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MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study.

ABSTRACT: Hyperhomocysteinemia induced by the C677T genetic variant in MTHFR (methylenetetrahydrofolate reductase) has been implicated in neuronal cell death of retinal ganglion cells (RGC), which is a characteristic feature of glaucoma. However, association of MTHFR C677T with glaucoma has been controversial because of inconsistent results across association studies. Association between MTHFR C677T and glaucoma has not been reported in Indian population. Therefore, with a focus on neurodegenerative death of RGC in glaucoma, the current study aimed to investigate association of MTHFR C677T with Primary Open Angle Glaucoma (POAG) and Primary Angle Closure Glaucoma (PACG) in a North Indian population. A total of 404 participants (231 patients and 173 controls) were included in this study. Genotyping was performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. A few random samples were also tested by direct sequencing. Genotypic and allelic distributions of the POAG and PACG cohorts were compared to that of controls by chi-square test and odds ratios were reported with 95% confidence intervals. Genotypic and allelic distributions between POAG cases and controls were significantly different (p?=?0.03 and p?=?0.01 respectively). Unlike POAG, we did not find significant difference in the genotypic and allelic distributions of C677T between PACG cases and controls (p>0.05). We also observed a higher proportion of TT associated POAG in females than that in males. However, this is a preliminary indication of gender specific risk of C677T that needs to be replicated in a larger cohort of males and females. The present investigation on MTHFR C677T and glaucoma reveals that the TT genotype and T allele of this polymorphism are significant risk factors for POAG but not for PACG in North Indian population. Ours is the first report demonstrating association of MTHFR C677T with POAG but not PACG in individuals from North India.

SUBMITTER: Gupta S

PROVIDER: S-EPMC4108368 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study.

Gupta Shashank S Bhaskar Pradeep Kumar PK Bhardwaj Ritu R Chandra Abhishek A Chaudhry Vidya Nair VN Chaudhry Prashaant P Ali Akhtar A Mukherjee Ashim A Mutsuddi Mousumi M

PloS one 20140723 7

Hyperhomocysteinemia induced by the C677T genetic variant in MTHFR (methylenetetrahydrofolate reductase) has been implicated in neuronal cell death of retinal ganglion cells (RGC), which is a characteristic feature of glaucoma. However, association of MTHFR C677T with glaucoma has been controversial because of inconsistent results across association studies. Association between MTHFR C677T and glaucoma has not been reported in Indian population. Therefore, with a focus on neurodegenerative death ...[more]

PMID: 25054348

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Project description:OBJECTIVES: The study was carried out to investigate the prevalence, risk factors, and Pregnancy outcome in anti-HCV-positives pregnant women admitted for delivery in the Department of Obstetrics & Gynecology of Guru Gobind Singh Medical College and Hospital, Faridkot between January 2010 and January 2013. SETTING: Department of obstetrics and Gynaecology of GGS Medical College and Hospital, Faridkot. MATERIAL AND METHODS: A case-control study design was selected for the study. A total of 1412 pregnant women presenting in the labor room of our hospital between January 2010 and January 2013 were subjected to anti-HCV testing by third generation ELISA. Age, parity, and gestational age-matched controls were taken from the women delivering during the same time frame who tested negative for hepatitis C. All the subjects and controls were non-reactive for HIV and HBsAg as well. Risk factors and pregnancy outcome were compared with the control group. Approval was taken from ethic committee of the institute. The women who consented to participate in the study were evaluated on the basis of a questionnaire for the presence of risk factors of hepatitis C and pregnancy outcome. Women with the known previous liver disease were excluded from the study. Data were analyzed using SPSS for Windows version 16.0. p < 0.05 was considered significant. RESULTS: Forty patients tested positive for anti-HCV antibodies among 1,412 patients subjected to anti-HCV testing during study period. 40 patients were taken as controls, who were negative for anti-HCV antibodies. Prevalence of HCV during pregnancy was 2.8 % in our study. Among the risk factors studied, previous surgery and blood transfusion were the statistically significant risk factors. There was history of previous major surgery in 16 cases versus 4 controls and was statistically significant (p value 0.002) at p < 0.05. History of blood transfusion was present in 4 versus 2 among cases and controls, respectively, and statistically significant (p value 0.004) at p < 0.05. Sexual transmission was not the risk factor as none of the spouse of the pregnant women was positive for HCV antibodies. Neonatal outcome was similar in both groups. Pregnancy complications i.e., Pregnancy-induced hypertension and antepartum hemorrhage were significantly higher in study group compared to control group. CONCLUSION: Incidence of hepatitis C virus infection in pregnancy is 2.8 %. Surgical procedures, blood transfusion, are the major risk factors for transmission. There are no identifiable risk factors in 35 % of cases. Pregnancy complications like Pregnancy-induced hypertension and antepartum hemorrhage are more common in HCV-positive mothers. Neonatal outcome is not affected. Universal screening of all pregnant women should be done for HCV as many patients may not have any risk factor.

Project description:BACKGROUND:Previous meta-analyses have explored the association between the C677T polymorphism of methyltetrahydrofolate reductase (MTHFR) and chronic kidney disease (CKD) but there were no studies with a decisive conclusion. Furthermore, the high heterogeneity among different populations is not yet interpreted. OBJECTIVES:This study used trial sequential analysis (TSA) to evaluate whether the nowadays conclusion supported by current cumulative samples. We also applied case-weighted meta-regression to explore the potential gene-environment interactions. METHODS:For the first stage of this study we conducted a case-control study involving 847 dialysis patients from 7 hemodialysis centers in Taipei during 2015 to 2018 and 755 normal controls from a health center in the Tri-Service General Hospital. The second stage combined the results from the first stage with previous studies. The previous studies were collected from PubMed, EMBASE, and Web of Science databases before January 2018. RESULTS:From the case-control study, the T allele of MTHFR C677T appeared to have a protective effect on end-stage renal disease compared with the C allele [odds ratio (OR): 0.80, 95% CI (confidence interval)?=?0.69-0.93]. However, the meta-analysis contradicted the results in Asian (OR?=?1.12, 95% CI?=?0.96-1.30). The same analysis was also applied in Caucasian and presented similar results from Asian (OR?=?1.18, 95% CI?=?0.98-1.42). The TSA showed our case-control study to be the decisive sample leading to a null association among Asian population. The high heterogeneity (I?=?75%) could explain the contradictory results between the case-control study and the meta-analysis. However, further case-weighted meta-regression did not find any significant interaction between measured factors and MTHFR C677T on CKD. CONCLUSIONS:High heterogeneities were found in both Caucasian and Asian, which caused the null relationship in meta-analysis while there were significant effects in individual studies. Future studies should further explore the high heterogeneity that might be hidden in unmeasured gene-environment interactions, to explain the diverse findings among different populations.

Dataset Information

MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study.

Publications

MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study.

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