Variant ID: 11-117091609-G-C

NM_004716.2(PCSK7):c.1156-1135C>G

This variant was identified in 18 publications




Publications:


Inherited iron overload disorders.

Translational Gastroenterology And Hepatology
A Piperno, S Pelucchi, R Mariani
Publication Date: 2020

Variant appearance in text: rs236918
PubMed Link: 32258529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Building bridges: PCSK7 as a NAFLD candidate gene connecting hepatic inflammation with hypertriglyceridemia.

Journal Of Lipid Research
RM Carr, NO Davidson
Publication Date: 2019-06

Variant appearance in text: rs236918
PubMed Link: 31023721
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients.

Journal Of Lipid Research
P Dongiovanni, M Meroni, G Baselli, RM Mancina, M Ruscica, M Longo, R Rametta, A Cespiati, S Pelusi, N Ferri, V Ranzani, V Nobili, J Pihlajamaki, AL Fracanzani, S Badiali, S Petta, S Fargion, S Romeo, J Kozlitina, L Valenti
Publication Date: 2019-06

Variant appearance in text: rs236918
PubMed Link: 30918065
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.

Annals Of Hepatology
JC Barton, CE McLaren, WP Chen, GA Ramm, GJ Anderson, LW Powell, VN Subramaniam, PC Adams, PD Phatak, LC Gurrin, JD Phillips, CJ Parker, MJ Emond, GD McLaren
Publication Date: 2018-08-24

Variant appearance in text: rs236918
PubMed Link: 30145563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein phosphatase 1 regulatory subunit 3B gene variation protects against hepatic fat accumulation and fibrosis in individuals at high risk of nonalcoholic fatty liver disease.

Hepatology Communications
P Dongiovanni, M Meroni, RM Mancina, G Baselli, R Rametta, S Pelusi, V Männistö, AL Fracanzani, S Badiali, L Miele, S Grimaudo, S Petta, E Bugianesi, G Soardo, S Fargion, J Pihlajamäki, S Romeo, L Valenti
Publication Date: 2018-06

Variant appearance in text: rs236918
PubMed Link: 29881818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of Dietary and Genetic Factors Influencing Body Iron Status and Risk of Type 2 Diabetes Within the EPIC-InterAct Study.

Diabetes Care
K Meidtner, C Podmore, J Kröger, YT van der Schouw, B Bendinelli, C Agnoli, L Arriola, A Barricarte, H Boeing, AJ Cross, C Dow, K Ekblom, G Fagherazzi, PW Franks, MJ Gunter, JM Huerta, P Jakszyn, M Jenab, VA Katzke, TJ Key, KT Khaw, T Kühn, C Kyrø, FR Mancini, O Melander, PM Nilsson, K Overvad, D Palli, S Panico, JR Quirós, M Rodríguez-Barranco, C Sacerdote, I Sluijs, M Stepien, A Tjonneland, R Tumino, NG Forouhi, SJ Sharp, C Langenberg, MB Schulze, E Riboli, NJ Wareham
Publication Date: 2018-02

Variant appearance in text: rs236918
PubMed Link: 29167213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-Diet Interaction and Precision Nutrition in Obesity.

International Journal Of Molecular Sciences
Y Heianza, L Qi
Publication Date: 2017-04-07

Variant appearance in text: rs236918
PubMed Link: 28387720
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diabetes in HFE Hemochromatosis.

Journal Of Diabetes Research
JC Barton, RT Acton
Publication Date: 2017

Variant appearance in text: rs236918
PubMed Link: 28331855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research
SY Eom, JA Lim, YD Kim, BS Choi, MS Hwang, JD Park, H Kim, HJ Kwon
Publication Date: 2016-07

Variant appearance in text: rs236918
PubMed Link: 27437086
Variant Present in the following documents:
  • Main text
  • tr-32-195-suppl.pdf
View BVdb publication page



INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
A Verma, JB Leader, SS Verma, A Frase, J Wallace, S Dudek, DR Lavage, CV Van Hout, FE Dewey, J Penn, A Lopez, JD Overton, DJ Carey, DH Ledbetter, HL Kirchner, MD Ritchie, SA Pendergrass
Publication Date: 2016

Variant appearance in text: rs236918
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



Heritability and genetic association analysis of neuroimaging measures in the Diabetes Heart Study.

