MTHFR gene polymorphisms as risk factors for colorectal cancer among Egyptian patients

Polymorphisms in methylenetetrahydrofolate reductase [MTHFR], such as MTHFR C677T and A1298C, are associated with several cancers. This study aimed to evaluate the effects of MTHFR polymorphisms on colorectal cancer risk in a population from damitta Egypt. This hospital-based case-control study was conducted during 2008-2010; 64 colon cancer cases and 90 controls were enrolled. Information was collected and blood samples were obtained for assay of MTHFR C677T and A1298C polymorphisms by polymerase chain reaction-single strand conformation polymorphism [PCR-SSCP] and PCR-restriction fragment length polymorphism [PCR-RFLP] techniques. Associations between variables of interest and colorectal cancer were assessed using conditional logistic regression. Increased risk of colorectal cancer was associated with the MTHFR C677 TT genotype of C677T polymorphism [OR [adj] = 24.0; 95% CI: 1.34-429.1; P value for interaction = 0.001]. The 1298AC genotype and C allele was associated with a statistically significant lower risk among subjects [OR, 3.85; 95% CI, 1.78-8.33; P value for interaction=.0005 and OR, 1.88; 95% CI, 1.16-3.059 P value for interaction=0.01], respectively. MTHFR 1298 AA genotype and A allele was found to be associated with a significantly decreased risk for colorectal cancer [OR = 0.25, 95% CI 0.11-0.52; P value for interaction= 0.0005 and OR = 0.52, 95% CI 0.32-0.85 P value for interaction= 0.01and], respectively. There was no clear relation between colorectal adenomas and those with the 1298 CC genotype. The combined CC, AA [corrected] genotypes and the CT+AA [corrected] genotypes and the TT+ AC were associated with a statistically significant lower risk for developing colorectal cancer [P value for interaction= 0.03, 0.02, 0.001], respectively. The findings suggest an interaction between the MTHFR genotype and colorectal adenomas among Egyptian patients

Genetic analysis of rheumatic fever among Egyptian families: consanguinity pattern, segregation analysis and blood group association

To assess genetic background of Rheumatic Fever [RF] among Egyptian families and to test for association to blood group allelic phenotypes. This study was done on 30 Egyptian rheumatic families of which 10 were mutiplex; enrolled from Pediatric Cardiology Clinic, Mansoura University Hospital. Subjects included 30 probands and 1142 relatives of different degrees; they were classified clinically into 46 cases with RF, 136 subjects with recurrent Upper Respiratory Infection [URTI] and/or arthralgia and the remainders were irrelevant. Diagnosis of RF was based on Jones criteria. Pedigree analysis with stress on consanguinity, positive family history of RF and definite recurrent URTI. Nine blood group systems were analyzed for probands including; ABO, Rh, MNS, Kell, Lutheran, Lewis, Kidd, Duffy, P1 and individual secretor status. In rheumatic families consanguinity and inbreeding were higher than control [53.3%, 0.015]. Segregation analysis suggested multifactorial inheritance for RF with mean heritability [30%] whereas recurrent URTI followed recessive inheritance. Some alleles and phenotypes were of higher incidence in probands compared to control; alleles se [non-secretor], D, Jka+ and phenotypes Lu [a-b-], Le [a-b-] and Fy [a-b-] were of higher frequency, whereas alleles Se [secretor], A, B, Kp a+, Lu b+, Le b+, Fy a+, Fy b+ and phenotypes Fy [a+ b+], Sese or SeSe [secretor] were less frequent. Based on the inherited susceptibility to respiratory infection, RF is a genetic disease with multifactorial inheritance. Blood group systems on chromosome 19 could mark hot spots for further linkage and gene mapping

Assessment of the role of blood group systems and three DNA loci [ALU TPA-25, Humfes / Fps and HuMf 13A1] in paternity testing in a sample of Egyptian population

A panel of 10 genetic markers has been applied for paternity testing in 51 Egyptian families. The panel included 7 blood group system [ABO, Rh, MNSs, Duffy, Lewis, Kell, and Kidd], and 3 DNA loci [Alu RPA - 25, HUMFES / FPS, and HUMF13A1]. The trio in each family consisted of the mother, the child, and the legal or alleged father. The families were studied as 3 groups of statistical significance: The 1st 40th family group in which paternity of legal fathers was tested despite the lack of any suspicion of paternity dispute [expected low probability of disputed paternity], the 41st - 51st family group in which paternity of legal fathers was tested due to strong suspicion paternity dispute [expected higher probability of disputed paternity], and the 1st - 51st family group in which paternity of 10 known foreign men [to represent alleged father with 100% true paternity dispute] was randomly tested in the 51 families of the study. The study included determination of blood groups by the agglutination method, and analysis of DNA loci by aggarose gel electrophoresis after DNA extraction and amplification by polymerase chain reation. Exclusion of paternity was concluded from the knowledge of modes of inheritance of the study markers, and probability of paternity [inclusion of paternity] was calculated from the studied gene freqencies after gene typing of the study population. Results of the study showed that the DNA loci were better than blood group systems in exclusion and inclusion of paternity, though both failed to exclude all the alleged fathers or to give reliable values of probability of paternity. The Lewis, Kell, and Kidd blood groups were nearly of no value in paternity testing whereas the polymorphic DNA loci [HUMFES / FPS and HUMF13A1] provided the best result. Some true disputed fathers were excluded by single markers only, raising the importance of such exclusion which should be considered seriously and cautiously and cautiously. Its reliabilityy should be scrutinized, abd it may be necessary to examine more markers. It has been concluded that the study panel of 10 genetic markers was not adequate in excluding or proving paternity for all test cases, and that the polymorphic markers provide better results in paternity testing. In a certain population, paternity testing should rely upon adequate number of the most valuable genetic markers, and regulatory rules regarding reliable paternity exclusion or inclusion or inclusion parameters are mandatory, as well as strict application of quality control parameters to the concerned laboratories