ACADS c.473-116T>C

Variant ID: 12-121175524-T-C

NM_000017.2(ACADS):c.473-116T>C

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Association between Genotype and the Glycemic Response to an Oral Glucose Tolerance Test: A Systematic Review.

Nutrients
Bayer, Sandra S; Reik, Anna A; von Hesler, Lena L; Hauner, Hans H; Holzapfel, Christina C
Publication Date: 2023-03-30

Variant appearance in text: rs2014355
PubMed Link: 37049537
Variant Present in the following documents:
  • nutrients-15-01695.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: rs2014355
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults.

Medicine
Yang, Tzi-Peng TP; Shih, Fen-Fen FF; Hsu, Ming-Yi MY; Tsai, Meng-Hsiun MH; Nfor, Oswald Ndi ON; Chen, Pei-Hsing PH; Ho, Chien-Chang CC; Lin, Chuan-Chao CC; Liaw, Yung-Po YP
Publication Date: 2021-01-08

Variant appearance in text: rs2014355
PubMed Link: 33429745
Variant Present in the following documents:
  • Main text
  • medi-100-e23838.pdf
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Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants.

Plos One
Matejka, Kerstin K; Stückler, Ferdinand F; Salomon, Michael M; Ensenauer, Regina R; Reischl, Eva E; Hoerburger, Lena L; Grallert, Harald H; Kastenmüller, Gabi G; Peters, Annette A; Daniel, Hannelore H; Krumsiek, Jan J; Theis, Fabian J FJ; Hauner, Hans H; Laumen, Helmut H
Publication Date: 2019

Variant appearance in text: rs2014355
PubMed Link: 31120904
Variant Present in the following documents:
  • Main text
  • pone.0216110.pdf
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The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.

Molecular Metabolism
Hebebrand, Johannes J; Peters, Triinu T; Schijven, Dick D; Hebebrand, Moritz M; Grasemann, Corinna C; Winkler, Thomas W TW; Heid, Iris M IM; Antel, Jochen J; Föcker, Manuel M; Tegeler, Lisa L; Brauner, Lena L; Adan, Roger A H RAH; Luykx, Jurjen J JJ; Correll, Christoph U CU; König, Inke R IR; Hinney, Anke A; Libuda, Lars L
Publication Date: 2018-06

Variant appearance in text: rs2014355
PubMed Link: 29673576
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

Journal Of The American Society Of Nephrology : Jasn
Li, Yong Y; Sekula, Peggy P; Wuttke, Matthias M; Wahrheit, Judith J; Hausknecht, Birgit B; Schultheiss, Ulla T UT; Gronwald, Wolfram W; Schlosser, Pascal P; Tucci, Sara S; Ekici, Arif B AB; Spiekerkoetter, Ute U; Kronenberg, Florian F; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Köttgen, Anna A; ,
Publication Date: 2018-05

Variant appearance in text: rs2014355
PubMed Link: 29545352
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Imgenberg-Kreuz, Juliana J; Carlsson Almlöf, Jonas J; Leonard, Dag D; Alexsson, Andrei A; Nordmark, Gunnel G; Eloranta, Maija-Leena ML; Rantapää-Dahlqvist, Solbritt S; Bengtsson, Anders A AA; Jönsen, Andreas A; Padyukov, Leonid L; Gunnarsson, Iva I; Svenungsson, Elisabet E; Sjöwall, Christopher C; Rönnblom, Lars L; Syvänen, Ann-Christine AC; Sandling, Johanna K JK
Publication Date: 2018-05

Variant appearance in text: rs2014355
PubMed Link: 29437559
Variant Present in the following documents:
  • annrheumdis-2017-212379supp016.pdf
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Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports
Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K
Publication Date: 2017-07-20

Variant appearance in text: rs2014355
PubMed Link: 28729637
Variant Present in the following documents:
  • 41598_2017_6158_MOESM1_ESM.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2014355
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

American Journal Of Human Genetics
Bello, Luca L; Flanigan, Kevin M KM; Weiss, Robert B RB; , ; Spitali, Pietro P; Aartsma-Rus, Annemieke A; Muntoni, Francesco F; Zaharieva, Irina I; Ferlini, Alessandra A; Mercuri, Eugenio E; Tuffery-Giraud, Sylvie S; Claustres, Mireille M; Straub, Volker V; Lochmüller, Hanns H; Barp, Andrea A; Vianello, Sara S; Pegoraro, Elena E; Punetha, Jaya J; Gordish-Dressman, Heather H; Giri, Mamta M; McDonald, Craig M CM; Hoffman, Eric P EP; ,
Publication Date: 2016-11-03

Variant appearance in text: rs2014355
PubMed Link: 27745838
Variant Present in the following documents:
  • Main text
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Metabolic heritability at birth: implications for chronic disease research.

