Dataset Information

Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population.

ABSTRACT: Gliomas are most common neoplasms in the CNS with unknown aetiology. Gene polymorphisms have been studied in glioma to check its risk in different population. CDKN2A, commonly altered tumor suppressor gene polymorphisms were recently shown to be associated with glioma in Caucasians. Present study evaluated potential association between two SNPs in CDKN2A/B gene with glioma risk in South Indian population with a total of 128 cases and 140 control subjects. Allelic discrimination assay was used for the genotyping and the association of each SNP with glioma risk were calculated using odds ratio and 95% CI. There was no association between rs4977756 polymorphism and glioma risk in south Indian population. GG genotype had a non-significant low risk in glioma (OR = 0.69). rs11515 polymorphism was not in Hardy Weinberg Equilibrium in our sample, so it was not considered for association studies. There was difference in genotype in tissue samples paired with blood samples for rs4977756 polymorphism, suggesting the importance of tissue SNP status in association studies. These results show that these two polymorphisms may not contribute to risk for glioma in South Indian population.

SUBMITTER: Sibin MK

PROVIDER: S-EPMC5006130 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population.

Sibin M K MK Dhananjaya I Bhat IB Narasingarao K V L KV Harshitha S M SM Jeru-Manoj M M Chetan G K GK

Meta gene 20160717

Gliomas are most common neoplasms in the CNS with unknown aetiology. Gene polymorphisms have been studied in glioma to check its risk in different population. CDKN2A, commonly altered tumor suppressor gene polymorphisms were recently shown to be associated with glioma in Caucasians. Present study evaluated potential association between two SNPs in CDKN2A/B gene with glioma risk in South Indian population with a total of 128 cases and 140 control subjects. Allelic discrimination assay was used fo ...[more]

PMID: 27617221

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Project description:BackgroundCell surface biomarker CD44 plays an important role in breast cancer cell growth, differentiation, invasion, angiogenesis and tumour metastasis. Therefore, we aimed to investigate the role of CD44 gene polymorphisms in breast cancer risk and prognosis in North Indian population.Materials & methodsA total of 258 breast cancer patients and 241 healthy controls were included in the case-control study for risk prediction. According to RECIST, 114 patients who received neo-adjuvant chemotherapy were recruited for the evaluation of breast cancer prognosis. We examined the association of tagging SNP (rs353639) of Hapmap Gujrati Indians in Houston (GIH population) in CD44 gene along with a significant reported SNP (rs13347) in Chinese population by genotyping using Taqman allelic discrimination assays. Statistical analysis was done using SPSS software, version 17. In-silico analysis for prediction of functional effects was done using F-SNP and FAST-SNP.ResultsNo significant association of both the genetic variants of the CD44 gene polymorphisms was found with breast cancer risk. On performing univariate analysis with clinicopathological characteristics and treatment response, we found significant association of genotype (CT+TT) of rs13347 polymorphism with earlier age of onset (P = 0.029, OR = 0.037). However, significance was lost in multivariate analysis. For rs353639 polymorphism, significant association was seen with clinical tumour size, both at the genotypic (AC+CC) (P = 0.039, OR = 3.02) as well as the allelic (C) (P = 0.042, OR = 2.87) levels. On performing multivariate analysis, increased significance of variant genotype (P = 0.017, OR = 4.29) and allele (P = 0.025, OR = 3.34) of rs353639 was found with clinical tumour size. In-silico analysis using F-SNP, showed altered transcriptional regulation for rs353639 polymorphism.ConclusionsThese findings suggest that CD44 rs353639 genetic variants may have significant effect in breast cancer prognosis. However, both the polymorphisms- rs13347 and rs353639 had no effect on breast cancer susceptibility.

Dataset Information

Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population.

Publications

Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population.

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