HMGCR c.1722+45A>G

Variant ID: 5-74651084-A-G

NM_000859.2(HMGCR):c.1722+45A>G

This variant was identified in 118 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3846662
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: HMGCR: 1722+45A>G; rs3846662
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Statins and cognition: Modifying factors and possible underlying mechanisms.

Frontiers In Aging Neuroscience
Jamshidnejad-Tosaramandani, Tahereh T; Kashanian, Soheila S; Al-Sabri, Mohamed H MH; Kročianová, Daniela D; Clemensson, Laura E LE; Gentreau, Mélissa M; Schiöth, Helgi B HB
Publication Date: 2022

Variant appearance in text: rs3846662
PubMed Link: 36046494
Variant Present in the following documents:
  • Main text
  • fnagi-14-968039.pdf
View BVdb publication page



A Possible Role for HMG-CoA Reductase Inhibitors and Its Association with HMGCR Genetic Variation in Parkinson's Disease.

International Journal Of Molecular Sciences
Pierzchlińska, Anna A; Droździk, Marek M; Białecka, Monika M
Publication Date: 2021-11-11

Variant appearance in text: rs3846662
PubMed Link: 34830081
Variant Present in the following documents:
  • Main text
  • ijms-22-12198.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: rs3846662
PubMed Link: 34680591
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01475.pdf
View BVdb publication page



Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population.

Pharmacogenomics And Personalized Medicine
Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Ding, Heng H; Chen, Wanlu W; Dai, Run R; Zhang, Chan C
Publication Date: 2021

Variant appearance in text: rs3846662
PubMed Link: 34629888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: rs3846662
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



A compendium of uniformly processed human gene expression and splicing quantitative trait loci.

Nature Genetics
Kerimov, Nurlan N; Hayhurst, James D JD; Peikova, Kateryna K; Manning, Jonathan R JR; Walter, Peter P; Kolberg, Liis L; Samoviča, Marija M; Sakthivel, Manoj Pandian MP; Kuzmin, Ivan I; Trevanion, Stephen J SJ; Burdett, Tony T; Jupp, Simon S; Parkinson, Helen H; Papatheodorou, Irene I; Yates, Andrew D AD; Zerbino, Daniel R DR; Alasoo, Kaur K
Publication Date: 2021-09

Variant appearance in text: rs3846662
PubMed Link: 34493866
Variant Present in the following documents:
  • Main text
  • 41588_2021_Article_924.pdf
View BVdb publication page



A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia

Iranian Biomedical Journal
Ahangari, Najmeh N; Sahebkar, Amirhossein A; Azimi-Nezhad, Mohsen M; Ghazizadeh, Hamideh H; Moohebati, Mohsen M; Ebrahim, Mahmoud M; Esmaeili, Habibollah H; Ferns, Gordon A GA; Pasdar, Alireza A; Ghayour Mobarhan, Majid M
Publication Date: 2021-09-01

Variant appearance in text: rs3846662
PubMed Link: 34425670
Variant Present in the following documents:
  • Main text
  • ibj-25-374.pdf
View BVdb publication page



Open science datasets from PREVENT-AD, a longitudinal cohort of pre-symptomatic Alzheimer's disease.

Neuroimage. Clinical
Tremblay-Mercier, Jennifer J; Madjar, Cécile C; Das, Samir S; Pichet Binette, Alexa A; Dyke, Stephanie O M SOM; Étienne, Pierre P; Lafaille-Magnan, Marie-Elyse ME; Remz, Jordana J; Bellec, Pierre P; Louis Collins, D D; Natasha Rajah, M M; Bohbot, Veronique V; Leoutsakos, Jeannie-Marie JM; Iturria-Medina, Yasser Y; Kat, Justin J; Hoge, Richard D RD; Gauthier, Serge S; Tardif, Christine L CL; Mallar Chakravarty, M M; Poline, Jean-Baptiste JB; Rosa-Neto, Pedro P; Evans, Alan C AC; Villeneuve, Sylvia S; Poirier, Judes J; Breitner, John C S JCS; ,
Publication Date: 2021

Variant appearance in text: rs3846662
PubMed Link: 34192666
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Abnormal brain cholesterol homeostasis in Alzheimer's disease-a targeted metabolomic and transcriptomic study.

