in the following documents:

• Main text
• metabolites-12-00568.pdf

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Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.

Bmj Open

Keathley, Justine J; Garneau, Véronique V; Marcil, Valérie V; Mutch, David M DM; Robitaille, Julie J; Rudkowska, Iwona I; Sofian, Gabriela Magdalena GM; Desroches, Sophie S; Vohl, Marie-Claude MC

Publication Date: 2022-02-22

Variant appearance in text: rs174602

PubMed Link: 35193914

Variant Present in the following documents:

• bmjopen-2021-054417supp001.pdf
• bmjopen-2021-054417.draft_revisions.pdf

View BVdb publication page

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Intake of n-3 polyunsaturated fatty acids in childhood, FADS genotype and incident asthma.

The European Respiratory Journal

Talaei, Mohammad M; Sdona, Emmanouela E; Calder, Philip C PC; Jones, Louise R LR; Emmett, Pauline M PM; Granell, Raquel R; Bergström, Anna A; Melén, Erik E; Shaheen, Seif O SO

Publication Date: 2021-09

Variant appearance in text: rs174602

PubMed Link: 33509958

Variant Present in the following documents:

• ERJ-03633-2020.SUPPLEMENT.pdf

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Long-Chain Polyunsaturated Fatty Acids, Homocysteine at Birth and Fatty Acid Desaturase Gene Cluster Polymorphisms are Associated with Children's Processing Speed up to Age 9 Years.

Nutrients

Campoy, Cristina C; Azaryah, Hatim H; Torres-Espínola, Francisco J FJ; Martínez-Zaldívar, Cristina C; García-Santos, José Antonio JA; Demmelmair, Hans H; Haile, Gudrun G; Györei, Eszter E; Ramírez-Tortosa, María Del Carmen MDC; Reischl, Eva E; Rzehak, Peter P; Molloy, Anne M AM; Décsi, Tamas T; Luna, Juan de Dios JD; Koletzko, Berthold B; Pérez-García, Miguel M

Publication Date: 2020-12-31

Variant appearance in text: rs174602

PubMed Link: 33396458

Variant Present in the following documents:

• nutrients-13-00131-s001.pdf

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

Nutrients

Jäger, Susanne S; Cuadrat, Rafael R; Hoffmann, Per P; Wittenbecher, Clemens C; Schulze, Matthias B MB

Publication Date: 2020-07-28

Variant appearance in text: rs174602

PubMed Link: 32731631

Variant Present in the following documents:

• Main text
• nutrients-12-02261.pdf

View BVdb publication page

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Maternal Long-Chain Polyunsaturated Fatty Acid Status, Methylmercury Exposure, and Birth Outcomes in a High-Fish-Eating Mother-Child Cohort.

The Journal Of Nutrition

Yeates, Alison Jayne AJ; Zavez, Alexis A; Thurston, Sally W SW; McSorley, Emeir M EM; Mulhern, Maria S MS; Alhamdow, Ayman A; Engström, Karin K; Wahlberg, Karin K; Strain, J J JJ; Watson, Gene E GE; Myers, Gary J GJ; Davidson, Philip W PW; Shamlaye, Conrad F CF; Broberg, Karin K; van Wijngaarden, Edwin E

Publication Date: 2020-07-01

Variant appearance in text: rs174602

PubMed Link: 32433731

Variant Present in the following documents:

• Main text

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Influence of fatty acid desaturase (FADS) genotype on maternal and child polyunsaturated fatty acids (PUFA) status and child health outcomes: a systematic review.

Nutrition Reviews

Conway, Marie C MC; McSorley, Emeir M EM; Mulhern, Maria S MS; Strain, J J JJ; van Wijngaarden, Edwin E; Yeates, Alison J AJ

Publication Date: 2020-08-01

Variant appearance in text: rs174602

PubMed Link: 31943072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs174602

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Fish and marine fatty acids intakes, the FADS genotypes and long-term weight gain: a prospective cohort study.

