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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: autoimmunity,Common Variable Immunodeficiency (CVID),hypogammaglobulinemia
- چکیده:
- چکیده انگلیسی: Common Variable Immunodeficiency (CVID) represents the most frequent symptomatic primary humoral immunodeficiency. Clinical presentation includes hypogammaglobulinemia, recurrent infections, autoimmune phaenomena and increased lymphoma and cancer risk. While the first cases were reported in the early 50’s, the first genetic cause of CVID was described after 5 decades. After the first description, and also thanks to the advances in the field of biomedical research, several additional genetic causes of CVID have been described. The current genetic landscape of CVID includes numerous genetic alterations that may cause or contribute to the development of CVID, underscoring the complexity and heterogeneity of this disorder.
- انتشار مقاله: 29-10-1398
- نویسندگان: Vasssilios Lougaris,Alessandro Plebani
- مشاهده
- جایگاه : پژوهشی
- مجله: Asian Pacific Journal of Cancer Prevention
- نوع مقاله: Journal Article
- کلمات کلیدی: cervical cancer,gene polymorphism,XRCC1,APE-1,Base excision repair
- چکیده:
- چکیده انگلیسی: Backgrounds: Cervical cancer (CC) is one of the leading cause of death in women worldwide, HPV infection is the major risk factor in the disease development, 0and however other risk factor such as chemical carcinogens, genetic susceptibility and altered immune system are also a cause of the disease progression. In the light of the above statement we studied the base excision repair pathway (BER). Methods: We identified and studied the association of Single Nucleotide polymorphisms in the DNA repair genes of XRCC1 (Arg194Trp, Arg399G,) and APE-1Asp/148Glu to the susceptibility of cervical cancer (CC) in North Indian population. In our study of cases (n=102). Controls (n=109) were recruited from among women without cervical abnormalities. Genotypes were determined by PCR-CTPP method, Taking DNA from peripheral blood in a case control study. Results: A positive association was observed between the polymorphisms of XRCC1 genes, that is, in codons 194 (P=0.03, odds ratio (OR) =2.39, 95% confidence interval (CI)=5.2–1.1), 280 (P=0.01, OR=4.1, 95% CI=11.5–1.3) and 399 (P=0.01, OR=3.4, 95% CI=8.6–1.3) while APE-1 genotype GG (p=0.03,odds ratio(OR)=0.2,95% confidence interval (CI)=0.97-0.004) we observed a statistically significant protective role in developing cervical cancer. Conclusion: Our results suggested that, XRCC1 gene is an important candidate gene for susceptibility to cervical cancer. Although the sample size was small, the present study indicate a statistical association between cervical cancer and XRCC1 SNPs. Future studies are needed that may provide a better understanding of the association between gene polymorphism and cervical carcinoma risk.
- انتشار مقاله: 24-12-1398
- نویسندگان: Mark Rector Charles,Syed Tasleem Raza,Rolee Sharma,Pushpendra Pratap,Ale Eba,Manvendra Singh
- مشاهده