Personalized and Precision Medicine Journal

Abstract Background: Matrix metalloproteinases (MMPs) play a critical role in tumor invasion and metastasis in papillary thyroid carcinoma (PTC). This study investigates the association of MMP2 (rs7201) and MMP9 (rs17576) polymorphisms with PTC risk and clinical characteristics, aiming to inform personalized medicine approaches.
Methods: A case-control study was conducted with 210 PTC patients and 210 controls. Genotype frequencies were analyzed using Chi-Square tests, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Associations with clinical characteristics (T Status, N Status, Stage) were assessed in PTC patients.
Results: The MMP2 rs7201 CC genotype was significantly associated with increased PTC risk (OR = 3.524, 95% CI = 1.809–6.867, p = 0.001) and advanced T Status (T3: 48.6%, p = 0.029), but not with N Status (p = 0.509) or Stage (p = 0.461). The C allele was more frequent in cases (44%) than controls (32%) (OR = 1.590, p = 0.001). Conversely, MMP9 rs17576 showed no association with PTC risk (GG: OR = 0.727, p = 0.277) or clinical characteristics (p > 0.05). Both polymorphisms were in Hardy-Weinberg equilibrium in controls.
Conclusion: The MMP2 rs7201 CC genotype and C allele are associated with increased PTC risk and tumor progression, highlighting their potential as biomarkers for personalized risk stratification. These findings support genotype-based screening to identify high-risk PTC patients, enabling tailored surveillance and therapeutic strategies. Further studies are needed to validate these associations and explore their utility in precision medicine.

Abstract Aim: Oxidative stress is one of the main factors has been implicated in pathophysiology of cataracts. Superoxide dismutase (SOD) can prepare the first line of defense versus detrimental reactive oxygen species (ROS) and Sirtuin (SIRT) confers protection against oxidative stress and retinal degeneration. Correlation of SOD1-50bp ins/del and SIRT1-rs7895833 polymorphisms with risk of cataracts is not studied currently. Therefore, we aimed to explore possible relationship between SOD1 (50bp ins/del) and SIRT1 (rs7895833) polymorphisms with the risk of cataracts in Iranian population. 
Methods: Our study design consisted of 200 patients with age-related cataracts and 200 healthy individuals as a control group. After DNA extraction, the identification of polymorphisms was conducted using PCR-based methods and data analysis was done by SPSS software. 
Results: A significant difference in SOD1 DD genotype distribution was observed between studied groups (OR: 3.42, P:0.037), the D allele was more frequent in patients in comparison with controls (OR: 1.68, P:0.009). Also, in the dominant genetic model for the D allele (comparison between ID+DD vs. II), ID+DD genotypes increased the risk of cataracts (OR: 1.62, P: 034). The association between SIRT1-rs7895833 polymorphism and cataract was significant in the AG genotype (OR: 2.37, P<0.001) and G allele (OR: 1.97, P<0.001). The SIRT1-1 polymorphism increased the risk of cataracts in the dominant tested inheritance model (OR: 2.34, P<0.001). In the combined analysis of two polymorphisms, there is an additive effect of the high-risk putative alleles about the risk of cataracts. Risk estimation according to the number of high-risk alleles showed that χ2 for linear trend for 0, 1, 2, 3 and 4 putative high-risk alleles is equal to 20.10 (P<0.001). 
Conclusion: The results showed that for the first time, SIRT1 rs7895833 and SOD1-50bp ins/del gene variations had additive effects on the risk of cataracts.