NPC1L1 c.816C>G ;(p.L272=)

Variant ID: 7-44579180-G-C

NM_001101648.1(NPC1L1):c.816C>G;(p.L272=)

This variant was identified in 61 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: N/A
PubMed Link: 36991000
Variant Present in the following documents:
View BVdb publication page



Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications
Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY
Publication Date: 2023-02-04

Variant appearance in text: NPC1L1: 816C>G; L272L
PubMed Link: 36739462
Variant Present in the following documents:
  • 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: NPC1L1: L272L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



CYP7A1, NPC1L1, ABCB1, and CD36 Polymorphisms Associated with Coenzyme Q10 Availability Affect the Subjective Quality of Life Score (SF-36) after Long-Term CoQ10 Supplementation in Women.

Nutrients
Takahashi, Michiyo M; Kinoshita, Tetsu T; Maruyama, Koutatsu K; Suzuki, Toshikazu T
Publication Date: 2022-06-22

Variant appearance in text: rs2072183
PubMed Link: 35807759
Variant Present in the following documents:
  • Main text
  • nutrients-14-02579.pdf
View BVdb publication page



Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: rs2072183
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
View BVdb publication page



The NPC1L1 Gene Exerts a Notable Impact on the Reduction of Low-Density Lipoprotein Cholesterol in Response to Hyzetimibe: A Factorial-Designed Clinical Trial.

Frontiers In Pharmacology
Liao, Jianwei J; Yang, Liyun L; Zhou, Luping L; Zhao, Hongbin H; Qi, Xiao X; Cui, Yimin Y; Ouyang, Dongsheng D
Publication Date: 2022

Variant appearance in text: rs2072183
PubMed Link: 35359877
Variant Present in the following documents:
  • Main text
  • fphar-13-755469.pdf
View BVdb publication page



Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease.

Frontiers In Cardiovascular Medicine
Zhao, Xueyan X; Xu, Jingjing J; Tang, Xiaofang X; Huang, Keyong K; Li, Jiawen J; Liu, Ru R; Jiang, Lin L; Zhang, Yin Y; Wang, Dong D; Sun, Kai K; Xu, Bo B; Zhao, Wei W; Hui, Rutai R; Gao, Runlin R; Song, Lei L; Yuan, Jinqing J
Publication Date: 2021

Variant appearance in text: rs2072183
PubMed Link: 34926596
Variant Present in the following documents:
  • Main text
  • fcvm-08-704501.pdf
View BVdb publication page



Associations between SNPs in Intestinal Cholesterol Absorption and Endogenous Cholesterol Synthesis Genes with Cholesterol Metabolism.

Biomedicines
Schroor, Maite M MM; Mokhtar, Fatma B A FBA; Plat, Jogchum J; Mensink, Ronald P RP
Publication Date: 2021-10-14

Variant appearance in text: rs2072183
PubMed Link: 34680591
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01475.pdf
View BVdb publication page



A genetic sum score of effect alleles associated with serum lipid concentrations interacts with educational attainment.

Scientific Reports
Emmel, Carina C; Frank, Mirjam M; Dragano, Nico N; Nöthen, Markus M MM; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Schmidt, Börge B
Publication Date: 2021-08-16

Variant appearance in text: rs2072183
PubMed Link: 34400708
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95970.pdf
View BVdb publication page



A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.

