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| Pàgina inicial > Articles > Articles publicats > Polygenic markers in patients diagnosed of autosomal dominant hypercholesterolemia in Catalonia : |
(Institut d'Investigació Biomèdica Sant Pau) (Hospital Universitari Joan XXIII de Tarragona. Institut d'Investigació Sanitària Pere Virgili) (Hospital Clínic i Provincial de Barcelona)
| Data: | 2020 |
| Resum: | Familial hypercholesterolemia (FH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes. A pathological variant has not been identified in 30-70% of clinically diagnosed FH patients, and a burden of LDL cholesterol (LDL-c)-raising alleles has been hypothesized as a potential cause of hypercholesterolemia in these patients. Our aim was to study the distribution of weighted LDL-c-raising single-nucleotide polymorphism (SNP) scores (weighted gene scores or wGS) in a population recruited in a clinical setting in Catalonia. The study included 670 consecutive patients with a clinical diagnosis of FH and a prior genetic study involving 250 mutation-positive (FH/M+) and 420 mutation-negative (FH/M−) patients. Three wGSs based on LDL-c-raising variants were calculated to evaluate their distribution among FH patients and compared with 503 European samples from the 1000 Genomes Project. The FH/M− patients had significantly higher wGSs than the FH/M+ and control populations, with sensitivities ranging from 42% to 47%. A wGS based only on the SNPs significantly associated with FH (wGS8) showed a higher area under the receiver operating characteristic curve, and higher diagnostic specificity and sensitivity, with 46. 4% of the subjects in the top quartile. wGS8 would allow for the assignment of a genetic cause to 66. 4% of the patients if those with polygenic FH are added to the 37. 3% of patients with monogenic FH. Our data indicate that a score based on 8 SNPs and the75th percentile cutoff point may identify patients with polygenic FH in Catalonia, although with limited diagnostic sensitivity and specificity. |
| Ajuts: | Ministerio de Economía y Competitividad PI14/01648 Instituto de Salud Carlos III PI18/00164 |
| Nota: | Altres ajuts: Fundació la Marató de TV3 grant 20152431 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Familial hypercholesterolemia ; Atherosclerosis ; Genetic risk scores ; Cardiovascular risk ; Molecular diagnosis |
| Publicat a: | Biomedicines, Vol. 8, Issue 9 (September 2020) , art. 353, ISSN 2227-9059 |
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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut de Recerca Sant Pau
Articles > Articles de recerca
Articles > Articles publicats
