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Abstract HCC accounts for >5% of all human cancers and for 80% - 90% of primary liver cancer. It is a major health problem worldwide being the fifth most common malignancy in men and the eighth in women; the third most common cause of cancer-related death in the world. The human PAI-1 gene is located on chromosome 7 (q21.3–q22), spans approximately 12200 base pairs, and consists of nine exons and eight introns. The PAI-1 gene is a highly polymorphic gene and more than 180 single nucleotide polymorphisms have been identified. Among SNPs of the PAI-1 gene, a guanosine insertion/deletion polymorphism in the promoter region of SERPINE1 gene at the –675 bp position, named 4G/5G, has been described. The aim of this study is to investigate the distribution of genotypes and the frequency of alleles of plasminogen activator inhibitor-1 (SERPINE1/ PAI-1) 4G/5G polymorphism in patients with HCC (allele specific PCR). The present study was carried out on 206 subjects, 153 males and 53 female. The studied subjects were divided into three groups: group I included 52 HCV related cirrhotic patients (34 males, 18 females) their ages ranged between 39-72 years, group II included 49 HCC patients (39 males, 10 females) their ages ranged between 43-83 years and group III included 105 apparently healthy, age and gender matched subjects as a control group (80 males, 25 females), their ages ranged between 40-73 years. All subjects were submitted to the followings; history taking, clinical examination, and laboratory investigations. These include detection of PAI-1 4G/5G polymorphism using PCR. The results of this study revealed that: In HCV related cirrhosis group: The distribution of different genotypes of PAI-1 4G/5G polymorphism is as follow 40.4% had the 4G/5G genotype, 46.2% had the 5G/5G genotype and 13.5% had the 4G/4G genotype. There is no significant difference among the three genotypes regarding age, gender, laboratory parameters (liver function) and CHILD score. There is no significant difference in genetic distribution of PAI-1 gene 4G/5G polymorphism between control and HCV related cirrhotic patients and also between HCV related cirrhotic patients and HCC cases. Regarding allele frequencies (4G and 5G alleles) between control and HCV cases there is no significant risk. In HCC group: • The distribution of different genotypes of PAI-1 4G/5G polymorphism is as follow 49% had the 4G/5G genotype, 34.7% had the 5G/5G genotype and 16.3% had the 4G/4G genotype. There is no significant difference among the three genotypes regarding age, gender, laboratory parameters (liver function) and CHILD score. There is a significant increase in 4G/5G genotype among HCC patients with thrombosed portal vein. There is no significant difference in genetic distribution of PAI-1 gene 4G/5G polymorphism between control and HCC patients and also between HCV related cirrhotic patients and HCC cases. Regarding allele frequencies (4G and 5G alleles) between control and HCC, there is no significant risk. In the control group: • The distribution of different genotypes of PAI-1 4G/5G polymorphism is as follow 46.7% subjects had 4G/5G genotype, 34.3% subjects had 5G/5G genotype and 19% subjects had 4G/4G genotype. There is no significant difference among the three genotypes regarding age and gender. |