Gene polymorphisms associated with lipid metabolism disorders in young adults with risk of sudden cardiac death
V A Kachnov , E V Kryukov , S N Kolyubaeva , G G Kutelev , V V Tyrenko
Kazan medical journal ›› 2021, Vol. 102 ›› Issue (6) : 805 -814.
Gene polymorphisms associated with lipid metabolism disorders in young adults with risk of sudden cardiac death
Aim. To study the frequency of polymorphisms in genes associated with lipid metabolism disorders in young people with risk of sudden cardiac death, to identify the relationships between gene polymorphisms and risk factors of sudden cardiac death, and to develop mathematical models to identify the probability of carrying mutations in these genes.
Methods. The study included 436 young people (mean age 19.8±1.6 years). A standard examination and survey by questionnaire specially developed by us were conducted to identify an increased risk of sudden cardiac death. 59 individuals with a risk of sudden cardiac death were selected. The control group was 65 people, which was comparable to the study group. A blood test was performed to determine lipid profile and polymorphisms: Leu28Pro (rs 429358) in gene APOE, C3238G (rs 5128) in gene APOC3, Gln192Arg (rs 662) in gene PON1, Ser447Ter (rs 328) in gene LPL, G250A (rs 1800588) in gene LIPC. Statistical analysis was performed using the statistical package SPSS 17.0 and Statistica 6.0. The parametric Kruskal–Wallis test, the Mann–Whitney U-test, the Pearson’s chi-squared test, the Spearman rank correlation coefficient, and logistic regression analysis were used.
Results. We revealed a high frequency of Gln192Arg (rs 662) polymorphism in the PON1 gene in the group of individuals at risk of sudden cardiac death and its correlation with the deaths in relatives under age 50 years. Mathematical models for predicting the presence of polymorphisms in genes associated with lipid metabolism disorders have been developed. Among the developed mathematical models, the models for identifying carriers of the minor allele of Gln192Arg polymorphism in the PON1 gene, Ser447Ter in the LPL gene, and 250 G>A in the LIPC gene had the highest sensitivity, specificity, and accuracy.
Conclusion. In persons at risk for sudden cardiac death, it is advisable to conduct a screening for mutations in genes associated with lipid metabolism disorders, especially in Gln192Arg polymorphism in gene PON1.
genes associated with lipid metabolism disorders / lipid metabolism / prevention / sudden cardiac death / prognosis / single-nucleotide polymorphism
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