Variant ID: 19-11222300-G-A

NM_000527.4(LDLR):c.1171G>A;(p.Ala391Thr)

This variant was identified in 34 publications




Publications:


Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan
Publication Date: 2020-01-01

Variant appearance in text: LDLR: A391T; rs11669576
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports
M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws
Publication Date: 2019-11-19

Variant appearance in text: rs11669576
PubMed Link: 31745181
Variant Present in the following documents:
  • 41598_2019_53604_MOESM2_ESM.xlsx
View BVdb publication page



Pharmacogenetic analyses of variations of measures of cardiovascular risk in Alzheimer's dementia.

The Indian Journal Of Medical Research
FF de Oliveira, JM Berretta, GV de Almeida Junior, SS de Almeida, ES Chen, MC Smith, PHF Bertolucci
Publication Date: 2019-09

Variant appearance in text: rs11669576
PubMed Link: 31719297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs11669576
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



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

Nature Communications
K Kuchenbaecker, N Telkar, T Reiker, RG Walters, K Lin, A Eriksson, D Gurdasani, A Gilly, L Southam, E Tsafantakis, M Karaleftheri, J Seeley, A Kamali, G Asiki, IY Millwood, M Holmes, H Du, Y Guo, M Kumari, G Dedoussis, L Li, Z Chen, MS Sandhu, E Zeggini,
Publication Date: 2019-09-24

Variant appearance in text: rs11669576
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients
S Hossain, MA Beydoun, MF Kuczmarski, S Tajuddin, MK Evans, AB Zonderman
Publication Date: 2019-09-11

Variant appearance in text: rs11669576
PubMed Link: 31514322
Variant Present in the following documents:
  • nutrients-11-02181-s001.pdf
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
MC Barboza-Cerda, O Barboza-Quintana, G Martínez-Aldape, R Garza-Guajardo, MA Déctor
Publication Date: 2019-09

Variant appearance in text: LDLR: 1171G>A; rs11669576
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen
Publication Date: 2019-04-11

Variant appearance in text: LDLR: 1171G>A; Ala391Thr
PubMed Link: 30971288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: LDLR: Ala391Thr
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



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

Bmc Gastroenterology
R Harada, M Kimura, Y Sato, T Taniguchi, T Tomonari, T Tanaka, H Tanaka, N Muguruma, H Shinomiya, H Honda, I Imoto, M Sogabe, T Okahisa, T Takayama
Publication Date: 2018-01-30

Variant appearance in text: rs11669576
PubMed Link: 29382324
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: rs11669576
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo
Publication Date: 2017-04

Variant appearance in text: LDLR: 1171G>A; Ala391Thr; rs11669576
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
  • ejhg2016193x1.docx
  • ejhg2016193x2.xlsx
  • ejhg2016193x6.pdf
View BVdb publication page



Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer's disease dementia.

Revista Brasileira De Psiquiatria (Sao Paulo, Brazil : 1999)
FF Oliveira, ES Chen, MC Smith, PH Bertolucci
Publication Date: 2017

Variant appearance in text: rs11669576
PubMed Link: 28099631
Variant Present in the following documents:
  • Main text
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
R Mehta, R Zubirán, AJ Martagón, A Vazquez-Cárdenas, Y Segura-Kato, MT Tusié-Luna, CA Aguilar-Salinas
Publication Date: 2016-12

Variant appearance in text: LDLR: 1171G>A
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Molecular Genetics & Genomic Medicine
AC Fahed, R Khalaf, R Salloum, RR Andary, R Safa, I El-Rassy, E Moubarak, ST Azar, FF Bitar, G Nemer
Publication Date: 2016-05

Variant appearance in text: LDLR: A391T
PubMed Link: 27247956
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: LDLR: Ala391Thr
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
  • mmc1.doc
View BVdb publication page



LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One
E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, AM Zubiaga, A Estonba
Publication Date: 2016

Variant appearance in text: LDLR: Ala391Thr; rs11669576
PubMed Link: 26820623
Variant Present in the following documents:
  • pone.0146990.s002.doc
View BVdb publication page



Lipids, blood pressure and kidney update 2015.

Lipids In Health And Disease
M Banach, WS Aronow, MC Serban, J Rysz, L Voroneanu, A Covic
Publication Date: 2015-12-30

Variant appearance in text: rs11669576
PubMed Link: 26718096
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low-density lipoprotein receptor genetic polymorphism in chronic hepatitis C virus Egyptian patients affects treatment response.

World Journal Of Gastroenterology
M Naga, M Amin, D Algendy, A Elbadry, M Fawzi, A Foda, S Esmat, D Sabry, L Rashed, S Gabal, M Kamal
Publication Date: 2015-10-21

Variant appearance in text: LDLR: 1171G>A
PubMed Link: 26494968
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
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: LDLR: Ala391Thr; rs11669576
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics
S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
Publication Date: 2015-09

Variant appearance in text: LDLR: Ala391Thr; rs11669576
PubMed Link: 26327206
Variant Present in the following documents:
  • pgen.1005379.s008.xlsx
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: LDLR: A391T
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: LDLR: Ala391Thr; rs11669576
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.