Nature Communications
Jhun, Min-A MA; Mendelson, Michael M; Wilson, Rory R; Gondalia, Rahul R; Joehanes, Roby R; Salfati, Elias E; Zhao, Xiaoping X; Braun, Kim Valeska Emilie KVE; Do, Anh Nguyet AN; Hedman, Åsa K ÅK; Zhang, Tao T; Carnero-Montoro, Elena E; Shen, Jincheng J; Bartz, Traci M TM; Brody, Jennifer A JA; Montasser, May E ME; O'Connell, Jeff R JR; Yao, Chen C; Xia, Rui R; Boerwinkle, Eric E; Grove, Megan M; Guan, Weihua W; Liliane, Pfeiffer P; Singmann, Paula P; Müller-Nurasyid, Martina M; Meitinger, Thomas T; Gieger, Christian C; Peters, Annette A; Zhao, Wei W; Ware, Erin B EB; Smith, Jennifer A JA; Dhana, Klodian K; van Meurs, Joyce J; Uitterlinden, Andre A; Ikram, Mohammad Arfan MA; Ghanbari, Mohsen M; Zhi, Deugi D; Gustafsson, Stefan S; Lind, Lars L; Li, Shengxu S; Sun, Dianjianyi D; Spector, Tim D TD; Chen, Yii-der Ida YI; Damcott, Coleen C; Shuldiner, Alan R AR; Absher, Devin M DM; Horvath, Steve S; Tsao, Philip S PS; Kardia, Sharon S; Psaty, Bruce M BM; Sotoodehnia, Nona N; Bell, Jordana T JT; Ingelsson, Erik E; Chen, Wei W; Dehghan, Abbas A; Arnett, Donna K DK; Waldenberger, Melanie M; Hou, Lifang L; Whitsel, Eric A EA; Baccarelli, Andrea A; Levy, Daniel D; Fornage, Myriam M; Irvin, Marguerite R MR; Assimes, Themistocles L TL
Publication Date: 2021-06-28

Variant appearance in text: rs2072183
PubMed Link: 34183656
Variant Present in the following documents:
  • 41467_2021_23899_MOESM1_ESM.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: NPC1L1: 816C>G; rs2072183
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



CYP7A1, NPC1L1, ABCB1, and CD36 Polymorphisms Are Associated with Increased Serum Coenzyme Q10 after Long-Term Supplementation in Women.

Antioxidants (Basel, Switzerland)
Takahashi, Michiyo M; Nagata, Mayumi M; Kinoshita, Tetsu T; Kaneko, Takehiko T; Suzuki, Toshikazu T
Publication Date: 2021-03-11

Variant appearance in text: rs2072183
PubMed Link: 33799730
Variant Present in the following documents:
  • Main text
  • antioxidants-10-00431.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 33791233
Variant Present in the following documents:
View BVdb publication page



Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Nutrients
Abdullah, Mohammad M H MMH; Vazquez-Vidal, Itzel I; Baer, David J DJ; House, James D JD; Jones, Peter J H PJH; Desmarchelier, Charles C
Publication Date: 2021-02-22

Variant appearance in text: N/A
PubMed Link: 33671529
Variant Present in the following documents:
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: N/A
PubMed Link: 33503336
Variant Present in the following documents:
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs2072183
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



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: rs2072183
PubMed Link: 32839606
Variant Present in the following documents:
  • Main text
  • nihms-1609187.pdf
View BVdb publication page



Epigenome-wide association study reveals a molecular signature of response to phylloquinone (vitamin K1) supplementation.

Epigenetics
Westerman, Kenneth K; Kelly, Jennifer M JM; Ordovás, José M JM; Booth, Sarah L SL; DeMeo, Dawn L DL
Publication Date: 2020-08

Variant appearance in text: rs2072183
PubMed Link: 32090699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: NPC1L1: 816C>G; rs2072183
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: NPC1L1: 816C>G
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Improving the odds of drug development success through human genomics: modelling study.

Scientific Reports
Hingorani, Aroon D AD; Kuan, Valerie V; Finan, Chris C; Kruger, Felix A FA; Gaulton, Anna A; Chopade, Sandesh S; Sofat, Reecha R; MacAllister, Raymond J RJ; Overington, John P JP; Hemingway, Harry H; Denaxas, Spiros S; Prieto, David D; Casas, Juan Pablo JP
Publication Date: 2019-12-11

Variant appearance in text: rs2072183
PubMed Link: 31827124
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_54849.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: NPC1L1: 816C>G; rs2072183
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



The Contribution of Lipids to the Interindividual Response of Vitamin K Biomarkers to Vitamin K Supplementation.

Molecular Nutrition & Food Research
Kelly, Jennifer M JM; Ordovas, Jose M JM; Matuszek, Gregory G; Smith, Caren E CE; Huggins, Gordon S GS; Dashti, Hassan S HS; Ichikawa, Reiko R; Booth, Sarah L SL
Publication Date: 2019-12

Variant appearance in text: rs2072183
PubMed Link: 31533195
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Niemann-Pick C1-like 1 rs2073547 polymorphism is associated with type 2 diabetes mellitus in a Chinese population.