Bmj Open

Huang, Tao T; Wang, Tiange T; Heianza, Yoriko Y; Wiggs, Janey J; Sun, Dianjianyi D; Choi, Hyon-Kyoo HK; Chai, Jin Fang JF; Sim, Xueling X; Khor, Chiea Chuen CC; Friedlander, Yechiel Y; Chan, Andrew T AT; Curhan, Gary G; Vivo, Immaculata De I; van Dam, Rob Martinu RM; Heng, Chew Kiat CK; Fuchs, Charles C; Pasquale, Louis R LR; Yuan, Jian-Min JM; Hu, Frank B FB; Koh, Woon Puay WP; Qi, Lu L

Publication Date: 2019-07-31

Variant appearance in text: rs174602

PubMed Link: 31371282

Variant Present in the following documents:

• Main text
• bmjopen-2018-022877.draft_revisions.pdf
• bmjopen-2018-022877.pdf

View BVdb publication page

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Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.

Nutrients

Demmelmair, Hans H; MacDonald, Anita A; Kotzaeridou, Urania U; Burgard, Peter P; Gonzalez-Lamuno, Domingo D; Verduci, Elvira E; Ersoy, Melike M; Gokcay, Gulden G; Alyanak, Behiye B; Reischl, Eva E; Müller-Felber, Wolfgang W; Faber, Fabienne Lara FL; Handel, Uschi U; Paci, Sabrina S; Koletzko, Berthold B

Publication Date: 2018-12-07

Variant appearance in text: rs174602

PubMed Link: 30544518

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of fatty acid desaturase gene polymorphisms on long-chain polyunsaturated fatty acid composition in Indonesian infants.

The American Journal Of Clinical Nutrition

Tanjung, Conny C; Rzehak, Peter P; Sudoyo, Herawati H; Mansyur, Muchtaruddin M; Munasir, Zakiudin Z; Immanuel, Suzanna S; Irawan, Roedi R; Reischl, Eva E; Demmelmair, Hans H; Hadinegoro, Sri Rezeki SR; Sjarif, Damayanti Rusli DR; Koletzko, Berthold B

Publication Date: 2018-11-01

Variant appearance in text: rs174602

PubMed Link: 30475958

Variant Present in the following documents:

• Main text
• nqy166.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FADS2: 745-69T>C; rs174602

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children.

Bmc Psychiatry

Sun, Caihong C; Zou, Mingyang M; Wang, Xuelai X; Xia, Wei W; Ma, Yongjuan Y; Liang, Shuang S; Hao, Yanqiu Y; Wu, Lijie L; Fu, Songbin S

Publication Date: 2018-09-04

Variant appearance in text: rs174602

PubMed Link: 30180836

Variant Present in the following documents:

• Main text
• 12888_2018_Article_1868.pdf

View BVdb publication page

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FADS Polymorphism, Omega-3 Fatty Acids and Diabetes Risk: A Systematic Review.

Nutrients

Brayner, Bárbara B; Kaur, Gunveen G; Keske, Michelle A MA; Livingstone, Katherine M KM

Publication Date: 2018-06-13

Variant appearance in text: rs174602

PubMed Link: 29899246

Variant Present in the following documents:

• Main text
• nutrients-10-00758.pdf

View BVdb publication page

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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)

Chen, Yan Y; Estampador, Angela C AC; Keller, Maria M; Poveda, Alaitz A; Dalla-Riva, Jonathan J; Johansson, Ingegerd I; Renström, Frida F; Kurbasic, Azra A; Franks, Paul W PW; Varga, Tibor V TV

Publication Date: 2019-04

Variant appearance in text: rs174602

PubMed Link: 29795460

Variant Present in the following documents:

• Main text
• emss-77016.pdf

View BVdb publication page

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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

Mychaleckyj, Josyf C JC; Nayak, Uma U; Colgate, E Ross ER; Zhang, Dadong D; Carstensen, Tommy T; Ahmed, Shahnawaz S; Ahmed, Tahmeed T; Mentzer, Alexander J AJ; Alam, Masud M; Kirkpatrick, Beth D BD; Haque, Rashidul R; Faruque, Abu Syed Golam ASG; Petri, William A WA

Publication Date: 2018-07

Variant appearance in text: rs174602

PubMed Link: 29514873

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105134.pdf

View BVdb publication page

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Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.

