ABSTRACT
Mutations in NPHS1 can lead to disruption of the filtration barrier and cause proteinuria in nephrotic syndrome (NS). The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel.
Subject(s)
Genetic Predisposition to Disease , Membrane Proteins/genetics , Nephrotic Syndrome/genetics , Proteinuria/genetics , Child , Child, Preschool , Female , Genetic Association Studies , Humans , Infant , Male , Mutation , Nephrotic Syndrome/complications , Nephrotic Syndrome/pathology , Phenotype , Polymorphism, Single Nucleotide/genetics , Proteinuria/complications , Proteinuria/pathologyABSTRACT
AIM: To assess the association between polymorphisms in angiotensin converting enzyme and methylene tetrahydrofolate reductase genes and recurrent pregnancy loss by a case-control study in South Indian women. METHODS: DNA was extracted from peripheral blood leukocytes of 104 women with Recurrent Pregnancy Loss (RPL) and 120 controls. Genotyping of ACE Insertion Deletion and MTHFR C677T polymorphism were carried out by PCR and PCR-RFLP, respectively. RESULTS: No statistically significant difference was observed in the distribution of genotypes between cases and controls for ACE and MTHFR polymorphisms. Further, the combination of MTHFR and ACE genotypes failed to reveal an association. CONCLUSION: In conclusion, the present study reveals lack of association of MTHFR C677T and ACE I/D polymorphisms in RPL in South Indian women. However, we cannot exclude the possibility that other polymorphisms of ACE and MTHFR genes could be associated with the disease and might be clinically useful as a marker to assess risk for RPL.
Subject(s)
Abortion, Habitual/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic/genetics , Adult , Case-Control Studies , DNA/blood , Female , Genotype , Humans , India , Middle Aged , PregnancyABSTRACT
The ethnic variation in the GGN and CAG microsatellites of the androgen receptor (AR) gene suggests their role in the substantial racial difference in prostate cancer risk. Hence, we performed a case-control study to assess whether GGN repeats independently or in combination with CAG repeats were associated with prostate cancer risk in South Indian men. The repeat lengths of the AR gene determined by Gene scan analysis, revealed that men with GGN repeats