الفهرس 
Chapter I Introduction and aim of workOnly 14 pages are availabe for public view
 |  | from | 174 |  |  |
| | | from | 174 | | |
Abstract
The aim of this study is to investigate the association between Inosine triphosphate pyrophosphohydrolase (ITPA), protein tyrosine phosphatase receptor type C (PTPRC), and Tumor necrosis factor receptor superfamily member 10a ( TNFRSF 10A) genetic polymorphisms and its association with the risk of chronic hepatitis C infection among Egyptian population. This study included some Egyptian families with a total of 264 individuals recruited from different Egyptian regions and were classified into the following three groups, 103 chronic HCV patients (CHCV) (positive for anti-HCV Ab and HCVRNA), 106 controls (negative for anti-HCV Ab and HCV- RNA) and 55 persons who spontaneously cleared the virus (SVC) (positive for anti HCV Ab but negative for HCV. Blood samples were tested for HCV Viral Load, Routine laboratory analysis include total serum bilirubin levels, serum albumin, serum creatinine, α-fetoprotein, antinuclear antibodies and liver enzymes activities (ALT, AST, ALP) and Allelic discrimination by Applied Biosystem 7500 RT-PCR for genotyping of ITPA (rs7270101, hcv25994348 and rs1127354), PTPRC (rs759332278) and TNFRSF10A (rs20575). Descriptive genetic analysis data for ITPA (rs7270101) showed that C allele can be considered a risk allele. Descriptive genetic analysis data for ITPA (hcv25994348) and (rs1127354) showed that this SNPs were not polymorphic where G and C are the major alleles for the two SNPs respectively. Descriptive genetic analysis data for PTPRC (rs759332278) showed that this SNP was not polymorphic where A allele is the major allele. Descriptive genetic analysis data for TNFRSF10A showed that G allele can be considered a risk allele. The C allele of ITPA rs7270101 A/C polymorphism is found to be significantly associated with HCV group when compared with negative healthy group (P<0.05), while it is not significantly associated to HCV group when compared to SVC and to SVC group when compared to negative healthy group (P>0.05). For ITPA hcv25994348 G/A polymorphism G allele is the major allele, for ITPA rs112754 C/G polymorphism C allele is the major allele and for PTPRC rs7592278 A/C polymorphism A allele is the major allele. All genotyped subjects have a mutant type, which means these markers are not polymorphic in Egyptian population. Therefore, no association found with HCV infection.