The Journal Of International Medical Research
Huang, Zhenxing Z; Tan, Ruyin R; Meng, Liheng L; Yang, Haiyan H; Liang, Xinghuan X; Qin, Yingfen Y; Luo, Zuojie Z
Publication Date: 2019-09

Variant appearance in text: rs2072183
PubMed Link: 31311377
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs2072183
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
View BVdb publication page



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: NPC1L1: 816C>G; rs2072183
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs2072183
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
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: rs2072183
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: NPC1L1: 816C>G; rs2072183
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Exploring the Valuable Carotenoids for the Large-Scale Production by Marine Microorganisms.

Marine Drugs
Torregrosa-Crespo, Javier J; Montero, Zaida Z; Fuentes, Juan Luis JL; Reig García-Galbis, Manuel M; Garbayo, Inés I; Vílchez, Carlos C; Martínez-Espinosa, Rosa María RM
Publication Date: 2018-06-08

Variant appearance in text: NPC1L1: L272L
PubMed Link: 29890662
Variant Present in the following documents:
  • Main text
  • marinedrugs-16-00203.pdf
View BVdb publication page



Interindividual Variability in Biomarkers of Cardiometabolic Health after Consumption of Major Plant-Food Bioactive Compounds and the Determinants Involved.

Advances In Nutrition (Bethesda, Md.)
Milenkovic, Dragan D; Morand, Christine C; Cassidy, Aedin A; Konic-Ristic, Aleksandra A; Tomás-Barberán, Francisco F; Ordovas, José M JM; Kroon, Paul P; De Caterina, Raffaele R; Rodriguez-Mateos, Ana A
Publication Date: 2017-07

Variant appearance in text: NPC1L1: L272L
PubMed Link: 28710143
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2072183
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs2072183
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
View BVdb publication page



Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

Arteriosclerosis, Thrombosis, And Vascular Biology
Pankow, James S JS; Tang, Weihong W; Pankratz, Nathan N; Guan, Weihua W; Weng, Lu-Chen LC; Cushman, Mary M; Boerwinkle, Eric E; Folsom, Aaron R AR
Publication Date: 2017-03

Variant appearance in text: rs2072183
PubMed Link: 28082259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment.

Pharmacogenomics
Smit, Roelof Aj RA; Postmus, Iris I; Trompet, Stella S; Barnes, Michael R MR; Warren, Helen H; Arsenault, Benoit J BJ; Chasman, Daniel I DI; Cupples, L Adrienne LA; Hitman, Graham A GA; Krauss, Ronald M RM; Li, Xiaohui X; Psaty, Bruce M BM; Stein, Charles M CM; Rotter, Jerome I JI; Jukema, J Wouter JW
Publication Date: 2016-10

Variant appearance in text: rs2072183
PubMed Link: 27648687
Variant Present in the following documents:
  • Main text
View BVdb publication page



The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients.

Plos One
Wu, Jian J; Cui, Wei W; Cai, Qu Q; Fei, Jian J; Zhang, Sheng-Dao SD; Han, Tian-Quan TQ; Hu, Hai H; Jiang, Zhao-Yan ZY
Publication Date: 2016

Variant appearance in text: rs2072183
PubMed Link: 26800364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W
Publication Date: 2015-12-22

Variant appearance in text: rs2072183
PubMed Link: 26690388
Variant Present in the following documents:
  • ncomms10206-s1.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O
Publication Date: 2015-08-10

Variant appearance in text: rs2072183
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs2072183
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



β-Cryptoxanthin modulates the response to phytosterols in post-menopausal women carrying NPC1L1 L272L and ABCG8 A632 V polymorphisms: an exploratory study.

Genes & Nutrition
Granado-Lorencio, F F; de Las Heras, L L; Millán, C San CS; Garcia-López, F J FJ; Blanco-Navarro, I I; Pérez-Sacristán, B B; Domínguez, G G
Publication Date: 2014-09

Variant appearance in text: N/A
PubMed Link: 25163590
Variant Present in the following documents:
View BVdb publication page



Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study.

