Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio
Rattachement africain : it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved in low-density lipoprotein (LDL) uptake (LDLR, APOB and PCSK9). Genetic diagnosis is particularly useful in asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their genetic status may be of considerable importance as the compound heterozygous status is much more severe than the heterozygous one. Our study aims at depicting the genetic background of an Italian pediatric population with FH focusing on the correlation between lipid profile and genetic status. Methods Out of 196 patients with clinically suspected FH (LDL-cholesterol [LDL-C] levels above 3.37 mmol/L, cholesterol level above 6.46 mmol/L in a first-degree relative or the presence of premature cardiovascular acute disease in a first/second-degree relative), we screened 164 index cases for mutations in the LDLR, APOB and PCSK9 genes. Results Patients with mutations (129/164) showed increased levels of LDL-C, 95th percentile-adjusted LDL-C and LDL/high-density lipoprotein (HDL) ratio and decreased levels of HDL-C, adjusted HDL-C. The association of the LDL/HDL ratio with the presence of mutations was assessed independently of age, (body mass index) BMI, parental hypercholesterolemia, premature coronary artery disease (CAD), triglycerides by multivariate logistic regression (odds ratio [OR]=1.701 [1.103-2.621], p=0.016). The LDL/HDL ratio gradually increased from patients without mutations to patients with missense mutations, null mutations and compound heterozygotes. Conclusions In conclusion, the LDL/HDL ratio proved to be a better parameter than LDL-C for discriminating patients with from patients without mutations across different genetic statuses.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio
- Date Crossref
- 02/02/2019
- Éditeur
- Walter de Gruyter GmbH
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) pays non établi dans la noticeEntreprise
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University of Naples Federico II pays non établi dans la noticeUniversité ou école supérieure
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University of Turin pays non établi dans la noticeUniversité ou école supérieure
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CEINGE Biotecnologie Avanzate s.c. a r.l. pays non établi dans la noticeInstitution
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Dipartimento di Medicina Molecolare e Biotecnologie Mediche pays non établi dans la noticeInstitution
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Dipartimento di Scienze della Sanità Pubblica e Pediatriche pays non établi dans la noticeInstitution
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Dipartimento di Scienze Mediche Traslazionali pays non établi dans la noticeInstitution
CEINGE Biotecnologie Avanzate Franco Salvatore (Italy), University of Naples Federico II et University of Turin, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.