Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry.

1Background: Polymorphisms within the MTHFR (rs2274976) and MTHFD1 (rs2236225) genes were previously associated with maternal susceptibility for having an offspring with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Brazilian population. However, as the genotypes of the patients with NSCL/P were not evaluated, it is not clear whether the effects are associated with maternal or offspring genotypes. The aim of this study was to evaluate the association of rs2274976 and rs2236225 in the pathogenesis of NSCL/P. Methods: By using the TaqMan 5 0 -exonuclease allelic discrimination assay, the present study genotyped the rs2274976 and rs2236225 polymorphisms in 147 case-parent trios, 181 isolated samples of NSCL/P and 478 healthy controls of the Brazilian population. Transmission disequilibrium test and structured case-control analysis based on the individual ancestry proportions were performed. Results: The transmission disequilibrium test showed a significant overtransmission of the rs2274976 A allele (p 5 0.004), but no preferential parent-of-origin transmission was detected. The structured case-control analysis supported those findings, revealing that the minor A allele of rs2274976 was significantly more frequent in NSCL/P group compared with control group (p 5 0.001), yielding an odds ratio of 3.46 (95% confidence interval, 2. 05-5.85). No association of rs2236225 polymorphism with NSCL/P was observed in both transmission disequilibrium test and case-control analysis. Conclusion: The results of the study revealed that the presence of the rs2274976 A allele is a risk marker for the development of NSCL/P in the Brazilian population.Birth Defects Research (Part A) 100:30-35, 2014.

The prevalence of dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

The nonsyndromic cleft lip and/or palate (NSCL/P) is a common congenital orofacial defect of multifactorial origin with involvement of genetic and nutritional factors. The presence of genetic polymorphisms in enzymes that metabolize folic acid and vitamin supplements used to prevent these anomalies have not yet been well established in the literature. The aim of this study was to conduct a review of the literature about the role of folate and gene polymorphisms in the metabolic pathway of folic acid as regards the occurrence of NSCL/P. We reviewed theoretical material that addressed data on these topics. According to the studies analyzed in the literature, there was no consensus with regard to the protective effect of supplemental folic acid taken in the periconceptional period in the prevention of NSCL/P. The studies that evaluated defects in genes involved in folate metabolism, found an association of some polymorphisms with NSCL/P in different populations.

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Object tracking simulation using neural network is described. Since control value for tracking should be determined in accordance with past state, such model is needed that can process time series. So a neuron model called "filtering neuron" is introduced. The idea is quite simple and natural : neuron with filtering synapse weight would deal with time-variant patterns well. Though this is not a new idea at all, back propagation algorithm for the network composed of filtering neurons is not introduced yet. The tracking simulation demonstrates the performance of the model, and smart tracking strategy is realized.

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