Publications:

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications

Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K

Publication Date: 2020-12-18

Variant appearance in text: rs1169286

PubMed Link: 33339817

Variant Present in the following documents:

• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 3

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Improved Progression-Free Survival in Irinotecan-Treated Metastatic Colorectal Cancer Patients Carrying the HNF1A Coding Variant p.I27L.

Frontiers In Pharmacology

Labriet, Adrien A; De Mattia, Elena E; Cecchin, Erika E; Lévesque, Éric É; Jonker, Derek D; Couture, Félix F; Buonadonna, Angela A; D'Andrea, Mario M; Villeneuve, Lyne L; Toffoli, Giuseppe G; Guillemette, Chantal C

Publication Date: 2017

Variant appearance in text: rs1169286

PubMed Link: 29066969

Variant Present in the following documents:

• Main text
• Table_1.pdf
• fphar-08-00712.pdf

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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: rs1169286

PubMed Link: 28438747

Variant Present in the following documents:

• benm033277.ww1.pdf

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Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

Inflammation

Wu, Ying Y; McDade, Thomas W TW; Kuzawa, Christopher W CW; Borja, Judith J; Li, Yun Y; Adair, Linda S LS; Mohlke, Karen L KL; Lange, Leslie A LA

Publication Date: 2012-04

Variant appearance in text: rs1169286

PubMed Link: 21647738

Variant Present in the following documents:

• Main text

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Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

American Journal Of Human Genetics

Reiner, Alexander P AP; Barber, Mathew J MJ; Guan, Yongtao Y; Ridker, Paul M PM; Lange, Leslie A LA; Chasman, Daniel I DI; Walston, Jeremy D JD; Cooper, Gregory M GM; Jenny, Nancy S NS; Rieder, Mark J MJ; Durda, J Peter JP; Smith, Joshua D JD; Novembre, John J; Tracy, Russell P RP; Rotter, Jerome I JI; Stephens, Matthew M; Nickerson, Deborah A DA; Krauss, Ronald M RM

Publication Date: 2008-05

Variant appearance in text: rs1169286

PubMed Link: 18439552

Variant Present in the following documents:

• Main text

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