Nature Genetics
S Kohsaka, N Shukla, N Ameur, T Ito, CK Ng, L Wang, D Lim, A Marchetti, A Viale, M Pirun, ND Socci, LX Qin, R Sciot, J Bridge, S Singer, P Meyers, LH Wexler, FG Barr, S Dogan, JA Fletcher, JS Reis-Filho, M Ladanyi
Publication Date: 2014-06

Variant appearance in text: rs11669576
PubMed Link: 24793135
Variant Present in the following documents:
  • NIHMS635209-supplement-Table_3.xlsx
View BVdb publication page



Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics
OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer
Publication Date: 2014-04

Variant appearance in text: rs11669576
PubMed Link: 24633158
Variant Present in the following documents:
  • NIHMS570373-supplement-1.pdf
View BVdb publication page



Genetic heterogeneity of hepatitis C virus cell entry receptors seems to have no influence on selection of virus variants.

Virology Journal
M Lipskoch, M Wiese, J Timm, M Roggendorf, S Viazov
Publication Date: 2014-03-14

Variant appearance in text: rs11669576
PubMed Link: 24628791
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
Publication Date: 2013-12-27

Variant appearance in text: LDLR: 1171G>A; Ala391Thr
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis
Publication Date: 2014-02

Variant appearance in text: rs11669576
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: rs11669576
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



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

Plos One
X Liu, C Yue, Z Xu, H Shu, M Pu, H Yu, Y Shi, L Zhuang, X Xu, Z Zhang
Publication Date: 2012

Variant appearance in text: rs11669576
PubMed Link: 22911757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia
Publication Date: 2009-04-07

Variant appearance in text: rs11669576
PubMed Link: 19351393
Variant Present in the following documents:
  • 1755-8794-2-16-S1.xls
View BVdb publication page



Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension.

Journal Of Hypertension
J Taylor, YV Sun, J Chu, TH Mosley, SL Kardia
Publication Date: 2008-12

Variant appearance in text: rs11669576
PubMed Link: 19008710
Variant Present in the following documents:
  • NIHMS254027-supplement-supplemental_table.doc
View BVdb publication page



Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.

Plos One
P Linsel-Nitschke, A Götz, J Erdmann, I Braenne, P Braund, C Hengstenberg, K Stark, M Fischer, S Schreiber, NE El Mokhtari, A Schaefer, J Schrezenmeir, J Schrezenmeier, D Rubin, A Hinney, T Reinehr, C Roth, J Ortlepp, P Hanrath, AS Hall, M Mangino, W Lieb, C Lamina, IM Heid, A Doering, C Gieger, A Peters, T Meitinger, HE Wichmann, IR König, A Ziegler, F Kronenberg, NJ Samani, H Schunkert, ,
Publication Date: 2008-08-20

Variant appearance in text: rs11669576
PubMed Link: 18714375
Variant Present in the following documents:
  • pone.0002986.s003.doc
View BVdb publication page



Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics
SL Kardia, MT Greene, E Boerwinkle, ST Turner, IJ Kullo
Publication Date: 2008-05-15

Variant appearance in text: rs11669576
PubMed Link: 18482449
Variant Present in the following documents:
  • 1755-8794-1-16-S1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1426G>A p.Ala476Thr missense_variant 8/18 -
ENST00000455727.2 c.667G>A p.Ala223Thr missense_variant 6/16 -
ENST00000535915.1 c.1048G>A p.Ala350Thr missense_variant 7/17 -
ENST00000545707.1 c.790G>A p.Ala264Thr missense_variant 7/16 -
ENST00000557933.1 c.1171G>A p.Ala391Thr missense_variant 8/18 -
ENST00000558013.1 c.1171G>A p.Ala391Thr missense_variant 8/18 -
ENST00000558518.1 c.1171G>A p.Ala391Thr missense_variant 8/18 -
ENST00000560173.1 n.170G>A - non_coding_transcript_exon_variant 2/3 -
ENST00000560467.1 c.652G>A p.Ala218Thr missense_variant 4/6 -
NM_000527.5 c.1171G>A p.Ala391Thr missense_variant 8/18 -
NM_001195798.2 c.1171G>A p.Ala391Thr missense_variant 8/18 -
NM_001195799.2 c.1048G>A p.Ala350Thr missense_variant 7/17 -
NM_001195800.2 c.667G>A p.Ala223Thr missense_variant 6/16 -
NM_001195803.2 c.790G>A p.Ala264Thr missense_variant 7/16 -