PCSK9 c.399+165T>C

Variant ID: 1-55509872-T-C

NM_174936.3(PCSK9):c.399+165T>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs4927193
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
O'Connell, Emma M EM; Lohoff, Falk W FW
Publication Date: 2020

Variant appearance in text: rs4927193
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
  • fnins-14-00609.pdf
View BVdb publication page



Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One
Hayat, Mahtaab M; Kerr, Robyn R; Bentley, Amy R AR; Rotimi, Charles N CN; Raal, Frederick J FJ; Ramsay, Michèle M
Publication Date: 2020

Variant appearance in text: rs4927193
PubMed Link: 32084179
Variant Present in the following documents:
  • Main text
  • pone.0229098.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: PCSK9: 399+165T>C
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer's disease: A genetic and proteomic multi-cohort study.

Plos One
Picard, Cynthia C; Poirier, Alexandre A; Bélanger, Stéphanie S; Labonté, Anne A; Auld, Daniel D; Poirier, Judes J; ,
Publication Date: 2019

Variant appearance in text: rs4927193
PubMed Link: 31437157
Variant Present in the following documents:
  • Main text
  • pone.0220254.pdf
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs4927193
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
View BVdb publication page



Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Han, Dengfeng D; Ma, Jianhua J; Zhang, Xiaoning X; Cai, Jian J; Li, Jinlan J; Tuerxun, Tuerhong T; Hao, Chenguang C; Du, Lei L; Lei, Jing J
Publication Date: 2014-09-30

Variant appearance in text: rs4927193
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
  • medscimonit-20-1758.pdf
View BVdb publication page



PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
Postmus, Iris I; Trompet, Stella S; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ford, Ian I; Stott, David J DJ; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Jukema, J Wouter JW
Publication Date: 2013-02

Variant appearance in text: rs4927193
PubMed Link: 23300213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs4927193
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page