Neurobiology Of Aging
LM Raffield, AJ Cox, CE Hugenschmidt, BI Freedman, CD Langefeld, JD Williamson, FC Hsu, JA Maldjian, DW Bowden
Publication Date: 2015-03

Variant appearance in text: rs236918
PubMed Link: 25523635
Variant Present in the following documents:
  • NIHMS643784-supplement-4.xls
View BVdb publication page



PCSK7 genotype modifies effect of a weight-loss diet on 2-year changes of insulin resistance: the POUNDS LOST trial.

Diabetes Care
T Huang, J Huang, Q Qi, Y Li, GA Bray, J Rood, FM Sacks, L Qi
Publication Date: 2015-03

Variant appearance in text: rs236918
PubMed Link: 25504030
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio
J Guillemot, R Essalmani, J Hamelin, NG Seidah
Publication Date: 2014

Variant appearance in text: rs236918
PubMed Link: 25349778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.

Science (New York, N.Y.)
BP Fairfax, P Humburg, S Makino, V Naranbhai, D Wong, E Lau, L Jostins, K Plant, R Andrews, C McGee, JC Knight
Publication Date: 2014-03-07

Variant appearance in text: rs236918
PubMed Link: 24604202
Variant Present in the following documents:
  • NIHMS58422-supplement-Table_S6.xls
View BVdb publication page



Genetics of the first seven proprotein convertase enzymes in health and disease.

Current Genomics
H Turpeinen, Z Ortutay, M Pesu
Publication Date: 2013-11

Variant appearance in text: rs236918
PubMed Link: 24396277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein convertase subtilisin/kexin type 7 (PCSK7) is essential for the zebrafish development and bioavailability of transforming growth factor β1a (TGFβ1a).

The Journal Of Biological Chemistry
H Turpeinen, A Oksanen, V Kivinen, S Kukkurainen, A Uusimäki, M Rämet, M Parikka, VP Hytönen, M Nykter, M Pesu
Publication Date: 2013-12-20

Variant appearance in text: rs236918
PubMed Link: 24178295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toenail iron, genetic determinants of iron status, and the risk of glioma.

Cancer Causes & Control : Ccc
GM Anic, MH Madden, RC Thompson, LB Nabors, JJ Olson, RV Larocca, JE Browning, JD Brockman, PA Forsyth, KM Egan
Publication Date: 2013-12

Variant appearance in text: rs236918
PubMed Link: 23996192
Variant Present in the following documents:
  • Main text
  • NIHMS520556-supplement-10552_2013_281_MOESM1_ESM.doc
View BVdb publication page



Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.

Human Molecular Genetics
K Oexle, JS Ried, AA Hicks, T Tanaka, C Hayward, M Bruegel, M Gögele, P Lichtner, B Müller-Myhsok, A Döring, T Illig, C Schwienbacher, C Minelli, I Pichler, GM Fiedler, J Thiery, I Rudan, AF Wright, H Campbell, L Ferrucci, S Bandinelli, PP Pramstaller, HE Wichmann, C Gieger, J Winkelmann, T Meitinger
Publication Date: 2011-03-01

Variant appearance in text: rs236918
PubMed Link: 21149283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000320934.3 c.1156-1135C>G - intron_variant - 9/16
ENST00000528217.1 n.2171C>G - non_coding_transcript_exon_variant 1/3 -
ENST00000534529.1 n.3186-1135C>G - intron_variant,non_coding_transcript_variant - 2/10
ENST00000540028.1 c.79-1135C>G - intron_variant - 1/9
NM_004716.4 c.1156-1135C>G - intron_variant - 9/16