The incidence of NOS3 gene polymorphisms on newborns with large and small birth weight
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ORIGINAL ARTICLE
The incidence of NOS3 gene polymorphisms on newborns with large and small birth weight Thaysa Walléria de Aragão Santos1 · Andriu dos Santos Catena1 · Sandra da Silva Mattos2 · José Luiz de Lima Filho1 · Danyelly Bruneska Gondim Martins1,3 Received: 11 August 2020 / Accepted: 3 October 2020 © Springer Nature B.V. 2020
Abstract The NOS3 gene polymorphisms T-786C, G894T and VNTR 4b/a are associated with a predisposition to the development of Metabolic Syndrome (MetS). The NOS3 gene contributes to a normal pregnancy and fetal development. According to their birthweight, newborns can be classified as: small (SGA), adequate (AGA) or large (LGA) for gestational age. The SGA and LGA present a higher risk of developing disorders related to MetS, both during childhood and adulthood. Therefore, the aim of this work is to relate the incidence of G894T, T-786C and VNTR 4b/a on SGA and LGA newborns and their mothers. 204 blood samples were collected from mothers (102) and the umbilical cords of 102 newborns (SGA = 12; AGA = 47; LGA = 43). The genotyping was performed through PCR–RFLP to evaluate presence of the G894T, T-786C and VNTR 4b/a polymorphisms. A significant difference was found between the groups of newborns in the genotypic frequency of T-786C, but without Hardy–Weinberg equilibrium. The VNTR 4b/a and the G894T polymorphisms showed no significance between the groups. The haplotype analysis showed that the SGA newborns presented the higher frequency of 4aGT (9.8%) and of the 4aTT combination (25.4%), while LGA newborns presented the higher frequency of the 4bTT haplotype (23%). Only the SGA newborns and their mothers presented the 4aTC haplotype. In conclusion, the NOS3 polymorphisms do not appear to be a factor to inadequate birth weight. However, the G894T and VNTR 4b/a polymorphisms, and the haplotype 4aTC, seem to influence the occurrence of SGA. Keywords Metabolic syndrome · Newborn · NOS3 polymorphism Abbreviations NO Nitric oxide NOS Nitric oxide synthase eNOS Endothelial nitric oxide synthase nNOS Neuronal nitric oxide synthase iNOS Inducible nitric oxide synthase HWE Hardy–Weinberg equilibrium SGA Small for gestational age
AGA Adequate for gestational age LGA Large for gestational age MetS Metabolic syndrome BMI Body mass index CVD Cardiovascular diseases T2DM Type 2 diabetes mellitus SNPs Single nucleotide polymorphisms VNTR Variable number of tandem repeats
* Thaysa Walléria de Aragão Santos [email protected]
Introduction
1
Molecular Prospection and Bioinformatics Group (ProspecMol), Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Avenue Professor Moraes Rego, 1235, Cidade Universitária, Recife, Pernambuco 50670‑901, Brazil
2
Pediatric Cardiology “Círculo do Coração” Network (CirCor), Recife, Brazil
3
Biochemistry Department, Federal University of Pernambuco (UFPE), Recife, Brazil
Cardiovascular diseases (CVD) are complex disorders that have recently shown a steep growing curve of occurrence, beco
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