Influence of <i>MBL2</i> and <i>NOS3</i> polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Silva, Lícia Vasconcelos Carvalho da; Javorski, N.R.; Brandão, Lucas André Cavalcanti; Lima, Marília de Carvalho; Crovella, Sérgio; Eickmann, Sophie Helena

doi:10.1080/14767058.2018.1487938

Cited by 10 publications

(6 citation statements)

References 40 publications

(61 reference statements)

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“…Interestingly, data concerning association of the MBL2 gene [encoding mannose-binding lectin (MBL), structurally and functionally related to ficolins] polymorphisms with preterm birth are contradictory. Several reports suggested MBL deficiency to be a risk factor [ 20 , 21 , 22 ]. In contrast, Swierzko et al [ 15 ] found high MBL concentration/activity-conferring genotypes to be associated with prematurity.…”

Section: Discussionmentioning

confidence: 99%

Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates

Szala-Poździej

Swierzko

Gajek

et al. 2022

IJMS

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Single nucleotide polymorphisms (SNPs) localised to the promoter region of the FCN2 gene are known to influence the concentration of ficolin-2 in human serum and therefore potentially have clinical associations. We investigated the relationships between SNPs at positions −986 (A > G), −602 (G > A), −64 (A > C) and −4 (A > G) and clinical complications in 501 preterms. Major alleles at positions −986 and −64 and A/A homozygosity for both polymorphisms were less frequent among babies with very low birthweight (VLBW, ≤1500 g) compared with the reference group (OR = 0.24, p = 0.0029; and OR = 0.49, p = 0.024, respectively for A/A genotypes). A lower frequency of G/G homozygosity at position −4 was associated with gestational age <33 weeks and VLBW (OR = 0.38, p = 0.047; and OR = 0.07, p = 0.0034, respectively). The AGAG haplotype was protective for VLBW (OR = 0.6, p = 0.0369), whilst the GGCA haplotype had the opposite effect (OR = 2.95, p = 0.0249). The latter association was independent of gestational age. The AGAG/GGAA diplotype favoured both shorter gestational age and VLBW (OR = 1.82, p = 0.0234 and OR = 1.95, p = 0.0434, respectively). In contrast, AGAG homozygosity was protective for lower body mass (OR = 0.09, p = 0.0155). Our data demonstrate that some FCN2 variants associated with relatively low ficolin-2 increase the risk of VLBW and suggest that ficolin-2 is an important factor for fetal development/intrauterine growth.

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Section: Discussionmentioning

confidence: 99%

Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates

Szala-Poździej

Swierzko

Gajek

et al. 2022

IJMS

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“…eNOS is an enzyme which synthesizes nitric oxide (NO) via catalyzing the conversion of L-arginine to L-citrulline. The literature data suggest that NOS3 gene polymorphisms may be a risk factor for various pregnancy complications [41,42]. NO is a pleiotropic vasodilatator molecule that has antiatherogenic effect by inhibiting platelet aggregation, antagonizing smooth muscle cell proliferation, and suppressing leukocyte adhesion to endothelium [43].…”

Section: The Genetic and Molecular Basis Of Major Pregnancy Disordersmentioning

confidence: 99%

“…During pregnancy NO plays a significant role in endothelial function regulation, blood pressure control, and cardiovascular homeostasis, glucose metabolism and insulin resistance [41]. The reduced NO production may predispose to pregnancy-related vascular disorders, including PE, PA, recurrent spontaneous abortion, PTB, and complications induced by GDM [42,43]. On the other hand, alterations in the NO synthesis may affect the mediation mechanisms of the inflammatory response and regulation of uterine contractility and possibly contributing to the onset of premature labor [42].…”

Section: The Genetic and Molecular Basis Of Major Pregnancy Disordersmentioning

confidence: 99%

“…The reduced NO production may predispose to pregnancy-related vascular disorders, including PE, PA, recurrent spontaneous abortion, PTB, and complications induced by GDM [42,43]. On the other hand, alterations in the NO synthesis may affect the mediation mechanisms of the inflammatory response and regulation of uterine contractility and possibly contributing to the onset of premature labor [42]. Additionally, it has shown that miR-335 suppresses the migration and invasion of trophoblast cells in PE by regulation of NOS3 [44].…”

Section: The Genetic and Molecular Basis Of Major Pregnancy Disordersmentioning

confidence: 99%

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A Data-Driven Review of the Genetic Factors of Pregnancy Complications

Barbitoff

Tsarev

Vashukova

et al. 2020

IJMS

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Over the recent years, many advances have been made in the research of the genetic factors of pregnancy complications. In this work, we use publicly available data repositories, such as the National Human Genome Research Institute GWAS Catalog, HuGE Navigator, and the UK Biobank genetic and phenotypic dataset to gain insights into molecular pathways and individual genes behind a set of pregnancy-related traits, including the most studied ones—preeclampsia, gestational diabetes, preterm birth, and placental abruption. Using both HuGE and GWAS Catalog data, we confirm that immune system and, in particular, T-cell related pathways are one of the most important drivers of pregnancy-related traits. Pathway analysis of the data reveals that cell adhesion and matrisome-related genes are also commonly involved in pregnancy pathologies. We also find a large role of metabolic factors that affect not only gestational diabetes, but also the other traits. These shared metabolic genes include IGF2, PPARG, and NOS3. We further discover that the published genetic associations are poorly replicated in the independent UK Biobank cohort. Nevertheless, we find novel genome-wide associations with pregnancy-related traits for the FBLN7, STK32B, and ACTR3B genes, and replicate the effects of the KAZN and TLE1 genes, with the latter being the only gene identified across all data resources. Overall, our analysis highlights central molecular pathways for pregnancy-related traits, and suggests a need to use more accurate and sophisticated association analysis strategies to robustly identify genetic risk factors for pregnancy complications.

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“…That finding was later partially confirmed by Carvalho da Silva et al. ( 83 ) who genotyped neonates and their mothers. They found maternal/neonatal LYA haplotypes to be associated with preterm birth and the LYB haplotype to be protective.…”

Section: Clinical Associations Of Collectins In the Neonatementioning

confidence: 53%

Collectins and ficolins in neonatal health and disease

Cedzyński,

Świerzko

2023

Front. Immunol.

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The immune system starts to develop early in embryogenesis. However, at birth it is still immature and associated with high susceptibility to infection. Adaptation to extrauterine conditions requires a balance between colonization with normal flora and protection from pathogens. Infections, oxidative stress and invasive therapeutic procedures may lead to transient organ dysfunction or permanent damage and perhaps even death. Newborns are primarily protected by innate immune mechanisms. Collectins (mannose-binding lectin, collectin-10, collectin-11, collectin-12, surfactant protein A, surfactant protein D) and ficolins (ficolin-1, ficolin-2, ficolin-3) are oligomeric, collagen-related defence lectins, involved in innate immune response. In this review, we discuss the structure, specificity, genetics and role of collectins and ficolins in neonatal health and disease. Their clinical associations (protective or pathogenic influence) depend on a variety of variables, including genetic polymorphisms, gestational age, method of delivery, and maternal/environmental microflora.

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Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Cited by 10 publications

References 40 publications

Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates

Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates

A Data-Driven Review of the Genetic Factors of Pregnancy Complications

Collectins and ficolins in neonatal health and disease

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