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Usefulness of the genetic risk score to ...
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Document type :
Article dans une revue scientifique: Article original
DOI :
10.1038/s41431-017-0078-y
PMID :
29374275
Permalink :
http://hdl.handle.net/20.500.12210/16903
Title :
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
Author(s) :
Ghaleb, Youmna [Auteur]
Elbitar, Sandy [Auteur]
El Khoury, Petra [Auteur]
Bruckert, Eric [Auteur]
Carreau, Valérie [Auteur]
Carrie, Alain [Auteur]
Moulin, Philippe [Auteur]
Di-Filippo, Mathilde [Auteur]
Charriere, Sybil [Auteur]
Iliozer, Harout [Auteur]
Farnier, Michel [Auteur]
Luc, Gerald [Auteur]
Rabes, Jean-Pierre [Auteur]
Boileau, Catherine [Auteur]
Abifadel, Marianne [Auteur]
Varret, Mathilde [Auteur]
Journal title :
European journal of human genetics . EJHG
Abbreviated title :
Eur. J. Hum. Genet.
Publication date :
2018-01-26
ISSN :
1476-5438
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in ...
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Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases. Polygenic forms of hypercholesterolemia may be present among patients clinically diagnosed with FH but with no identified mutation (FH mutation-negative (FH/M-)). To address whether polygenic forms may explain phenocopies in FH families, we calculated a 6-single-nucleotide polymorphism (SNP) genetic risk score (GRS) in all members from five French FH families where a mutation was identified (FH/M+) as well as some phenocopies (FH/M-). In two families, three FH/M- patients present a high GRS suggesting a polygenic hypercholesterolemia for these phenocopies. However, a high GRS is also observed in nine FH/M+ patients and in four unaffected relatives from three families. These observations indicate that the GRS does not seem to be a good diagnostic tool at the individual level. Nevertheless, the GRS seems to be a contributor of the severity of hypercholesterolemia since patients who cumulate a mutation and a high GRS exhibit higher low-density lipoprotein cholesterol levels when compared to patients with only FH (p = 0.054) or only polygenic hypercholesterolemia (p = 0.0039). In conclusion, the GRS can be used as a marker of the severity of hypercholesterolemia but does not seem to be a reliable tool to distinguish phenocopies within FH families.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
Université de Lille
Collections :
  • METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694
Submission date :
2019-12-09T16:50:44Z
Université de Lille

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