Background: Genetic risk factors play an important role in neurological disorders. In this case-control study, we examined the C677T polymorphism (rs1801133) in the Methylenetetrahydrofolate reductase (MTHFR) gene and its association with three neurodegenerative disorders: The late onset pathology, Alzheimer disease and two early onset ones, Autism and Down syndrome. New evidence suggests that autism may be associated with varied behavioural responses to folate therapy and metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesis that, MTHFR C677T mutation may be the underlying common risk factor in various neurological disorders leading to impaired one carbon metabolism resulting in similar and severe neuropsychological symptoms. Hence our objective was to evaluate MTHFR C677T polymorphism in different Neurological disorders and compare it with age-matched healthy controls.Method: This case-control study was carried out on 200 samples which included 100 patients with different neurological disorders and 100 healthy individuals without any neurological problems taken as the control group. MTHFR polymorphism was assessed by PCR-RFLP. Results:Results indicated that the C677T MTHFR polymorphism was not significantly different between controls of younger and older age groups. Among the three neurological disorders studied the T allele was associated with autism (TT+CT vs. CC; OR=4.472, 95% CI: 1.605-12.799, p<0.002), but not with the other two conditions. Conclusion:In conclusion, despite the smaller sample size, the C677T polymorphism of MTHFR plays a role in some complex neurodevelopmental disorders and not in others.
Background. Cleft lip and palate (CLP) is a common congenital anomaly. Many genes, like MAPK4 andSOX-1OT, are associated with its etiology in different populations. High-risk markers on these genesreported in other populations were not studied in our population. Hence, the study aimed to determinethe association of MAPK4 and SOX-1OT polymorphisms in CLP in multiplex families. Methods. Based on inclusion and exclusion criteria, we selected 20 multiplex CLP families for thiscase‒control study, in which the affected individuals and healthy controls selected from these familieswere compared. Fifty subjects affected with cleft and 38 unaffected subjects were included in the study.The polymorphisms studied for the association consisted of rs726455 and rs2969972 in the genes SOX-1OT and MAPK4, respectively. DNA was isolated and sent for genotyping using the MassArray method.Plink, a whole-genome association analysis toolset, was used for statistical analysis. Results. Both polymorphisms followed Hardy–Weinberg equilibrium. The rs726455 of SOX-1OTyielded a P-value of 0.983 and an allelic odds ratio (OR) of 0.983. For rs2969972 of MAPK4, the P-valuewas 0.04 (significant), and the allelic OR was 0.51. Minor allele frequency (MAF) in the unaffectedsubjects was more than the MAF in the affected subjects for rs2969972. Conclusion. The results suggested that polymorphism rs726455 on SOX-1OT was not associated withfamilial cases of CLP. Since MAF in the unaffected subjects was more than the MAF-affected subjects,rs2969972 on MAPK4 is protective in the multiplex families.
Background: Cancer of the uterine cervix is preventable and early detection is key to its cure. Screening methods for cervical cancer are available, however, the centres offering to screen are inadequate. The main obstacle for the success of screening efforts in women is the lack of awareness, hence a stigma about the screening procedure and the disease, not just in rural areas but also in a large group of the urban and semi-urban population. The purpose of this manuscript is to share our experiences during health camps conducted for screening women for cervical cancer, strategies adopted, leading to better compliance and complete evaluation in these women. Design and Methods: Health camps were organized for women's screening and we observed a steady improvement in their participation over a period of time, at rural and peri-urban areas close to the Hyderabad. Creating awareness, training para-medical staff, involving local voluntary bodies for conducting Pap testing and HPV subtyping, gave us optimal leads to manage these patients appropriately and recommend a suitable follow-up. Results and Conclusion: Taking a lead from studies like this and others, conducting national screening programs along with counselling for awareness of such tests and their implications to maintain good health, the burden of cervical cancer can be reduced in India.
Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP. Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families. Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK. Results Polymorphisms followed the Hardy–Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs. Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.
BACKGROUND: Cleft lip palate is a common congenital anomaly with multifactorial etiology. Many high-risk markers at different loci were reported to be involved in its etiology. Advanced genetic research led to the discovery of evidence of a new linkage on 13q33.1-34 region at marker rs1830756 in two multigenerational Indian families. However, no further study was reported to confirm or validate this linkage in other families. Hence, the present study was designed.METHODS: Twenty multigenerational families affected by non-syndromic cleft lip palate were selected for the study. Polymorphisms, rs1830756, rs1323672, rs1935135 of FAM155A gene; rs1961495, rs953386, rs1411040 of COL4A1 gene; and rs726449, rs984300 of MYO16 gene were selected. Genomic DNA was isolated and sent for genetic analysis by single nucleotide polymorphism (SNP) genotyping using the MassArray method. Statistical analysis of the genomic data was done by PLINK. Bonferroni correction was applied and haplotype analysis was done using Haploview software.RESULTS: Polymorphisms followed the Hardy Weinberg Equilibrium. In the allelic association, all the polymorphisms analysed showed no statistical significance. Hence, there was no significant difference in the allelic frequencies between non-syndromic cleft lip palate patients and healthy controls. The odds ratio was not more than 1.6 for all the SNPs. Haplotype analysis showed that haplotypes were not significantly higher in non-syndromic cleft patients than in control subjects.CONCLUSION: There is no association between SNPs analysed in the locus 13q33.1-34 with cleft lip palate.KEYWORDS: cleft lip palate, chromosome, polymorphism
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.