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HYPERTRIGLYCERIDEMIC GENE SCORE IN PATIENTS WITH APOE2/E2 GENOTYPE AS A POSSIBLE PREDICTOR OF FAMILIAL DYSBETALIPOPROTEINEMIA
Topic: field
Type: Presentation - doctors , Number in the programme: 46
Etický kodex:
Přednášková činnost: sanofi-aventis, Zentiva, KRKA
Šatný M.1, Altschmiedová T.1, Todorovová V.1, Vrablík M.1, Kyselák O.2, Soška V.2, Hubáček J.3

1 3. IK VFN, VFN v Praze, Praha, 2 II. IK, FNUSA, Brno, 3 CEM, IKEM, Praha


Introduction: Familial dysbetalipoproteinemia (FD) is an autosomal recessive (rarely dominant) inherited disorder that is almost exclusively associated with the apolipoprotein E gene (APOE).However, only a small proportion of patients with the typical APOE2/E2 genotype develop phenotype - the mixed dyslipidemia (DLP) - in the context of other metabolic or as yet undescribed genetic factors.
Methods: We screened 71 FD patients and 90 controls (all APOE2/E2 homozygotes, according the rs429358) for 18 single nucleotide polymorphisms (SNPs) in genes involved in triglyceride metabolism.

Results: Two SNPs were significantly associated with the FD phenotype (rs439401 within APOE and rs964184 within APOA5). An unweighted gene risk score (GRS; sum of risk alleles) was analysed as a genetic predictor of FD development in patients with the APOE2/E2 baseline genotype. The unweighted GRS constructed from the 5 strongest SNPs (within the APOE, APOA5, CFT1, LPL, and TYW1B genes) reliably discriminated between FD and controls (OR 4.97; CI (2.24-11.06), P < 0.00003).
Conclusions: Several SNPs, i.e., individual additive genetic factors, were found to influence the development of FD. Thus, unweighted GRS clearly improves the prediction of FD development in APOE2/E2 homozygotes.