NPC1L1 c.-18C>A

Variant ID: 7-44580876-G-T

NM_001101648.1(NPC1L1):c.-18C>A

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: NPC1L1: -18C>A; rs41279633
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Associations of Lipids and Lipid-Lowering Drugs with Risk of Vascular Dementia: A Mendelian Randomization Study.

Nutrients
Zhang, Xiaoyu X; Geng, Tao T; Li, Ning N; Wu, Lijuan L; Wang, Youxin Y; Zheng, Deqiang D; Guo, Bo B; Wang, Baoguo B
Publication Date: 2022-12-23

Variant appearance in text: rs41279633
PubMed Link: 36615727
Variant Present in the following documents:
  • Main text
  • nutrients-15-00069.pdf
View BVdb publication page



Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Nature Genetics
Aragam, Krishna G KG; Jiang, Tao T; Goel, Anuj A; Kanoni, Stavroula S; Wolford, Brooke N BN; Atri, Deepak S DS; Weeks, Elle M EM; Wang, Minxian M; Hindy, George G; Zhou, Wei W; Grace, Christopher C; Roselli, Carolina C; Marston, Nicholas A NA; Kamanu, Frederick K FK; Surakka, Ida I; Venegas, Loreto Muñoz LM; Sherliker, Paul P; Koyama, Satoshi S; Ishigaki, Kazuyoshi K; Åsvold, Bjørn O BO; Brown, Michael R MR; Brumpton, Ben B; de Vries, Paul S PS; Giannakopoulou, Olga O; Giardoglou, Panagiota P; Gudbjartsson, Daniel F DF; Güldener, Ulrich U; Haider, Syed M Ijlal SMI; Helgadottir, Anna A; Ibrahim, Maysson M; Kastrati, Adnan A; Kessler, Thorsten T; Kyriakou, Theodosios T; Konopka, Tomasz T; Li, Ling L; Ma, Lijiang L; Meitinger, Thomas T; Mucha, Sören S; Munz, Matthias M; Murgia, Federico F; Nielsen, Jonas B JB; Nöthen, Markus M MM; Pang, Shichao S; Reinberger, Tobias T; Schnitzler, Gavin G; Smedley, Damian D; Thorleifsson, Gudmar G; von Scheidt, Moritz M; Ulirsch, Jacob C JC; , ; , ; Arnar, David O DO; Burtt, Noël P NP; Costanzo, Maria C MC; Flannick, Jason J; Ito, Kaoru K; Jang, Dong-Keun DK; Kamatani, Yoichiro Y; Khera, Amit V AV; Komuro, Issei I; Kullo, Iftikhar J IJ; Lotta, Luca A LA; Nelson, Christopher P CP; Roberts, Robert R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Webb, Thomas R TR; Baras, Aris A; Björkegren, Johan L M JLM; Boerwinkle, Eric E; Dedoussis, George G; Holm, Hilma H; Hveem, Kristian K; Melander, Olle O; Morrison, Alanna C AC; Orho-Melander, Marju M; Rallidis, Loukianos S LS; Ruusalepp, Arno A; Sabatine, Marc S MS; Stefansson, Kari K; Zalloua, Pierre P; Ellinor, Patrick T PT; Farrall, Martin M; Danesh, John J; Ruff, Christian T CT; Finucane, Hilary K HK; Hopewell, Jemma C JC; Clarke, Robert R; Gupta, Rajat M RM; Erdmann, Jeanette J; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; Willer, Cristen J CJ; Deloukas, Panos P; Kathiresan, Sekar S; Butterworth, Adam S AS; ,
Publication Date: 2022-12

Variant appearance in text: rs41279633
PubMed Link: 36474045
Variant Present in the following documents:
  • Main text
  • 41588_2022_Article_1233.pdf
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The Etiology of Cholelithiasis in Children and Adolescents-A Literature Review.

International Journal Of Molecular Sciences
Zdanowicz, Katarzyna K; Daniluk, Jaroslaw J; Lebensztejn, Dariusz Marek DM; Daniluk, Urszula U
Publication Date: 2022-11-02

Variant appearance in text: rs41279633
PubMed Link: 36362164
Variant Present in the following documents:
  • Main text
  • ijms-23-13376.pdf
View BVdb publication page



Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.