Npj Aging And Mechanisms Of Disease
Varma, Vijay R VR; Büşra Lüleci, H H; Oommen, Anup M AM; Varma, Sudhir S; Blackshear, Chad T CT; Griswold, Michael E ME; An, Yang Y; Roberts, Jackson A JA; O'Brien, Richard R; Pletnikova, Olga O; Troncoso, Juan C JC; Bennett, David A DA; Çakır, Tunahan T; Legido-Quigley, Cristina C; Thambisetty, Madhav M
Publication Date: 2021-06-01

Variant appearance in text: rs3846662
PubMed Link: 34075056
Variant Present in the following documents:
  • Main text
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: HMGCR: 1722+45A>G; rs3846662
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Arterial Blood Pressure Variability and Other Vascular Factors Contribution to the Cognitive Decline in Parkinson's Disease.

Molecules (Basel, Switzerland)
Pierzchlińska, Anna A; Kwaśniak-Butowska, Magdalena M; Sławek, Jarosław J; Droździk, Marek M; Białecka, Monika M
Publication Date: 2021-03-10

Variant appearance in text: rs3846662
PubMed Link: 33802165
Variant Present in the following documents:
  • Main text
  • molecules-26-01523.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: rs3846662
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Hypoxia-Ischemia Induced Age-Dependent Gene Transcription Effects at Two Development Stages in the Neonate Mouse Brain.

Frontiers In Molecular Neuroscience
Dupré, Nicolas N; Derambure, Céline C; Le Dieu-Lugon, Bérénice B; Hauchecorne, Michelle M; Detroussel, Yannick Y; Gonzalez, Bruno J BJ; Marret, Stéphane S; Leroux, Philippe P
Publication Date: 2020

Variant appearance in text: rs3846662
PubMed Link: 33343297
Variant Present in the following documents:
  • fnmol-13-587815.pdf
View BVdb publication page



Preservation of neurons in an AD 79 vitrified human brain.

Plos One
Petrone, Pierpaolo P; Giordano, Guido G; Vezzoli, Elena E; Pensa, Alessandra A; Castaldo, Giuseppe G; Graziano, Vincenzo V; Sirano, Francesco F; Capasso, Emanuele E; Quaremba, Giuseppe G; Vona, Alessandro A; Miano, Maria Giuseppina MG; Savino, Sergio S; Niola, Massimo M
Publication Date: 2020

Variant appearance in text: rs3846662
PubMed Link: 33022024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020

Variant appearance in text: rs3846662
PubMed Link: 32765042
Variant Present in the following documents:
  • Main text
  • pgpm-13-199.pdf
View BVdb publication page



Mitochondrial pathways in human health and aging.

Mitochondrion
Bornstein, Rebecca R; Gonzalez, Brenda B; Johnson, Simon C SC
Publication Date: 2020-09

Variant appearance in text: rs3846662
PubMed Link: 32738358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalised medicine in hypercholesterolaemia: the role of pharmacogenetics in statin therapy.

Annals Of Medicine
Ahangari, Najmeh N; Doosti, Mohammad M; Ghayour Mobarhan, Majid M; Sahebkar, Amirhossein A; Ferns, Gordon A GA; Pasdar, Alireza A
Publication Date: 2020-12

Variant appearance in text: rs3846662
PubMed Link: 32735150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs3846662
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

International Journal Of Molecular Sciences
Bagyinszky, Eva E; Giau, Vo Van VV; An, SeongSoo A SA
Publication Date: 2020-05-15

Variant appearance in text: rs3846662
PubMed Link: 32429229
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.

Molecular Genetics & Genomic Medicine
Cheng, Yujing Y; Dai, Run R; Chen, Wanlu W; Li, Qi Q; Zhang, Chan C; Yang, Tonghua T
Publication Date: 2020-07

Variant appearance in text: rs3846662
PubMed Link: 32347657
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine
Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N
Publication Date: 2020-03

Variant appearance in text: rs3846662
PubMed Link: 32125935
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: HMGCR: 1722+45A>G; rs3846662
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020-01-06

Variant appearance in text: rs3846662
PubMed Link: 31935801
Variant Present in the following documents:
  • Main text
  • jpm-10-00002.pdf
View BVdb publication page



Therapeutic targets of hypercholesterolemia: HMGCR and LDLR.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Ma, Shizhan S; Sun, Wenxiu W; Gao, Ling L; Liu, Shudong S
Publication Date: 2019

Variant appearance in text: rs3846662
PubMed Link: 31686875
Variant Present in the following documents:
  • Main text
  • dmso-12-1543.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: rs3846662
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs3846662
PubMed Link: 31551420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer's disease: A genetic and proteomic multi-cohort study.