Plos Genetics
Varga, Tibor V TV; Sonestedt, Emily E; Shungin, Dmitry D; Koivula, Robert W RW; Hallmans, Göran G; Escher, Stefan A SA; Barroso, Inês I; Nilsson, Peter P; Melander, Olle O; Orho-Melander, Marju M; Renström, Frida F; Franks, Paul W PW
Publication Date: 2014-06

Variant appearance in text: rs2072183
PubMed Link: 24922540
Variant Present in the following documents:
  • Main text
  • pgen.1004388.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: rs2072183
PubMed Link: 24648913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.

The Application Of Clinical Genetics
Sayols-Baixeras, Sergi S; Lluís-Ganella, Carla C; Lucas, Gavin G; Elosua, Roberto R
Publication Date: 2014

Variant appearance in text: rs2072183
PubMed Link: 24520200
Variant Present in the following documents:
  • Main text
View BVdb publication page



LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04

Variant appearance in text: rs2072183
PubMed Link: 24503134
Variant Present in the following documents:
  • supp_D045963_jlr.D045963-1.pdf
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: N/A
PubMed Link: 24219164
Variant Present in the following documents:
View BVdb publication page



Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol.

Journal Of Lipid Research
Kim, Daniel S DS; Burt, Amber A AA; Ranchalis, Jane E JE; Jarvik, Ella R ER; Rosenthal, Elisabeth A EA; Hatsukami, Thomas S TS; Furlong, Clement E CE; Jarvik, Gail P GP
Publication Date: 2013-05

Variant appearance in text: rs2072183
PubMed Link: 23482652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment.

Lipids In Health And Disease
Pisciotta, Livia L; Bellocchio, Antonella A; Bertolini, Stefano S
Publication Date: 2012-09-22

Variant appearance in text: NPC1L1: 816C>G; L272L
PubMed Link: 22998978
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
Lucas, Gavin G; Lluís-Ganella, Carla C; Subirana, Isaac I; Musameh, Muntaser D MD; Gonzalez, Juan Ramon JR; Nelson, Christopher P CP; Sentí, Mariano M; , ; , ; Schwartz, Stephen M SM; Siscovick, David D; O'Donnell, Christopher J CJ; Melander, Olle O; Salomaa, Veikko V; Purcell, Shaun S; Altshuler, David D; Samani, Nilesh J NJ; Kathiresan, Sekar S; Elosua, Roberto R
Publication Date: 2012

Variant appearance in text: rs2072183
PubMed Link: 22876292
Variant Present in the following documents:
  • Main text
  • pone.0041730.pdf
  • pone.0041730.s001.pdf
View BVdb publication page



Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations.

Lipids In Health And Disease
Miao, Lin L; Yin, Rui-Xing RX; Hu, Xi-Jiang XJ; Wu, Dong-Feng DF; Cao, Xiao-Li XL; Li, Qing Q; Yan, Ting-Ting TT; Aung, Lynn Htet Htet LH; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX
Publication Date: 2012-05-30

Variant appearance in text: N/A
PubMed Link: 22646906
Variant Present in the following documents:
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: N/A
PubMed Link: 21862702
Variant Present in the following documents:
View BVdb publication page



Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs2072183
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics.

Journal Of Lipid Research
Dong, Chuanhui C; Beecham, Ashley A; Wang, Liyong L; Slifer, Susan S; Wright, Clinton B CB; Blanton, Susan H SH; Rundek, Tatjana T; Sacco, Ralph L RL
Publication Date: 2011-07

Variant appearance in text: rs2072183
PubMed Link: 21558551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phytosterols and phytosterolemia: gene-diet interactions.

Genes & Nutrition
Izar, Maria C MC; Tegani, Daniela M DM; Kasmas, Soraia H SH; Fonseca, Francisco A FA
Publication Date: 2011-02

Variant appearance in text: N/A
PubMed Link: 21437027
Variant Present in the following documents:
View BVdb publication page



Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.

The Journal Of Biological Chemistry
Wang, Li-Juan LJ; Wang, Jing J; Li, Na N; Ge, Liang L; Li, Bo-Liang BL; Song, Bao-Liang BL
Publication Date: 2011-03-04

Variant appearance in text: NPC1L1: L272L
PubMed Link: 21189420
Variant Present in the following documents:
  • Main text
View BVdb publication page