Figure 3 - uploaded by Marie Tolarova
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A, B, C. Sequenograms of CC, TT, and CT genotypes. CC = homozygote with wild type alleles (shown as GG on the sequenogram). TT = homozygote with mutated alleles (shown as AA on the sequenogram). CT = heterozygote with one mutated (T) and one wild (C) allele (shown as GA on the sequenogram). A= Adenine, C = Cytosine, G = Guanine, T = Thymine.
Source publication
Introduction: Nonsyndromic cleft lip with or without cleft palate (NCL/P) is a common orofacial anomaly with a multifactorial etiology. The genetic component of NCL/P etiology is complex with multiple genes involved. The transforming growth factor beta 3 (TFGβ3) is among the strong susceptibility genes that have been shown to be involved in morphog...
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Despite the increased focus on the role of calcium in the neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease), links between calcium signalling and the proteins associated with the disease remain to be identified. A central protein in calcium signalling is calmodulin (CaM), which regulates many of the same cellular processes affecte...
The neuronal ceroid lipofuscinoses (NCLs) are a group of devastating neurological disorders that have a global distribution and affect people of all ages. Commonly known as Batten disease, this form of neurodegeneration is linked to mutations in 13 genetically distinct genes. The precise mechanisms underlying the disease are unknown, in large part...
Citations
... [9] Interestingly, studies in ethnically contrasting populations have verified positive findings between TGFB3 gene alterations and non-syndromic cleft lip with or without cleft palate (NSCL/P). [10,11] Most of these studies have been performed in white and Asian populations, thus reflecting the heterogeneity of the cleft phenotype as well as variability in environmental risk factors. [10][11][12] Similarly, it has been verified that the fibroblast growth factors (FGFs) and its receptors play a crucial role through the regulation of cell proliferation, differentiation, and motility which are necessary for the development of the palate and upper lip. ...
... [10,11] Most of these studies have been performed in white and Asian populations, thus reflecting the heterogeneity of the cleft phenotype as well as variability in environmental risk factors. [10][11][12] Similarly, it has been verified that the fibroblast growth factors (FGFs) and its receptors play a crucial role through the regulation of cell proliferation, differentiation, and motility which are necessary for the development of the palate and upper lip. [13] Mutations in the genes coding these molecules have been shown to contribute significantly to the development of syndromic orofacial clefts, such as Apert syndrome. ...
... [15] However, no single candidate gene has been consistently identified in all studies. [10][11][12][13][14][15] erefore, the present study aims to perform a systematic review of the possible association between polymorphisms in TGFB3 and FGFs genes and NSCL/P. ...
Objectives
The objective of this study was to conduct a systematic review of the possible association between transforming growth factor B3 (TGFB3) and fibroblast growth factors (FGFs) gene polymorphisms and nonsyndromic cleft lip with or without cleft palate (NSCL/P).
Material and Methods
Two reviewers independently screened studies by examining all titles and abstracts. Studies were included if they met the following criteria: The outcome of interest was NSCL/P; the polymorphisms studied were TGFB3 and FGF; they presented sufficient data, that is, allele/genotype frequency between cases and controls; or their odds ratio with 95% confidence interval. Study quality was independently assessed by a risk of bias assessment for genetic association studies.
Results
Based on the inclusion criteria, we have selected a total of six articles (four for TGFB and two for FGF). Particularly for the TGFB gene, we have found significant results in exon 4 in the variant g.15812T>G, and in the single-nucleotide polymorphisms rs2300607 A/T, in the distribution between cases and controls. On the other hand, for the FGF gene, we observed a statistically significant in the genotype rs34010 CA.
Conclusion
None of the genetic variations that show the association is verified in different populations; therefore, there is not enough scientific validation regarding the association between TGFB and FGF polymorphism and NSCL/P. The findings of the different studies suggest the need for further investigations with samples composed of a larger number of individuals in different populations, which should be performed with all the standards for genetic studies, thus allowing an understanding of the molecular basis of the disease.
