Department Of Biochemistry And Microbial Sciences

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    Association of MTHFR (C677T) Gene Polymorphism With Breast Cancer in North India
    (Sage, 2016) Waseem, Mohammad; Hussain, Syed Rizwan; Kumar, Shashank; Serajuddin, Mohammad; Mahdi, Farzana; Sonkar, Satyendra Kumar; Bansal, Chery; Ahmad, Mohammad Kaleem
    Background Breast cancer is one of the most common malignancies in women and is associated with a variety of risk factors. The functional single-nucleotide polymorphism (SNP) C677T in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) may lead to decreased enzyme activity and affect the chemosensitivity of tumor cells. This study was designed to investigate the association of MTHFR gene polymorphism (SNP) in the pathogenesis of breast cancer among the North Indian women population. Materials and Methods Genotyping was performed by polymerase chain reaction (PCR) using genomic DNA, extracted from the peripheral blood of subjects with (275 cases) or without (275 controls) breast cancer. Restriction fragment length polymorphism was used to study C677T polymorphism in the study groups. Results The distribution of MTHFR (C677T) genotype frequencies, ie, CC, TT, and CT, among the patients was 64.7%, 2.18%, and 33.09%, respectively. In the healthy control group, the CC, TT, and CT frequencies were 78.91%, 1.09%, and 20.1%, respectively. The frequencies of C and T alleles were 81.2% and 18.7%, respectively, in the patient subjects, while they were 88.9% and 11.09%, respectively, among the healthy control group. Frequencies of the CT genotype and the T allele were significantly different (P= 0.007 and P = 0.005, respectively) between the control and the case subjects. Conclusion This study shows an association of the CT genotype and the T allele of the MTHFR (C667T) gene with increased genetic risk for breast cancer among Indian women.
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    D Allele Frequency in Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme (ACE) Gene is Associated with Development of Breast Cancer Risk in Indian Women
    (Bentham Science, 2016) Kumar, Shashank; Hussain, Syed Rizwan; Waseem, Mohammad; Mahdi, Farzana; Bansal, Chery; Ahmad, Mohammad Kaleem
    Aims: Breast cancer is the second most common cancer in the world and, by far, the most frequent cancer among women. Scientific literature has hypothesized the association of ACE I/D polymorphism with breast cancer for several decades. Unfortunately the outcomes of studies are inconsistent. Thus the present study was designed to evaluate the association of ACE gene (I/D) polymorphism with breast cancer in Indian population. Methods: Genotyping was performed by PCR (polymerase chain reaction), using genomic DNA extracted from peripheral blood of subjects, with (213 cases) or without (213 controls) breast cancer. Findings: The distribution of ACE genotype frequencies i.e. II, DD and ID in patients was 43.19%, 16.43% and 40.38% respectively. In healthy control group II, DD and ID frequencies were 52.58%, 11.27% and 36.15% respectively. The frequencies of D and I alleles were 29.34% and 70.66% in the healthy subjects, while 36.62% and 63.38% among the patient group. Frequency of D allele was significantly different (p=0.0287) between control and case subjects. Significance: The present study showed an association of D allele of ACE gene with increased genetic risk factor for breast cancer in Indian women. 0.2% increased disease risk was found in patients carrying D allele.