ASSOCIATION BETWEEN VITAMIN D-BINDING PROTEIN (VDBP) GENE POLYMORPHISM AND VITAMIN D STATUS IN YOUNG CHILDREN

Object of the research: VDBP gene polymorphism. Problem being addressed: the effect of existing polymorphic variants of the VDBP gene on the absorption of vitamin D in young children. The main scientific results. At the beginning of the survey, vitamin D supplementation was performed in 50.0±9.1 % (15/30) of children. The concentration of 25 (OH) D in the serum of the subjects was 32.9 ng/ml (23.2–60.0). All patients with the GG rs 7041 genotype of the VDBP gene had a concentration of 25 (OH) D in the range of 20-100 ng/ml, which is statistically more common than in children with the AA rs 4588 genotype (p=0.015), GT rs 7041 genotype (p=0.047) and genotype TT rs 7041 (p=0.033). Patients with CA rs 4588 genotypes – 23.7 ng/ml (14.8-35.8) and GT rs 7041 – 28.1 ng/ml (17.1–49) had the lowest serum levels of 25 (OH) D, the highest levels of 25 (OH) D – children with genotype AA rs 4588 – 122.6 ng/ml (23.2–124.1) and genotype TT rs 7041 – 78.6 ng/ml (23.2 –124.1). Carriers of the AA rs 4588 genotype were more likely than patients with the GG rs 7041 genotype to show dangerously high levels of 25 (OH) D (p=0.069). Patients with the AA rs 4588 genotype had lower alkaline phosphatase levels compared to the GT rs 7041 and CC rs 4588 genotypes – 185.0 U/l (147.0–212.0) versus 259.5 U/l (207.0–334.5), p=0.021 and against 251.0 U/l (222.0–346.0), p=0.016. Area of practical application of research results: The results of the study can be used by working groups to make recommendations for the prevention and treatment of vitamin D deficiency and in the practice of health care facilities. Innovative technological product: association between allelic variants of the VDBP gene and vitamin D status in young children. Scope of application of innovative technological product: pediatrics, medical genetics. Conclusions. Genetic variants of VDBP may affect the absorption of vitamin D and cause variability in 25 (OH) D levels, which complicates the development of uniform recommendations for optimal prophylactic doses of vitamin D and necessitates additional research. The highest levels of 25 (OH) D were recorded in children with genotypes AA rs 4588 and TT rs 7041 of the VDBP gene, which showed high absorption when taking vitamin D supplements at a dose of 500 IU and even excessive concentrations of 25 (OH) D with long-term supplementation in higher dose

Polimorficzne warianty genów MTHFR C667T oraz PAI-1 5G/4G oraz ich kombinacje w grupie dzieci z udarem niedokrwiennym mózgu

Introduction. Arterial ischemic stroke (AIS) in childhood is a disorder associated with different predisposing factors, thrombophilia is one of them. We present the study of the MTHFR C677T and PAI-1 5G/4G gene polymorphisms as a possible risk factor for the development of AIS in the group of Ukrainian children. Materials and methods. 77 children from 29 days to 15 years of age were involved in this study: study group - 44 children with AIS, and 33 in a control group. Children enrolled to both groups were at similar age. Results. In the study group there was an increase in the frequency of genotypes 677CT (OR = 2.69) and 677TT, CT + TT genotypes (OR = 3.67) of the MTHFR gene, increased frequency of the 677T allele (OR = 2.57). In the study group detection of 5G/5G + 5G/4G genotypes was higher (OR = 2.82) with statistically predominance of the 5G allele (OR = 2.26) of the gene PAI -1. Higher frequency of the combination of genotypes genes 677CT + 5G/5G was found in the main group. The model of interpreting interactions was built, it allows to predict indirectly the potential intergenic interactions. Conclusions. We conclude that risk of AIS is higher in children with polymorphic variants 677CT and 677TT for the MTHFR gene; the association of polymorphic variants 5G/4G and 5G/5G for the PAI-1 gene with a decrease in the risk of developing AIS; direct interaction with the MTHFR was found for PAI-1, but of weak strengthWstęp: Udar niedokrwienny (AIS) jest rzadkim schorzeniem wieku dziecięcego, które wiąże się z różnymi czynnikami predysponującymi. Trombofilia jest jedną z ustalonych predyspozycji genetycznych do udaru w populacji pediatrycznej. Cel: Przedstawiamy badanie polimorfizmów genów MHFR C677T i PAI-1 5G / 4G jako potencjalnego czynnika ryzyka rozwoju AIS indywidualnie i łącznie w grupie dzieci ukraińskich. Materiał i metody Badaniem objęto 77 dzieci w wieku od 29 dni do 15 lat: grupa badana - 44 dzieci z AIS oraz grupa kontrolna - 33 dzieci zakwalifikowanych do obu grup znajdowały się w podobnym wieku. Wyniki: W badanej grupie stwierdzono większą częstość genotypów 677CT (OR = 2,69) i 677TT, genotypów CT + TT (OR = 3,67) genu MTHFR oraz większą częstość allelu 677T (OR = 2,57). W analizowanej grupie wykrywalność genotypów 5G / 5G + 5G / 4G była wyższa (OR = 2,82) przy statystycznej przewadze allelu 5G (OR = 2,26) genu PAI -1. Ponadto w analizowanej grupie pacjentów stwierdzono większą częstość kombinacji genotypów 677CT + 5G / 5G w porównaniu z grupą kontrolną. Wnioski: Uzyskane wyniki badań pozwalają na stwierdzenie, że ryzyko wystąpienia AIS u dzieci jest wyższe w przypadku obecności polimorficznych wariantów 677CT i 677TT dla genu MTHFR; z kolei skojarzenie wariantów polimorficznych 5G / 4G i 5G / 5G dla genu PAI-1 wiąże się ze zmniejszonym ryzykiem rozwoju AIS. Stwierdzono także występowanie bezpośredniej interakcji MTHFR z PAI-1, jednak o małej sile oddziaływania