ABCA1 c.2311G>A ;(p.V771M)

Variant ID: 9-107589255-C-T

NM_005502.3(ABCA1):c.2311G>A;(p.V771M)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ABCA1: V771M
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2066718
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Frontiers In Aging Neuroscience
Rossi, Giacomina G; Salvi, Erika E; Mehmeti, Elkadia E; Ricci, Martina M; Villa, Cristina C; Prioni, Sara S; Moda, Fabio F; Di Fede, Giuseppe G; Tiraboschi, Pietro P; Redaelli, Veronica V; Coppola, Cinzia C; Koch, Giacomo G; Canu, Elisa E; Filippi, Massimo M; Agosta, Federica F; Giaccone, Giorgio G; Caroppo, Paola P
Publication Date: 2022

Variant appearance in text: ABCA1: V771M
PubMed Link: 36570531
Variant Present in the following documents:
  • Main text
  • fnagi-14-1085406.pdf
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: ABCA1: V771M
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs2066718
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Role of ABCA1 in Cardiovascular Disease.

Journal Of Personalized Medicine
Wang, Jing J; Xiao, Qianqian Q; Wang, Luyun L; Wang, Yan Y; Wang, Daowen D; Ding, Hu H
Publication Date: 2022-06-20

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 35743794
Variant Present in the following documents:
  • Main text
  • jpm-12-01010.pdf
View BVdb publication page



Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: ABCA1: Val771Met; rs2066718
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
View BVdb publication page



Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.

Free Neuropathology
Pahnke, Jens J; Bascuñana, Pablo P; Brackhan, Mirjam M; Stefan, Katja K; Namasivayam, Vigneshwaran V; Koldamova, Radosveta R; Wu, Jingyun J; Möhle, Luisa L; Stefan, Sven Marcel SM
Publication Date: 2021

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 34977908
Variant Present in the following documents:
  • Main text
  • nihms-1763985.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs2066718
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
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: ABCA1: V771M; rs2066718
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 12
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



The R219K Polymorphism of the ATP Binding Cassette Subfamily a Member 1 Gene and Susceptibility to Ischemic Stroke in Chinese Population.

Open Medicine (Warsaw, Poland)
Li, Jianmin J; Wen, Ming M; Zhang, Zhiping Z; Qiu, Zhihua Z; Sun, Yiming Y
Publication Date: 2020

Variant appearance in text: ABCA1: V771M
PubMed Link: 32292824
Variant Present in the following documents:
  • med-15-274.pdf
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: ABCA1: 2311G>A; Val771Met
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: ABCA1: V771M
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: ABCA1: Val771Met; rs2066718
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
  • MGG3-7-e931.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Logic Regression Analysis of Gene Polymorphisms and HDL Levels in a Nationally Representative Sample of Iranian Adolescents: The CASPIAN-III Study.

International Journal Of Endocrinology And Metabolism
Moghadasi, Mehri M; Kelishadi, Roya R; Marateb, Hamid Reza HR; Haghjooy Javanmard, Shaghayegh S; Mansourian, Marjan M; Heshmat, Ramin R; Esmaeil Motlagh, Mohammad M
Publication Date: 2017-07

Variant appearance in text: rs2066718
PubMed Link: 30805016
Variant Present in the following documents:
  • Main text
  • ijem-15-03-14037.pdf
View BVdb publication page



ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine
López-Fernández, Luis A LA
Publication Date: 2018-12-05

Variant appearance in text: ABCA1: 2311G>A; Val771Met; rs2066718
PubMed Link: 30563187
Variant Present in the following documents:
  • jpm-08-00040-s001.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: ABCA1: V771M
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.

Computational And Structural Biotechnology Journal
Marateb, Hamid R HR; Mohebian, Mohammad Reza MR; Javanmard, Shaghayegh Haghjooy SH; Tavallaei, Amir Ali AA; Tajadini, Mohammad Hasan MH; Heidari-Beni, Motahar M; Mañanas, Miguel Angel MA; Motlagh, Mohammad Esmaeil ME; Heshmat, Ramin R; Mansourian, Marjan M; Kelishadi, Roya R
Publication Date: 2018

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 30026888
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.

Plos One
Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A
Publication Date: 2016

Variant appearance in text: rs2066718
PubMed Link: 27992526
Variant Present in the following documents:
  • Main text
  • pone.0168423.pdf
View BVdb publication page



Diagnosis and treatment of high density lipoprotein deficiency.

Progress In Cardiovascular Diseases
Schaefer, Ernst J EJ; Anthanont, Pimjai P; Diffenderfer, Margaret R MR; Polisecki, Eliana E; Asztalos, Bela F BF
Publication Date: 2016

Variant appearance in text: ABCA1: V771M
PubMed Link: 27565770
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2066718
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCA1: V771M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: ABCA1: V771M; rs2066718
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The power comparison of the haplotype-based collapsing tests and the variant-based collapsing tests for detecting rare variants in pedigrees.

Bmc Genomics
Guo, Wei W; Shugart, Yin Yao YY
Publication Date: 2014-07-28

Variant appearance in text: ABCA1: V771M
PubMed Link: 25070353
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6334.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
Publication Date: 2014-01

Variant appearance in text: rs2066718
PubMed Link: 24497850
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of ATP-binding cassette transporter 1 R219K and M883I polymorphisms on development of atherosclerosis: a meta-analysis of 58 studies.