Plos Biology

Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M

Publication Date: 2018-01

Variant appearance in text: rs174602

PubMed Link: 29315301

Variant Present in the following documents:

• pbio.2003703.s013.pdf
• pbio.2003703.s001.xlsx, sheet 1

View BVdb publication page

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Association of maternal weight with FADS and ELOVL genetic variants and fatty acid levels- The PREOBE follow-up.

Plos One

de la Garza Puentes, Andrea A; Montes Goyanes, Rosa R; Chisaguano Tonato, Aida Maribel AM; Torres-Espínola, Francisco José FJ; Arias García, Miriam M; de Almeida, Leonor L; Bonilla Aguirre, María M; Guerendiain, Marcela M; Castellote Bargalló, Ana Isabel AI; Segura Moreno, Maite M; García-Valdés, Luz L; Campoy, Cristina C; Lopez-Sabater, M Carmen MC; ,

Publication Date: 2017

Variant appearance in text: rs174602

PubMed Link: 28598979

Variant Present in the following documents:

• Main text
• pone.0179135.pdf

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ω-3 and ω-6 long-chain PUFAs and their enzymatic metabolites in neovascular eye diseases.

The American Journal Of Clinical Nutrition

Gong, Yan Y; Fu, Zhongjie Z; Liegl, Raffael R; Chen, Jing J; Hellström, Ann A; Smith, Lois Eh LE

Publication Date: 2017-07

Variant appearance in text: rs174602

PubMed Link: 28515072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI).

Bmj Open

Tanjung, Conny C; Rzehak, Peter P; Mansyur, Muchtaruddin M; Munasir, Zakiudin Z; Sudoyo, Herawati H; Immanuel, Suzanna S; Irawan, Roedi R; Reischl, Eva E; Demmelmair, Hans H; Koletzko, Berthold B; Hadinegoro, Sri Rezeki SR; Sjarif, Damayanti Rusli DR

Publication Date: 2017-03-03

Variant appearance in text: rs174602

PubMed Link: 28259851

Variant Present in the following documents:

• Main text
• bmjopen-2016-012475.pdf

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Maternal single nucleotide polymorphisms in the fatty acid desaturase 1 and 2 coding regions modify the impact of prenatal supplementation with DHA on birth weight.

The American Journal Of Clinical Nutrition

Gonzalez-Casanova, Ines I; Rzehak, Peter P; Stein, Aryeh D AD; Garcia Feregrino, Raquel R; Rivera Dommarco, Juan A JA; Barraza-Villarreal, Albino A; Demmelmair, Hans H; Romieu, Isabelle I; Villalpando, Salvador S; Martorell, Reynaldo R; Koletzko, Berthold B; Ramakrishnan, Usha U

Publication Date: 2016-04

Variant appearance in text: rs174602

PubMed Link: 26912491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of association of SNPs from the FADS1-FADS2 gene cluster with major depression or suicidal behavior.

Psychiatric Genetics

Sublette, M Elizabeth ME; Vaquero, Concepcion C; Baca-Garcia, Enrique E; Pachano, Gabriela G; Huang, Yung-Yu YY; Oquendo, Maria A MA; Mann, J John JJ

Publication Date: 2016-04

Variant appearance in text: rs174602

PubMed Link: 26513616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ethnicity, sex, FADS genetic variation, and hormonal contraceptive use influence delta-5- and delta-6-desaturase indices and plasma docosahexaenoic acid concentration in young Canadian adults: a cross-sectional study.

Nutrition & Metabolism

Abdelmagid, Salma A SA; Clarke, Shannon E SE; Roke, Kaitlin K; Nielsen, Daiva E DE; Badawi, Alaa A; El-Sohemy, Ahmed A; Mutch, David M DM; Ma, David Wl DW

Publication Date: 2015

Variant appearance in text: rs174602

PubMed Link: 25914723

Variant Present in the following documents:

• Main text
• 12986_2015_Article_10.pdf

View BVdb publication page

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Effects of FADS and ELOVL polymorphisms on indexes of desaturase and elongase activities: results from a pre-post fish oil supplementation.