Human Genetics
Ryckman, Kelli K KK; Smith, Caitlin J CJ; Jelliffe-Pawlowski, Laura L LL; Momany, Allison M AM; Berberich, Stanton L SL; Murray, Jeffrey C JC
Publication Date: 2014-08

Variant appearance in text: rs2014355
PubMed Link: 24850141
Variant Present in the following documents:
  • Main text
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Current status on genome-metabolome-wide associations: an opportunity in nutrition research.

Genes & Nutrition
Montoliu, Ivan I; Genick, Ulrich U; Ledda, Mirko M; Collino, Sebastiano S; Martin, François-Pierre FP; le Coutre, Johannes J; Rezzi, Serge S
Publication Date: 2013-01

Variant appearance in text: rs2014355
PubMed Link: 23065485
Variant Present in the following documents:
  • Main text
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SNPs affecting serum metabolomic traits may regulate gene transcription and lipid accumulation in the liver.

Metabolism: Clinical And Experimental
Mirkov, Snezana S; Myers, Jamie L JL; Ramírez, Jacqueline J; Liu, Wanqing W
Publication Date: 2012-11

Variant appearance in text: rs2014355
PubMed Link: 22738862
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of FOXA2 rs1209523 on glucose-related phenotypes and risk of type 2 diabetes in Danish individuals.

Bmc Medical Genetics
Banasik, Karina K; Hollensted, Mette M; Andersson, Ehm E; Sparsø, Thomas T; Sandbaek, Annelli A; Lauritzen, Torsten T; Jørgensen, Torben T; Witte, Daniel R DR; Pedersen, Oluf O; Hansen, Torben T
Publication Date: 2012-02-12

Variant appearance in text: rs2014355
PubMed Link: 22325233
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

Plos Genetics
Nicholson, George G; Rantalainen, Mattias M; Li, Jia V JV; Maher, Anthony D AD; Malmodin, Daniel D; Ahmadi, Kourosh R KR; Faber, Johan H JH; Barrett, Amy A; Min, Josine L JL; Rayner, N William NW; Toft, Henrik H; Krestyaninova, Maria M; Viksna, Juris J; Neogi, Sudeshna Guha SG; Dumas, Marc-Emmanuel ME; Sarkans, Ugis U; , ; Donnelly, Peter P; Illig, Thomas T; Adamski, Jerzy J; Suhre, Karsten K; Allen, Maxine M; Zondervan, Krina T KT; Spector, Tim D TD; Nicholson, Jeremy K JK; Lindon, John C JC; Baunsgaard, Dorrit D; Holmes, Elaine E; McCarthy, Mark I MI; Holmes, Chris C CC
Publication Date: 2011-09

Variant appearance in text: rs2014355
PubMed Link: 21931564
Variant Present in the following documents:
  • Main text
  • pgen.1002270.pdf
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The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load.

Bmc Medical Genetics
Hornbak, Malene M; Banasik, Karina K; Justesen, Johanne M JM; Krarup, Nikolaj T NT; Sandholt, Camilla H CH; Andersson, Åsa Å; Sandbæk, Annelli A; Lauritzen, Torsten T; Pisinger, Charlotta C; Witte, Daniel R DR; Sørensen, Thorkild A A TA; Pedersen, Oluf O; Hansen, Torben T
Publication Date: 2011-01-06

Variant appearance in text: rs2014355
PubMed Link: 21211036
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-4.pdf
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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: rs2014355
PubMed Link: 20037589
Variant Present in the following documents:
  • Main text
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Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

Plos Genetics
Gieger, Christian C; Geistlinger, Ludwig L; Altmaier, Elisabeth E; Hrabé de Angelis, Martin M; Kronenberg, Florian F; Meitinger, Thomas T; Mewes, Hans-Werner HW; Wichmann, H-Erich HE; Weinberger, Klaus M KM; Adamski, Jerzy J; Illig, Thomas T; Suhre, Karsten K
Publication Date: 2008-11

Variant appearance in text: rs2014355
PubMed Link: 19043545
Variant Present in the following documents:
  • Main text
  • pgen.1000282.pdf
View BVdb publication page