The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Abstract:

:Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine the genetic background of Slovak patients suspected of FH. Patients with clinical suspicion of FH (235 unrelated probands and 124 family relatives) were recruited throughout Slovakia during the years 2011-2015. The order of DNA analyses in probands was as follows: 1. APOB mutation p.Arg3527Gln by real-time PCR method, 2. direct sequencing of the LDLR gene 3. MLPA analysis of the LDLR gene. We have identified 14 probands and 2 relatives with an APOB mutation p.Arg3527Gln, and 89 probands and 75 relatives with 54 different LDLR mutations. Nine of LDLR mutations were novel (i.e. p.Asp90Glu, c.314-2A>G, p.Asp136Tyr, p.Ser177Pro, p.Lys225_Glu228delinsCysLys, p.Gly478Glu, p.Gly675Trpfs*42, p.Leu680Pro, p.Thr832Argfs*3). This is the first study on molecular genetics of FH in Slovakia encompassing the analysis of whole LDLR gene. Genetic etiology of FH was confirmed in 103 probands (43.8 %). Out of them, 86.4 % of probands carried the LDLR gene mutation and remaining 13.6 % probands carried the p.Arg3527Gln APOB mutation.

journal_name

Physiol Res

journal_title

Physiological research

authors

Gabčová D,Vohnout B,Staníková D,Hučková M,Kadurová M,Debreová M,Kozárová M,Fábryová Ľ,Staník J,Klimeš I,Rašlová K,Gašperiková D

doi

10.33549/physiolres.933348

subject

Has Abstract

pub_date

2017-03-31 00:00:00

pages

75-84

issue

1

eissn

0862-8408

issn

1802-9973

pii

933348

journal_volume

66

pub_type

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