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Impact of CCL2 and Its Receptor CCR2 Gene Polymorphism in North Indian Population: A Comparative Study in Different Ethnic Groups Worldwide.

ABSTRACT: Chemokine are small, inducible pro-inflammatory cytokines involved in many biological processes, such as migration of leukocytes, atherosclerosis, angiogenesis, tumor growth, and metastasis. Chemokine are also known to influence tumor cell's activity. Specifically, tumor cells express chemokine receptors in a non random manner suggesting a role of chemokine in metastatic destination of tumor cells. The present study was conducted to determine distribution of (Chemokine receptor 2) CCR2 V64I, Chemokine ligand 2 CCL2 I/D, and CCL2 2518 A>G gene polymorphisms in North Indian population and compare with different populations globally. Polymerase chain reaction (PCR)-based analysis was conducted in 200 normal healthy individuals of similar ethnicity. Allelic frequencies in wild type (GG) of CCR2 V64I G>A were 63 % G; CCL2 I/D 42 % II; CCL2 2518 A>G 40.5 % A. The minor variant allele frequency in our population was as follows: 19.5 % for CCR2 V64I, 35.5 % for CCL2 I/D, 35.3 % for CCL2 2518 A>G. We further compared frequency distribution for these genes with various published studies in different ethnicity. Our results suggested that frequency in chemokine genes exhibit distinctive pattern in India that could be attributed to ethnicity variation. This could assist in high-risk screening of human exposed to environmental carcinogens and cancer predisposition in different ethnic groups. Thus, they signify an impact of ethnicity and provide a basis for future epidemiological and clinical studies.

SUBMITTER: Singh V

PROVIDER: S-EPMC3689333 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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Impact of CCL2 and Its Receptor CCR2 Gene Polymorphism in North Indian Population: A Comparative Study in Different Ethnic Groups Worldwide.

Singh Vibha V Srivastava Neena N Srivastava Priyanka P Mittal Rama Devi RD

Indian journal of clinical biochemistry : IJCB 20121005 3

Chemokine are small, inducible pro-inflammatory cytokines involved in many biological processes, such as migration of leukocytes, atherosclerosis, angiogenesis, tumor growth, and metastasis. Chemokine are also known to influence tumor cell's activity. Specifically, tumor cells express chemokine receptors in a non random manner suggesting a role of chemokine in metastatic destination of tumor cells. The present study was conducted to determine distribution of (Chemokine receptor 2) CCR2 V64I, Che ...[more]

PMID: 24426221

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Project description:Background: Age-related macular degeneration (AMD) is the most common cause of progressive and irreversible blindness in developed countries. Although the pathogenesis is not fully understood, AMD is a multifactorial pathology with an accumulation of inflammatory components and macrophages and a strong genetic predisposition. Our purpose was to investigate the association between early AMD and CCL2 (rs1024611, rs4586, rs2857656) and CCR2 (rs1799865) single nucleotide polymorphisms (SNPs) and CCL2, CCR2 serum levels in a Lithuanian population. Methods: The study included 310 patients with early AMD and 384 healthy subjects. Genotyping of CCL2 rs1024611, rs4586, rs2857656, and CCR2 rs1799865 was performed using a real-time polymerase chain reaction method, while CCL2 and CCR2 chemokines serum concentrations were analyzed using an enzyme-linked immunosorbent assay. Results: We found that the G allele at CCL2 rs1024611 was more prevalent in the early AMD group than in controls (29.2% vs. 24.1%, p = 0.032). Similarly, the C allele in CCL2 rs2857656 is more common in the early AMD group than in controls (29.2% vs. 24.2%, p = 0.037). Binomial logistic regression revealed that each G allele in rs1024611 was associated with 1.3-fold increased odds of developing early AMD under the additive model (OR = 1.322; 95% CI: 1.032–1.697, p = 0.027) as was each C allele in rs2857656 under the additive model (OR = 1.314; 95% CI: 1.025–1.684, p = 0.031). Haplotype analysis revealed that the C-A-G haplotype of CCL2 SNPs was associated with 35% decreased odds of early AMD development. Further analysis showed elevated CCL2 serum levels in the group with early AMD compared to controls (median (IQR): 1181.6 (522.6) pg/mL vs. 879.9 (494.4) pg/mL, p = 0.013); however, there were no differences between CCR2 serum levels within groups. Conclusions: We found the associations between minor alleles at CCL2 rs1024611 and rs2857656, elevated CCL2 serum levels, and early AMD development.

Project description:Reduction in DNA repair capacity is associated with increased rates of birth defects, cancer, and accelerated aging. According to some earlier studies, genetic polymorphisms in DNA repair genes might influence the repair activities of the enzymes predisposing individuals to cancer risk. Owing to the presence of these genetic variants, inter-individual and ethnic differences in DNA repair capacity have been observed in various populations. Polymorphisms in DNA repair genes and differences in repair capacity between individuals have been widely reported in different cancers. We conducted a case-control study to examine the role of genetic polymorphisms in XRCC1 Gln632Gln (rs3547), Arg399Gln (rs25487), Arg280His (rs25489), Arg194Trp (rs1799782) in the risk of laryngeal cancer in different ethnic groups in Xinjiang. This study included 58 laryngeal cancer patients and 120 healthy controls age- and sex-matched without cancer. The genotypes of XRCC1Gln632Gln (rs3547), Arg399Gln (rs25487), Arg280His (rs25489) and Arg194Trp (rs1799782) were analyzed by PCR-RFLP, and the odds ratio (OR) and 95% confidence interval (CI) were calculated using an unconditional logistic regression model. C/T (hybrid) and T/T (mutant) genotypes of XRCC1 Arg280His (rs25489) revealed no statistical significance in the risk of laryngeal cancer (P>0.05), whereas the genotypes of XRCC1 Gln632Gln (rs3547), Arg399Gln (rs25487), Arg280His (rs25489), Arg194Trp (rs1799782) showed a higher risk than the controls (P<0.01) in Han, Uygur, and Kazak nations. In conclusion, the current study suggests that XRCC1 Gln632Gln (rs3547), Arg399Gln (rs25487), and Arg194Trp (rs1799782) polymorphisms may be associated with laryngeal cancer risk in the Han, Uygur, and Kazakh populations in Xinjiang. Individuals carrying genotype Arg/Gln+Gln/Gln showed a greater risk than those carrying Arg/Arg for laryngeal cancer in the Han, Uygur and Kazakh ethnic groups, and the odds ratios are 1.47, 1.32, and 0.77.

Dataset Information

Impact of CCL2 and Its Receptor CCR2 Gene Polymorphism in North Indian Population: A Comparative Study in Different Ethnic Groups Worldwide.

Publications

Impact of CCL2 and Its Receptor CCR2 Gene Polymorphism in North Indian Population: A Comparative Study in Different Ethnic Groups Worldwide.

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