Nature Communications
Cadby, Gemma G; Giles, Corey C; Melton, Phillip E PE; Huynh, Kevin K; Mellett, Natalie A NA; Duong, Thy T; Nguyen, Anh A; Cinel, Michelle M; Smith, Alex A; Olshansky, Gavriel G; Wang, Tingting T; Brozynska, Marta M; Inouye, Mike M; McCarthy, Nina S NS; Ariff, Amir A; Hung, Joseph J; Hui, Jennie J; Beilby, John J; Dubé, Marie-Pierre MP; Watts, Gerald F GF; Shah, Sonia S; Wray, Naomi R NR; Lim, Wei Ling Florence WLF; Chatterjee, Pratishtha P; Martins, Ian I; Laws, Simon M SM; Porter, Tenielle T; Vacher, Michael M; Bush, Ashley I AI; Rowe, Christopher C CC; Villemagne, Victor L VL; Ames, David D; Masters, Colin L CL; Taddei, Kevin K; Arnold, Matthias M; Kastenmüller, Gabi G; Nho, Kwangsik K; Saykin, Andrew J AJ; Han, Xianlin X; Kaddurah-Daouk, Rima R; Martins, Ralph N RN; Blangero, John J; Meikle, Peter J PJ; Moses, Eric K EK
Publication Date: 2022-06-06

Variant appearance in text: rs41279633
PubMed Link: 35668104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of lipid-lowering drugs with COVID-19 outcomes from a Mendelian randomization study.

Elife
Huang, Wuqing W; Xiao, Jun J; Ji, Jianguang J; Chen, Liangwan L
Publication Date: 2021-12-06

Variant appearance in text: rs41279633
PubMed Link: 34866576
Variant Present in the following documents:
  • Main text
  • elife-73873.pdf
View BVdb publication page



Association of lipid-lowering drugs with COVID-19 outcomes from a Mendelian randomization study.

Elife
Huang, Wuqing W; Xiao, Jun J; Ji, Jianguang J; Chen, Liangwan L
Publication Date: 2021-12-06

Variant appearance in text: rs41279633
PubMed Link: 34866576
Variant Present in the following documents:
  • Main text
  • elife-73873.pdf
View BVdb publication page



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: NPC1L1: -18C>A; rs41279633
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: NPC1L1: -18C>A; rs41279633
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 23
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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.

Nature Genetics
Li, Xihao X; Li, Zilin Z; Zhou, Hufeng H; Gaynor, Sheila M SM; Liu, Yaowu Y; Chen, Han H; Sun, Ryan R; Dey, Rounak R; Arnett, Donna K DK; Aslibekyan, Stella S; Ballantyne, Christie M CM; Bielak, Lawrence F LF; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Broome, Jai G JG; Conomos, Matthew P MP; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Freedman, Barry I BI; Guo, Xiuqing X; Hindy, George G; Irvin, Marguerite R MR; Kardia, Sharon L R SLR; Kathiresan, Sekar S; Khan, Alyna T AT; Kooperberg, Charles L CL; Laurie, Cathy C CC; Liu, X Shirley XS; Mahaney, Michael C MC; Manichaikul, Ani W AW; Martin, Lisa W LW; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Montasser, May E ME; Moore, Jill E JE; Morrison, Alanna C AC; O'Connell, Jeffrey R JR; Palmer, Nicholette D ND; Pampana, Akhil A; Peralta, Juan M JM; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Smith, Jennifer A JA; Tiwari, Hemant K HK; Tsai, Michael Y MY; Vasan, Ramachandran S RS; Wang, Fei Fei FF; Weeks, Daniel E DE; Weng, Zhiping Z; Wilson, James G JG; Yanek, Lisa R LR; , ; , ; Neale, Benjamin M BM; Sunyaev, Shamil R SR; Abecasis, Gonçalo R GR; Rotter, Jerome I JI; Willer, Cristen J CJ; Peloso, Gina M GM; Natarajan, Pradeep P; Lin, Xihong X
Publication Date: 2020-09

Variant appearance in text: rs41279633
PubMed Link: 32839606
Variant Present in the following documents:
  • Main text
  • nihms-1609187.pdf
View BVdb publication page



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: NPC1L1: -18C>A; rs41279633
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



SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,
Publication Date: 2019-03

Variant appearance in text: rs41279633
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
  • LIV-39-463.pdf
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs41279633
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
View BVdb publication page



Polymorphisms of the Niemann-Pick C1-like 1 gene in a Japanese population.

Biomedical Reports
Osaki, Rie R; Imaeda, Hirotsugu H; Takahashi, Kenichiro K; Fujimoto, Takehide T; Takeuchi, Takayuki T; Fujiyama, Yoshihide Y; Andoh, Akira A
Publication Date: 2013-01

Variant appearance in text: rs41279633
PubMed Link: 24648913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: NPC1L1: -18C>A; rs41279633
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page