LDLR c.*666T>C

Variant ID: 19-11242658-T-C

NM_000527.4(LDLR):c.*666T>C

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China.

Human Genomics
Wang, Jiawen J; Yang, Lin L; Duan, Shuhan S; Sun, Qiuxia Q; Li, Youjing Y; Wu, Jun J; Wu, Wenxin W; Wang, Zheng Z; Liu, Yan Y; Tang, Renkuan R; Yang, Junbao J; Liu, Chao C; Yuan, Buhong B; Wang, Daoyong D; Xu, Jianwei J; Wang, Mengge M; He, Guanglin G
Publication Date: 2023-01-31

Variant appearance in text: rs1433099
PubMed Link: 36721228
Variant Present in the following documents:
  • Main text
  • 40246_2023_Article_452.pdf
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Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study.

Metabolites
Alsaif, Faisal F; Al-Hamoudi, Waleed W; Alotaiby, Maram M; Alsadoon, Amani A; Almayouf, Mohammed M; Almadany, Hadeel H; Abuhaimed, Jawahir J; Ghufran, Noman N; Merajuddin, Ahmed A; Ali Khan, Imran I
Publication Date: 2022-12-09

Variant appearance in text: rs1433099
PubMed Link: 36557278
Variant Present in the following documents:
  • metabolites-12-01240.pdf
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Identification of Risk Genes Associated with Myocardial Infarction-Big Data Analysis and Literature Review.

International Journal Of Molecular Sciences
Tirdea, Cosmin C; Hostiuc, Sorin S; Moldovan, Horatiu H; Scafa-Udriste, Alexandru A
Publication Date: 2022-11-30

Variant appearance in text: rs1433099
PubMed Link: 36499335
Variant Present in the following documents:
  • Main text
  • ijms-23-15008.pdf
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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: rs1433099
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs1433099
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.

Frontiers In Genetics
Kim, Serim S; Seo, Jong Do JD; Yun, Yeo-Min YM; Kim, Hanah H; Kim, Tae-Eun TE; Lee, Taeheon T; Lee, Tae-Rim TR; Lee, Jun Hyung JH; Cho, Eun-Hae EH; Ki, Chang-Seok CS
Publication Date: 2022

Variant appearance in text: rs1433099
PubMed Link: 35664336
Variant Present in the following documents:
  • DataSheet1.pdf
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: rs1433099
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
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Association of LDLR rs1433099 with the Risk of NAFLD and CVD in Chinese Han Population.

Journal Of Clinical And Translational Hepatology
Han, Yi Y; Zhang, Yongshuo Y; Liu, Shousheng S; Chen, Guangxia G; Cao, Linlin L; Xin, Yongning Y
Publication Date: 2021-04-28

Variant appearance in text: rs1433099
PubMed Link: 34007802
Variant Present in the following documents:
  • Main text
  • JCTH-9-203.pdf
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Role of Genetic Variations in the Hepatic Handling of Drugs.

International Journal Of Molecular Sciences
Marin, Jose J G JJG; Serrano, Maria A MA; Monte, Maria J MJ; Sanchez-Martin, Anabel A; Temprano, Alvaro G AG; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-04-20

Variant appearance in text: rs1433099
PubMed Link: 32326111
Variant Present in the following documents:
  • Main text
  • ijms-21-02884.pdf
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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: rs1433099
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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: rs1433099
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_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: rs1433099
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
  • LIV-39-463.pdf
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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: rs1433099
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology
Harada, Rie R; Kimura, Masako M; Sato, Yasushi Y; Taniguchi, Tatsuya T; Tomonari, Tetsu T; Tanaka, Takahiro T; Tanaka, Hironori H; Muguruma, Naoki N; Shinomiya, Hirohiko H; Honda, Hirohito H; Imoto, Issei I; Sogabe, Masahiro M; Okahisa, Toshiya T; Takayama, Tetsuji T
Publication Date: 2018-01-30

Variant appearance in text: rs1433099
PubMed Link: 29382324
Variant Present in the following documents:
  • Main text
  • 12876_2018_Article_747.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs1433099
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs1433099
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



A Bayesian group sparse multi-task regression model for imaging genetics.

Bioinformatics (Oxford, England)
Greenlaw, Keelin K; Szefer, Elena E; Graham, Jinko J; Lesperance, Mary M; Nathoo, Farouk S FS; ,
Publication Date: 2017-08-15

Variant appearance in text: rs1433099
PubMed Link: 28419235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic Foundations of Therapeutic Efficacy and Adverse Events of Statins.

International Journal Of Molecular Sciences
Arrigoni, Elena E; Del Re, Marzia M; Fidilio, Leonardo L; Fogli, Stefano S; Danesi, Romano R; Di Paolo, Antonello A
Publication Date: 2017-01-06

Variant appearance in text: rs1433099
PubMed Link: 28067828
Variant Present in the following documents:
  • Main text
  • ijms-18-00104.pdf
View BVdb publication page



Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.