Genes & Nutrition

Cormier, Hubert H; Rudkowska, Iwona I; Lemieux, Simone S; Couture, Patrick P; Julien, Pierre P; Vohl, Marie-Claude MC

Publication Date: 2014-11

Variant appearance in text: rs174602

PubMed Link: 25367143

Variant Present in the following documents:

• Main text
• 12263_2014_Article_437.pdf

View BVdb publication page

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Polymorphisms in Fatty Acid Desaturase (FADS) Gene Cluster: Effects on Glycemic Controls Following an Omega-3 Polyunsaturated Fatty Acids (PUFA) Supplementation.

Genes

Cormier, Hubert H; Rudkowska, Iwona I; Thifault, Elisabeth E; Lemieux, Simone S; Couture, Patrick P; Vohl, Marie-Claude MC

Publication Date: 2013-09-10

Variant appearance in text: rs174602

PubMed Link: 24705214

Variant Present in the following documents:

• Main text
• genes-04-00485.pdf

View BVdb publication page

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Association between polymorphisms in the fatty acid desaturase gene cluster and the plasma triacylglycerol response to an n-3 PUFA supplementation.

Nutrients

Cormier, Hubert H; Rudkowska, Iwona I; Paradis, Ann-Marie AM; Thifault, Elisabeth E; Garneau, Véronique V; Lemieux, Simone S; Couture, Patrick P; Vohl, Marie-Claude MC

Publication Date: 2012-08

Variant appearance in text: rs174602

PubMed Link: 23016130

Variant Present in the following documents:

• Main text
• nutrients-04-01026.pdf

View BVdb publication page

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Umbilical cord PUFA are determined by maternal and child fatty acid desaturase (FADS) genetic variants in the Avon Longitudinal Study of Parents and Children (ALSPAC).

The British Journal Of Nutrition

Lattka, Eva E; Koletzko, Berthold B; Zeilinger, Sonja S; Hibbeln, Joseph R JR; Klopp, Norman N; Ring, Susan M SM; Steer, Colin D CD

Publication Date: 2013-04-14

Variant appearance in text: rs174602

PubMed Link: 22877655

Variant Present in the following documents:

• Main text

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Genetic variation in polyunsaturated fatty acid metabolism and its potential relevance for human development and health.

Maternal & Child Nutrition

Glaser, Claudia C; Lattka, Eva E; Rzehak, Peter P; Steer, Colin C; Koletzko, Berthold B

Publication Date: 2011-04

Variant appearance in text: rs174602

PubMed Link: 21366865

Variant Present in the following documents:

• Main text

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Genetic variation in lipid desaturases and its impact on the development of human disease.

Lipids In Health And Disease

Merino, Diana M DM; Ma, David W L DW; Mutch, David M DM

Publication Date: 2010-06-18

Variant appearance in text: rs174602

PubMed Link: 20565855

Variant Present in the following documents:

• Main text
• 1476-511X-9-63.pdf

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Single nucleotide polymorphisms in the FADS gene cluster are associated with delta-5 and delta-6 desaturase activities estimated by serum fatty acid ratios.

Journal Of Lipid Research

Bokor, Szilvia S; Dumont, Julie J; Spinneker, Andre A; Gonzalez-Gross, Marcela M; Nova, Esther E; Widhalm, Kurt K; Moschonis, George G; Stehle, Peter P; Amouyel, Philippe P; De Henauw, Stefaan S; Molnàr, Dènes D; Moreno, Luis A LA; Meirhaeghe, Aline A; Dallongeville, Jean J; ,

Publication Date: 2010-08

Variant appearance in text: rs174602

PubMed Link: 20427696

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study.

Plos One

Edwards, Albert O AO; Fridley, Brooke L BL; James, Katherine M KM; Sharma, Anil K AK; Sharma, Anil S AS; Cunningham, Julie M JM; Tosakulwong, Nirubol N

Publication Date: 2008

Variant appearance in text: rs174602

PubMed Link: 19043567

Variant Present in the following documents:

• Main text
• pone.0003813.pdf

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