Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: rs662138

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM4_ESM.pdf
• 41588_2023_1409_MOESM5_ESM.pdf

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Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.

Nature Genetics

Schlosser, Pascal P; Li, Yong Y; Sekula, Peggy P; Raffler, Johannes J; Grundner-Culemann, Franziska F; Pietzner, Maik M; Cheng, Yurong Y; Wuttke, Matthias M; Steinbrenner, Inga I; Schultheiss, Ulla T UT; Kotsis, Fruzsina F; Kacprowski, Tim T; Forer, Lukas L; Hausknecht, Birgit B; Ekici, Arif B AB; Nauck, Matthias M; Völker, Uwe U; , ; Walz, Gerd G; Oefner, Peter J PJ; Kronenberg, Florian F; Mohney, Robert P RP; Köttgen, Michael M; Suhre, Karsten K; Eckardt, Kai-Uwe KU; Kastenmüller, Gabi G; Köttgen, Anna A

Publication Date: 2020-02

Variant appearance in text: rs662138

PubMed Link: 31959995

Variant Present in the following documents:

• Main text

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs662138

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content.

Plos Biology

Liang, Xiaomin X; Yee, Sook Wah SW; Chien, Huan-Chieh HC; Chen, Eugene C EC; Luo, Qi Q; Zou, Ling L; Piao, Meiling M; Mifune, Arias A; Chen, Ligong L; Calvert, Meredith E ME; King, Sarah S; Norheim, Frode F; Abad, Janna J; Krauss, Ronald M RM; Giacomini, Kathleen M KM

Publication Date: 2018-04

Variant appearance in text: rs662138

PubMed Link: 29659562

Variant Present in the following documents:

• Main text
• pbio.2002907.pdf

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Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport.

American Journal Of Human Genetics

Kim, Hye In HI; Raffler, Johannes J; Lu, Wenyun W; Lee, Jung-Jin JJ; Abbey, Deepti D; Saleheen, Danish D; Rabinowitz, Joshua D JD; Bennett, Michael J MJ; Hand, Nicholas J NJ; Brown, Christopher C; Rader, Daniel J DJ

Publication Date: 2017-10-05

Variant appearance in text: rs662138

PubMed Link: 28942964

Variant Present in the following documents:

• Main text

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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)

Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A

Publication Date: 2017-04-24

Variant appearance in text: rs662138

PubMed Link: 28438747

Variant Present in the following documents:

• benm033277.ww1.pdf

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Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.

Diabetologia

Fall, Tove T; Salihovic, Samira S; Brandmaier, Stefan S; Nowak, Christoph C; Ganna, Andrea A; Gustafsson, Stefan S; Broeckling, Corey D CD; Prenni, Jessica E JE; Kastenmüller, Gabi G; Peters, Annette A; Magnusson, Patrik K PK; Wang-Sattler, Rui R; Giedraitis, Vilmantas V; Berne, Christian C; Gieger, Christian C; Pedersen, Nancy L NL; Ingelsson, Erik E; Lind, Lars L

Publication Date: 2016-10

Variant appearance in text: rs662138

PubMed Link: 27406814

Variant Present in the following documents:

• Main text

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Organic cation transporter variation and response to smoking cessation therapies.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Bergen, Andrew W AW; Javitz, Harold S HS; Krasnow, Ruth R; Michel, Martha M; Nishita, Denise D; Conti, David V DV; Edlund, Christopher K CK; Kwok, Pui-Yan PY; McClure, Jennifer B JB; Kim, Richard B RB; Hall, Sharon M SM; Tyndale, Rachel F RF; Baker, Timothy B TB; Benowitz, Neal L NL; Swan, Gary E GE

Publication Date: 2014-12

Variant appearance in text: SLC22A1: 1277-97C>G; rs662138

PubMed Link: 25143296

Variant Present in the following documents:

• Main text

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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine

Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME

Publication Date: 2012-04-30

Variant appearance in text: rs662138

PubMed Link: 22546284

Variant Present in the following documents:

• Main text
• gm329.pdf

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Human metabolic individuality in biomedical and pharmaceutical research.

Nature

Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C

Publication Date: 2011-08-31

Variant appearance in text: rs662138

PubMed Link: 21886157

Variant Present in the following documents:

• Main text

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