Plos One
Picard, Cynthia C; Poirier, Alexandre A; Bélanger, Stéphanie S; Labonté, Anne A; Auld, Daniel D; Poirier, Judes J; ,
Publication Date: 2019

Variant appearance in text: rs3846662
PubMed Link: 31437157
Variant Present in the following documents:
  • Main text
  • pone.0220254.pdf
View BVdb publication page



Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China.

Molecular Genetics & Genomic Medicine
Chen, Wanlu W; Ding, Heng H; Cheng, Yujing Y; Li, Qi Q; Dai, Run R; Yang, Xin X; Zhang, Chan C
Publication Date: 2019-09

Variant appearance in text: rs3846662
PubMed Link: 31361092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Significant association of 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) rs3846662 and sirtuin 1 (SIRT1) rs7895833 and apolipoprotein E (APOE) hypermethylation with mild cognitive impairment (MCI).

Medicine
Zou, Ting T; Duan, Yali Y; Zhou, Xiaohui X; Chen, Wei W; Ying, Xiuru X; Liu, Guili G; Zhao, Yongjie Y; Zhu, Meisheng M; Pari, Abuliz A; Alimu, Kader K; Miao, Haijun H; Kabinur, Keyim K; Zhang, Lei L; Wang, Qinwen Q; Duan, Shiwei S
Publication Date: 2019-07

Variant appearance in text: rs3846662
PubMed Link: 31305452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pragmatic Analysis of Dyslipidemia Involvement in Coronary Artery Disease: A Narrative Review.

Current Cardiology Reviews
Mihăilă, Romeo-Gabriel RG
Publication Date: 2020

Variant appearance in text: rs3846662
PubMed Link: 31113345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association study of rs3846662 with Alzheimer's disease in a population-based cohort: the Cache County Study.

Neurobiology Of Aging
Wright, Sage M SM; Jensen, Samantha L SL; Cockriel, Kristen L KL; Davis, Brian B; Tschanz, JoAnn T JT; Munger, Ronald G RG; Corcoran, Christopher D CD; Kauwe, John S K JSK
Publication Date: 2019-12

Variant appearance in text: rs3846662
PubMed Link: 30975575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Children Are Not Small Adults: Specific Findings in Statin Exposure and Response in a Growing Population.

Clinical Pharmacology And Therapeutics
Wagner, Jonathan B JB
Publication Date: 2019-08

Variant appearance in text: rs3846662
PubMed Link: 30970165
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine
Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W
Publication Date: 2019-05

Variant appearance in text: rs3846662
PubMed Link: 30955239
Variant Present in the following documents:
  • Main text
  • MGG3-7-e574.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3846662
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Genetic effects on promoter usage are highly context-specific and contribute to complex traits.

Elife
Alasoo, Kaur K; Rodrigues, Julia J; Danesh, John J; Freitag, Daniel F DF; Paul, Dirk S DS; Gaffney, Daniel J DJ
Publication Date: 2019-01-08

Variant appearance in text: rs3846662
PubMed Link: 30618377
Variant Present in the following documents:
  • Main text
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: HMGCR: 1722+45A>G; rs3846662
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.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: rs3846662
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine
Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: rs3846662
PubMed Link: 30235667
Variant Present in the following documents:
  • medi-97-e12231.pdf
View BVdb publication page



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: rs3846662
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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: rs3846662
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 7
View BVdb publication page



Influence of 6 genetic variants on the efficacy of statins in patients with dyslipidemia.

Journal Of Clinical Laboratory Analysis
Cano-Corres, Ruth R; Candás-Estébanez, Beatriz B; Padró-Miquel, Ariadna A; Fanlo-Maresma, Marta M; Pintó, Xavier X; Alía-Ramos, Pedro P
Publication Date: 2018-10

Variant appearance in text: rs3846662
PubMed Link: 29732606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations.

