LDLR c.1999_2000delinsAC ;(p.C667T)

Variant ID: 19-11231057-TG-AC

NM_000527.4(LDLR):c.1999_2000delinsAC;(p.C667T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A minor allele of the haplotype located in the 19q13 loci is associated with a decreased risk of hyper-LDL-cholesterolemia, and a balanced diet and high protein intake can reduce the risk.

Lipids In Health And Disease
Park, Sunmin S; Kang, Suna S
Publication Date: 2020-07-29

Variant appearance in text: LDLR: C667T
PubMed Link: 32727492
Variant Present in the following documents:
  • Main text
  • 12944_2020_Article_1352.pdf
View BVdb publication page



Is Alzheimer's Disease a Liver Disease of the Brain?

Journal Of Alzheimer'S Disease : Jad
Bassendine, Margaret F MF; Taylor-Robinson, Simon D SD; Fertleman, Michael M; Khan, Michael M; Neely, Dermot D
Publication Date: 2020

Variant appearance in text: LDLR: C667T
PubMed Link: 32250293
Variant Present in the following documents:
  • Main text
  • jad-75-jad190848.pdf
View BVdb publication page



Role of LRP1 in the pathogenesis of Alzheimer's disease: evidence from clinical and preclinical studies.

Journal Of Lipid Research
Shinohara, Mitsuru M; Tachibana, Masaya M; Kanekiyo, Takahisa T; Bu, Guojun G
Publication Date: 2017-07

Variant appearance in text: LDLR: C667T
PubMed Link: 28381441
Variant Present in the following documents:
  • Main text
View BVdb publication page



High Incidence of ACE/PAI-1 in Association to a Spectrum of Other Polymorphic Cardiovascular Genes Involving PBMCs Proinflammatory Cytokines in Hypertensive Hypercholesterolemic Patients: Reversibility with a Combination of ACE Inhibitor and Statin.

Plos One
AlBacha, Jeanne d'Arc Jd; Khoury, Mira M; Mouawad, Charbel C; Haddad, Katia K; Hamoui, Samar S; Azar, Albert A; Fajloun, Ziad Z; Makdissy, Nehman N
Publication Date: 2015

Variant appearance in text: LDLR: C667T
PubMed Link: 25973747
Variant Present in the following documents:
  • Main text
  • pone.0127266.pdf
View BVdb publication page



Personalized medicine in coronary artery disease: insights from genomic research.

Korean Circulation Journal
Lee, Sang-Hak SH; Shin, Dong-Jik DJ; Jang, Yangsoo Y
Publication Date: 2009-04

Variant appearance in text: LDLR: C667T
PubMed Link: 19949601
Variant Present in the following documents:
  • kcj-39-129.pdf
View BVdb publication page