Plos One
De Castro-Orós, Isabel I; Solà, Rosa R; Valls, Rosa María RM; Brea, Angel A; Mozas, Pilar P; Puzo, Jose J; Pocoví, Miguel M
Publication Date: 2016

Variant appearance in text: rs1433099
PubMed Link: 27015087
Variant Present in the following documents:
  • Main text
  • pone.0150785.pdf
View BVdb publication page



Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.

Oncotarget
Bai, Feng F; Yuan, Yonggui Y; Shi, Yongmei Y; Zhang, Zhijun Z
Publication Date: 2016-03-29

Variant appearance in text: rs1433099
PubMed Link: 26985771
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic, metabolic and environmental factors involved in the development of liver cirrhosis in Mexico.

World Journal Of Gastroenterology
Ramos-Lopez, Omar O; Martinez-Lopez, Erika E; Roman, Sonia S; Fierro, Nora A NA; Panduro, Arturo A
Publication Date: 2015-11-07

Variant appearance in text: rs1433099
PubMed Link: 26556986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J
Publication Date: 2015-09-28

Variant appearance in text: rs1433099
PubMed Link: 26415676
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1433099
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
Publication Date: 2012

Variant appearance in text: rs1433099
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease.

Biomed Research International
Ye, Huadan H; Zhao, Qianlei Q; Huang, Yi Y; Wang, Lingyan L; Liu, Haibo H; Wang, Chunming C; Dai, Dongjun D; Xu, Leiting L; Ye, Meng M; Duan, Shiwei S
Publication Date: 2014

Variant appearance in text: rs1433099
PubMed Link: 24900971
Variant Present in the following documents:
  • Main text
  • BMRI2014-564940.pdf
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs1433099
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

Plos One
Takeuchi, Fumihiko F; Isono, Masato M; Katsuya, Tomohiro T; Yokota, Mitsuhiro M; Yamamoto, Ken K; Nabika, Toru T; Shimokawa, Kazuro K; Nakashima, Eitaro E; Sugiyama, Takao T; Rakugi, Hiromi H; Yamaguchi, Shuhei S; Ogihara, Toshio T; Yamori, Yukio Y; Kato, Norihiro N
Publication Date: 2012

Variant appearance in text: rs1433099
PubMed Link: 23050023
Variant Present in the following documents:
  • Main text
  • pone.0046385.pdf
View BVdb publication page



Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One
Liu, Xiaoyan X; Yue, Chunxian C; Xu, Zhi Z; Shu, Hao H; Pu, Mengjia M; Yu, Hui H; Shi, Yongmei Y; Zhuang, Liying L; Xu, Xiaohui X; Zhang, Zhijun Z
Publication Date: 2012

Variant appearance in text: rs1433099
PubMed Link: 22911757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

Bmc Genetics
Ban, Hyo-Jeong HJ; Heo, Jee Yeon JY; Oh, Kyung-Soo KS; Park, Keun-Joon KJ
Publication Date: 2010-04-23

Variant appearance in text: rs1433099
PubMed Link: 20416077
Variant Present in the following documents:
  • Main text
  • 1471-2156-11-26.pdf
View BVdb publication page



Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin.

Arteriosclerosis, Thrombosis, And Vascular Biology
Mangravite, Lara M LM; Medina, Marisa Wong MW; Cui, Jinrui J; Pressman, Sheila S; Smith, Joshua D JD; Rieder, Mark J MJ; Guo, Xiuqing X; Nickerson, Deborah A DA; Rotter, Jerome I JI; Krauss, Ronald M RM
Publication Date: 2010-07

Variant appearance in text: rs1433099
PubMed Link: 20413733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.

Journal Of Thrombosis And Haemostasis : Jth
Franceschini, N N; Muallem, H H; Rose, K M KM; Boerwinkle, E E; Maeda, N N
Publication Date: 2009-03

Variant appearance in text: rs1433099
PubMed Link: 19087220
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: rs1433099
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER.

Atherosclerosis
Polisecki, Eliana E; Muallem, Hind H; Maeda, Nobuyo N; Peter, Inga I; Robertson, Michele M; McMahon, Alex D AD; Ford, Ian I; Packard, Christopher C; Shepherd, James J; Jukema, J Wouter JW; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ordovas, Jose M JM; Schaefer, Ernst J EJ; ,
Publication Date: 2008-09

Variant appearance in text: rs1433099
PubMed Link: 18261733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
Steffen, K M KM; Cooper, M E ME; Shi, M M; Caprau, D D; Simhan, H N HN; Dagle, J M JM; Marazita, M L ML; Murray, J C JC
Publication Date: 2007-11

Variant appearance in text: rs1433099
PubMed Link: 17855807
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.

Bmc Biotechnology
Liljedahl, Ulrika U; Fredriksson, Mona M; Dahlgren, Andreas A; Syvänen, Ann-Christine AC
Publication Date: 2004-10-22

Variant appearance in text: rs1433099
PubMed Link: 15500681
Variant Present in the following documents:
  • Main text
  • 1472-6750-4-24.pdf
View BVdb publication page