Polymorphisms in oxidative pathway related genes and susceptibility to inflammatory bowel disease

AIM To investigate whether common variants in the oxidative pathway genes influence inflammatory bowel disease(IBD) risk among Moroccan patients. METHODS The distribution of(TAAA)n_rs12720460 and(CCTTT)n_rs3833912 NOS2 A microsatellite repeats, HIF-1 A_rs11549467 and NFKB1-94 ins/delA TTG_rs28362491 was analyzed in 507 subjects grouped in 199 IBD and 308 healthy controls. Genotyping was performed withpolymerase chain reaction-fluorescent method and the TaqMan~? allelic discrimination technology.RESULTS The allele and genotype frequencies of HIF1 A_ rs11549467, NFKB1_rs28362491 and NOS2 A_(TAAA)n did not differ significantly between patients and controls. Analysis of NOS2 A_(CCTTT)n markers evidenced differences between patients and healthy controls. A preferential presence of the(CCTTT)8(P = 0.02; OR = 1.71, 95%CI: 1.07-2.74),(CCTTT)14(P = 0.02; OR = 1.71, 95%CI: 1.06-2.76) alleles in IBD,(CCTTT)8(P = 0.008; OR = 1.95, 95%CI: 1.17-3.23) in CD and(CCTTT)7(P = 0.009; OR = 7.61, 95%CI: 1.25-46.08),(CCTTT)11(P = 0.05; OR = 0.51, 95%CI: 0.25-1.01),(CCTTT)14(P = 0.02; OR = 2.05, 95%CI: 1.07-3.94),(CCTTT)15(P = 0.01; OR = 2.25, 95%CI: 1.16-4.35) repeats in UC patients indicated its possible association with higher disease risk which need to be confirmed in a larger sample size. CONCLUSION Our results suggest that the NOS2 A_(CCTTT)n gene variations may influence IBD susceptibility in the Moroccan population.

Updating Genetics Polymorphisms of Non-Syndromic Clefts Lip-Palates

Introduction: Non-Syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of environmental and genetic factors. This paper provides a review of recent progress in defining the genetic causes of NSCLP. Methods: A literature review was conducted on the Medline data by searching for the following keywords: genes, non-syndromic cleft lip-palate, and genetics of clefts lip-palates, until January 2018. Results: Various genes are identified in different population and country, with the study using case parent’s trio. The aim of this study contributes to review relative gene which has been identify in non-syndromic cleft lip and palate, and to help to have a better understanding of the inheritance pattern of this pathology and the prevention of genetic disease. Conclusion: Although three major genes have been confirmed, the genetic research is necessary to provide an understanding of the pathophysiology of the clefts lip-palates.

Synergistic effect of MTHFR C677T and F2 G20210A polymorphisms on ischemic stroke

The predisposition to stroke might involve interactive effects among variants in several genes.We tested this hypothesis by examining the influence of polymorphisms in methylenetetrahydrofolate reductase（MTHFR）（C677T） and prothrombin（F2）（G20210A） as risk factors for stroke in Morocco.The polymerase chain reaction-restriction fragment length polymorphism methods were used to analyze DNA from 91 stroke patients and 182 controls.Association between the two polymorphisms and the risk of stroke was estimated by four-level models for the analysis of genetic interaction.Neither the MTHFR 677TT nor the F2 20210GA genotype showed any significant association compared to the MTHFR CC and F2 GG genotypes,respectively.An interactive effect between the MTHFR 677TT and F2 20210GA polymorphisms showed an increased risk of stroke.The odds ratios,in univariate and multivariate analysis,for the combined polymorphisms were 4.99（95% CI,1.75–14.2,P = 0.001） and 5.29（95% CI,1.63–17.1,P = 0.005）,respectively.