Plos One
Jmel, Haifa H; Romdhane, Lilia L; Ben Halima, Yosra Y; Hechmi, Meriem M; Naouali, Chokri C; Dallali, Hamza H; Hamdi, Yosr Y; Shan, Jingxuan J; Abid, Abdelmajid A; Jamoussi, Henda H; Trabelsi, Sameh S; Chouchane, Lotfi L; Luiselli, Donata D; Abdelhak, Sonia S; Kefi, Rym R
Publication Date: 2018

Variant appearance in text: rs3846662
PubMed Link: 29652911
Variant Present in the following documents:
  • Main text
  • pone.0194842.pdf
View BVdb publication page



Pharmacogenetics of Vascular Risk Factors in Alzheimer's Disease.

Journal Of Personalized Medicine
Cacabelos, Ramón R; Meyyazhagan, Arun A; Carril, Juan C JC; Cacabelos, Pablo P; Teijido, Óscar Ó
Publication Date: 2018-01-03

Variant appearance in text: rs3846662
PubMed Link: 29301387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population.

International Journal Of Molecular Sciences
Angelini, Sabrina S; Rosticci, Martina M; Massimo, Gianmichele G; Musti, Muriel M; Ravegnini, Gloria G; Consolini, Nicola N; Sammarini, Giulia G; D'Addato, Sergio S; Rizzoli, Elisabetta E; Botbayev, Dauren D; Borghi, Claudio C; Cantelli-Forti, Giorgio G; Cicero, Arrigo F AF; Hrelia, Patrizia P
Publication Date: 2017-12-24

Variant appearance in text: rs3846662
PubMed Link: 29295555
Variant Present in the following documents:
  • Main text
  • ijms-19-00049.pdf
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Data to genetic risk assessment on high-density cholesterol level associated polymorphisms in Hungarian general and Roma populations.

Data In Brief
Pikó, Péter P; Fiatal, Szilvia S; Kósa, Zsigmond Z; Sándor, János J; Ádány, Róza R
Publication Date: 2017-10

Variant appearance in text: rs3846662
PubMed Link: 28795114
Variant Present in the following documents:
  • Main text
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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: rs3846662
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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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: rs3846662
PubMed Link: 28577571
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: rs3846662
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
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Recent publications from the Alzheimer's Disease Neuroimaging Initiative: Reviewing progress toward improved AD clinical trials.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Weiner, Michael W MW; Veitch, Dallas P DP; Aisen, Paul S PS; Beckett, Laurel A LA; Cairns, Nigel J NJ; Green, Robert C RC; Harvey, Danielle D; Jack, Clifford R CR; Jagust, William W; Morris, John C JC; Petersen, Ronald C RC; Saykin, Andrew J AJ; Shaw, Leslie M LM; Toga, Arthur W AW; Trojanowski, John Q JQ; ,
Publication Date: 2017-04

Variant appearance in text: rs3846662
PubMed Link: 28342697
Variant Present in the following documents:
  • Main text
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Extending the use of GWAS data by combining data from different genetic platforms.

Plos One
van Iperen, E P A EP; Hovingh, G K GK; Asselbergs, F W FW; Zwinderman, A H AH
Publication Date: 2017

Variant appearance in text: rs3846662
PubMed Link: 28245255
Variant Present in the following documents:
  • Main text
  • pone.0172082.pdf
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Evidence for benefit of statins to modify cognitive decline and risk in Alzheimer's disease.

Alzheimer'S Research & Therapy
Geifman, Nophar N; Brinton, Roberta Diaz RD; Kennedy, Richard E RE; Schneider, Lon S LS; Butte, Atul J AJ
Publication Date: 2017-02-17

Variant appearance in text: rs3846662
PubMed Link: 28212683
Variant Present in the following documents:
  • Main text
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The roles of RNA processing in translating genotype to phenotype.

Nature Reviews. Molecular Cell Biology
Manning, Kassie S KS; Cooper, Thomas A TA
Publication Date: 2017-02

Variant appearance in text: rs3846662
PubMed Link: 27847391
Variant Present in the following documents:
  • Main text
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