Aggrecan is the major component of intervertebral disk matrix proteoglycan with multiple functional domains. To understand the role of aggrecan polymorphism in a part of exon 12 encoding the CS1 domain in lumbar disk degeneration disease, we have analyzed genomic DNA from 71 patients with the disease and 108 healthy individuals in northern Iran. The AGC1 alleles were determined by PCR followed by gel electrophoresis. Twelve AGC1 alleles ranging from 18 to 29 repeats were detected in patients and controls. The most frequent AGC1 allele was 27, followed by 28 in patients and controls. The shorter AGC1 alleles (< or =24 repeats) were more frequent in patients than in controls (37 vs. 16%, P < 0.001). The odds ratio for lumbar disk degeneration was 3.28 (95% confidence interval 1.62-6.65) in carriers of the shorter AGC1 alleles. Our data suggest that carrying shorter AGC1 alleles with less than 24 repeats could predispose a subject to lumbar disk degeneration disease in northern Iran.

The p53 gene is one of the most extensively studied human genes because of its role as a tumor suppressor gene. Its diverse functions include DNA binding, cell cycle control, DNA repair, differentiation, genomic plasticity, and apoptosis. A common polymorphism of the p53 gene at codon 72 has been associated with human cancer susceptibility and prognosis. In this study, we investigated p53 codon 72 polymorphism in 42 breast cancer cases and 60 healthy individual in northern Iran. Genomic DNA was extracted from fresh tumor tissues of patients and blood samples of healthy individuals. AS-PCR method was applied for determination of codon 72 polymorphism. The distribution of genotypes in breast cancer cases and controls were different (p = 0.001). Pro allele was significantly associated with the presence of breast cancer (odds ratio = 1.5 and 95% confidence interval = 0.85-2.63). Pro/Pro genotype was overrepresented in breast cancer. Based on these data, it is suggested that Pro allele may modify the risk of breast cancer in northern Iranian women.

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