Plos One
Yin, Yan-Wei YW; Li, Jing-Cheng JC; Gao, Dong D; Chen, Yan-Xiu YX; Li, Bing-Hu BH; Wang, Jing-Zhou JZ; Liu, Yun Y; Liao, Shao-Qiong SQ; Zhang, Ming-Jie MJ; Gao, Chang-Yue CY; Zhang, Li-Li LL
Publication Date: 2014

Variant appearance in text: ABCA1: V771M
PubMed Link: 24466114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.

Plos One
Nakamura, Akihiko A; Niimura, Hideshi H; Kuwabara, Kazuyo K; Takezaki, Toshiro T; Morita, Emi E; Wakai, Kenji K; Hamajima, Nobuyuki N; Nishida, Yuichiro Y; Turin, Tanvir Chowdhury TC; Suzuki, Sadao S; Ohnaka, Keizo K; Uemura, Hirokazu H; Ozaki, Etsuko E; Hosono, Satoyo S; Mikami, Haruo H; Kubo, Michiaki M; Tanaka, Hideo H
Publication Date: 2013

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 24376512
Variant Present in the following documents:
  • Main text
  • pone.0082046.pdf
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Publication Date: 2013

Variant appearance in text: ABCA1: 2311G>A; Val771Met; rs2066718
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s012.xlsx, sheet 1
  • peerj-01-177-s011.xlsx, sheet 1
  • peerj-01-177-s013.xlsx, sheet 1
View BVdb publication page



ABC transporter genes and risk of type 2 diabetes: a study of 40,000 individuals from the general population.

Diabetes Care
Schou, Jesper J; Tybjærg-Hansen, Anne A; Møller, Holger J HJ; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R
Publication Date: 2012-12

Variant appearance in text: ABCA1: 2311G>A; V771M; rs2066718
PubMed Link: 23139370
Variant Present in the following documents:
  • supp_dc12-0082v120082_DC120082SupplementaryData.pdf
View BVdb publication page



Investigation of ABCA1 C69T polymorphism in patients with type 2 diabetes mellitus.

Biochemia Medica
Ergen, H Arzu HA; Zeybek, Umit U; Gök, Ozlem O; Karaali, Z Ermis ZE
Publication Date: 2012

Variant appearance in text: ABCA1: V771M
PubMed Link: 22384526
Variant Present in the following documents:
  • Main text
  • biochem-med-22-1-114-13.pdf
View BVdb publication page



Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology
Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,
Publication Date: 2011

Variant appearance in text: ABCA1: Val771Met; rs2066718
PubMed Link: 21467728
Variant Present in the following documents:
  • Main text
  • je-21-223.pdf
View BVdb publication page



A survey of ABCA1 sequence variation confirms association with dementia.

Human Mutation
Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Bennet, Anna M AM; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Wiklund, Fredrik F; Gatz, Margaret M; Pedersen, Nancy L NL; Prince, Jonathan A JA
Publication Date: 2009-09

Variant appearance in text: rs2066718
PubMed Link: 19606474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology
Kavvoura, Fotini K FK; McQueen, Matthew B MB; Khoury, Muin J MJ; Tanzi, Rudolph E RE; Bertram, Lars L; Ioannidis, John P A JP
Publication Date: 2008-10-15

Variant appearance in text: rs2066718
PubMed Link: 18779388
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile.

Bmc Medical Genetics
Pasdar, Alireza A; Yadegarfar, Ghasem G; Cumming, Alastair A; Whalley, Lawrence L; St Clair, David D; MacLeod, Mary-Joan MJ
Publication Date: 2007-06-06

Variant appearance in text: ABCA1: V771M
PubMed Link: 17553166
Variant Present in the following documents:
  • Main text
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Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.

Molecular Neurodegeneration
Wahrle, Suzanne E SE; Shah, Aarti R AR; Fagan, Anne M AM; Smemo, Scott S; Kauwe, John S K JS; Grupe, Andrew A; Hinrichs, Anthony A; Mayo, Kevin K; Jiang, Hong H; Thal, Leon J LJ; Goate, Alison M AM; Holtzman, David M DM
Publication Date: 2007-04-12

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 17430597
Variant Present in the following documents:
  • Main text
  • 1750-1326-2-7.pdf
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ABCA1 polymorphisms and Alzheimer's disease.

Neuroscience Letters
Wavrant-De Vrièze, Fabienne F; Compton, Danielle D; Womick, Meridith M; Arepalli, Sampath S; Adighibe, Omanma O; Li, Ling L; Pérez-Tur, Jordi J; Hardy, John J
Publication Date: 2007-04-12

Variant appearance in text: ABCA1: V771M; rs2066718
PubMed Link: 17324514
Variant Present in the following documents:
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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

Plos Genetics
Brunham, Liam R LR; Singaraja, Roshni R RR; Pape, Terry D TD; Kejariwal, Anish A; Thomas, Paul D PD; Hayden, Michael R MR
Publication Date: 2005-12

Variant appearance in text: ABCA1: V771M
PubMed Link: 16429166
Variant Present in the following documents:
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  • pgen.0010083.pdf
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Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

The Journal Of Clinical Investigation
Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Jensen, Gorm B GB; Tybjaerg-Hansen, Anne A
Publication Date: 2004-11

Variant appearance in text: ABCA1: V771M
PubMed Link: 15520867
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Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

The Journal Of Clinical Investigation
Pajukanta, Päivi P
Publication Date: 2004-11

Variant appearance in text: ABCA1: V771M
PubMed Link: 15520856
Variant Present in the following documents:
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