Variant ID: 19-11227554-C-T

NM_000527.4(LDLR):c.1725C>T;(p.Leu575Leu)

This variant was identified in 20 publications




Publications:


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
GS Steba, SM Koekkoek, MWT Tanck, JW Vanhommerig, JTM van der Meer, D Kwa, K Brinkman, M Prins, B Berkhout, G Pollakis, R Molenkamp, J Schinkel, WA Paxton,
Publication Date: 2019-03

Variant appearance in text: rs1799898
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Journal Of Cardiovascular Development And Disease
CK Jha, R Mir, N Khullar, S Banu, SMS Chahal
Publication Date: 2018-05-29

Variant appearance in text: rs1799898
PubMed Link: 29843469
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR C1725T Gene Polymorphism Frequency in Type 2 Diabetes Mellitus Patients With Dyslipidemia.

Journal Of Clinical Medicine Research
Z Eroglu, E Harman, E Vardarli, M Kayikcioglu, AT Vardarli
Publication Date: 2016-11

Variant appearance in text: rs1799898
PubMed Link: 27738480
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: rs1799898
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.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: rs1799898
PubMed Link: 26718096
Variant Present in the following documents:
  • Main text
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: 1725C>T; rs1799898
PubMed Link: 26327206
Variant Present in the following documents:
  • pgen.1005379.s008.xlsx
  • pgen.1005379.s016.docx
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: Leu575Leu; rs1799898
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian Generalized Low Rank Regression Models for Neuroimaging Phenotypes and Genetic Markers.

Journal Of The American Statistical Association
H Zhu, Z Khondker, Z Lu, JG Ibrahim,
Publication Date: 2014

Variant appearance in text: rs1799898
PubMed Link: 25349462
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

The West Virginia Medical Journal
Y Dementieva, TL Green, DA Primerano, L Wei, J Denvir, P Wehner, S Dodson, MR Flood, BA Pollock, M Huff, C Hill, R Kreisberg, A Francis, K Morrison, H Blackwood, M Davis, HM Lee, S Warren,
Publication Date: 2012

Variant appearance in text: LDLR: L575L; rs1799898
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel insights into the regulatory architecture of CD4+ T cells in rheumatoid arthritis.

Plos One
A Aterido, C Palacio, S Marsal, G Avila, A Julià
Publication Date: 2014

Variant appearance in text: rs1799898
PubMed Link: 24959711
Variant Present in the following documents:
  • pone.0100690.s009.xls
View BVdb publication page



Properties of local interactions and their potential value in complementing genome-wide association studies.

Plos One
W Wei, A Gyenesei, CA Semple, CS Haley
Publication Date: 2013

Variant appearance in text: rs1799898
PubMed Link: 23940718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
Publication Date: 2013

Variant appearance in text: rs1799898
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.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: rs1799898
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics
F Gao, HE Ihn, MW Medina, RM Krauss
Publication Date: 2013-04-01

Variant appearance in text: rs1799898
PubMed Link: 23297366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population.

Physiological Genomics
IA Arenas, J Tremblay, B Deslauriers, J Sandoval, O Šeda, D Gaudet, E Merlo, T Kotchen, AW Cowley, P Hamet
Publication Date: 2013-02-15

Variant appearance in text: rs1799898
PubMed Link: 23269701
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Interaction between Pesticide Use and Genetic Variants Involved in Lipid Metabolism on Prostate Cancer Risk.

Journal Of Cancer Epidemiology
G Andreotti, S Koutros, SI Berndt, K Hughes Barry, L Hou, JA Hoppin, DP Sandler, JH Lubin, LA Burdette, J Yuenger, M Yeager, LE Beane Freeman, MC Alavanja
Publication Date: 2012

Variant appearance in text: rs1799898
PubMed Link: 22919386
Variant Present in the following documents:
  • 358076.f1.pdf
View BVdb publication page



Large scale association analysis identifies three susceptibility loci for coronary artery disease.

Plos One
S Saade, JB Cazier, M Ghassibe-Sabbagh, S Youhanna, DA Badro, Y Kamatani, J Hager, JS Yeretzian, G El-Khazen, M Haber, AK Salloum, B Douaihy, R Othman, N Shasha, S Kabbani, HE Bayeh, E Chammas, M Farrall, D Gauguier, DE Platt, PA Zalloua,
Publication Date: 2011

Variant appearance in text: rs1799898
PubMed Link: 22216278
Variant Present in the following documents:
  • pone.0029427.s001.doc
View BVdb publication page



Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.

Alcoholism, Clinical And Experimental Research
KS Kendler, G Kalsi, PA Holmans, AR Sanders, SH Aggen, DM Dick, F Aliev, J Shi, DF Levinson, PV Gejman
Publication Date: 2011-05

Variant appearance in text: rs1799898
PubMed Link: 21314694
Variant Present in the following documents:
  • NIHMS259124-supplement-Supp_Table_S4.doc
View BVdb publication page



Candidate gene polymorphisms for ischemic stroke.

Stroke
M Matarin, WM Brown, H Dena, A Britton, FW De Vrieze, TG Brott, RD Brown, BB Worrall, LD Case, SJ Chanock, EJ Metter, L Ferruci, D Gamble, JA Hardy, SS Rich, A Singleton, JF Meschia
Publication Date: 2009-11

Variant appearance in text: rs1799898
PubMed Link: 19729601
Variant Present in the following documents:
  • NIHMS145584-supplement-1.pdf
View BVdb publication page



Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

Plos One
A Hinney, TT Nguyen, A Scherag, S Friedel, G Brönner, TD Müller, H Grallert, T Illig, HE Wichmann, W Rief, H Schäfer, J Hebebrand
Publication Date: 2007-12-26

Variant appearance in text: rs1799898
PubMed Link: 18159244
Variant Present in the following documents:
  • Main text
  • pone.0001361.s001.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1980C>T p.Leu660= synonymous_variant 12/18 -
ENST00000455727.2 c.1221C>T p.Leu407= synonymous_variant 10/16 -
ENST00000535915.1 c.1602C>T p.Leu534= synonymous_variant 11/17 -
ENST00000545707.1 c.1344C>T p.Leu448= synonymous_variant 11/16 -
ENST00000557933.1 c.1725C>T p.Leu575= synonymous_variant 12/18 -
ENST00000558013.1 c.1725C>T p.Leu575= synonymous_variant 12/18 -
ENST00000558518.1 c.1725C>T p.Leu575= synonymous_variant 12/18 -
ENST00000559340.1 c.426+666C>T - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1725C>T p.Leu575= synonymous_variant 12/18 -
NM_001195798.2 c.1725C>T p.Leu575= synonymous_variant 12/18 -
NM_001195799.2 c.1602C>T p.Leu534= synonymous_variant 11/17 -
NM_001195800.2 c.1221C>T p.Leu407= synonymous_variant 10/16 -
NM_001195803.2 c.1344C>T p.Leu448= synonymous_variant 11/16 -