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.
Pediatric Cardiology "Círculo do Coração" Network (CirCor), Recife, Brazil.
Mol Biol Rep. 2020 Nov;47(11):8545-8552. doi: 10.1007/s11033-020-05897-3. Epub 2020 Oct 15.
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.
NOS3 基因的 T-786C、G894T 和 VNTR 4b/a 多态性与代谢综合征（MetS）的易感性有关。NOS3 基因有助于正常妊娠和胎儿发育。根据出生体重，新生儿可分为：小于胎龄儿（SGA）、适于胎龄儿（AGA）或大于胎龄儿（LGA）。SGA 和 LGA 出生的新生儿在儿童期和成年期都有更高的患代谢综合征相关疾病的风险。因此，本工作的目的是研究 G894T、T-786C 和 VNTR 4b/a 多态性与 SGA 和 LGA 新生儿及其母亲的相关性。从 102 名母亲和 102 名新生儿（SGA=12；AGA=47；LGA=43）的脐带中采集了 204 个血液样本。通过 PCR-RFLP 进行基因分型，以评估 G894T、T-786C 和 VNTR 4b/a 多态性的存在。在新生儿组中，T-786C 的基因型频率存在显著差异，但不符合 Hardy-Weinberg 平衡。VNTR 4b/a 和 G894T 多态性在各组之间无显著性差异。单体型分析显示，SGA 新生儿 4aGT（9.8%）和 4aTT 组合（25.4%）的频率较高，而 LGA 新生儿 4bTT 单体型（23%）的频率较高。只有 SGA 新生儿及其母亲出现 4aTC 单体型。综上所述，NOS3 多态性似乎不是导致出生体重不足的因素。然而，G894T 和 VNTR 4b/a 多态性以及单体型 4aTC 似乎影响 SGA 的发生。
