Personalized and Precision Medicine Journal

Abstract Lung cancer is still the most common cancer worldwide in terms of the number of newly diagnosed cases and mortality rate. The expression of miR-146a was reduced in mesenchymal-like lung cancer cell lines. The overexpression of miR-146a induced a marked reduction of the mesenchymal marker and increase in the epithelial marker in lung cancer cell lines. The current study investigated the association of miR-146a genotypes and lung susceptibility in a Tehran population to determine the visibility of using RFLP-PCR genotype. The results revealed a significantly higher frequency of miR-146a CG and CC genotypes (p =0.01 and p=0.008, respectively) in patients compared with the control group. Those with the miR-146a GC and CC genotypes had an increased risk for developing lung cancer (OR=1.9; 95% CI: 1.1-3.3 and OR=4.1; 95% CI: 1.5-12.3, respectively). Moreover, the frequency rates of miR-146a CC genotype and C allele were significantly higher in patients than in the controls (p =0.006 and p=0.000, respectively).

Abstract Cervical cancer is the second most common cancer and an important cause of death in women worldwide. Objective biomarkers are needed to improve specificity for cervical cancer screening. The p16 gene is implicated in the cell cycle control, playing an important role as a tumor suppressor gene. In this study, the methylation of the P16 gene promoter was evaluated in people with cervical cancer and people with the papilloma virus. The study population included nine women with cervical cancer whose malignancy had been confirmed by a pathologist and ten patients with high-risk types of HPV virus. Methylation status was evaluated by MS-PCR. Cervical cancer patients showed a significantly higher methylation frequency for the p16 gene as compared to the control and the HPV group (p=0.001).

Abstract Background and Objectives:
The coronavirus first appeared in Wuhan, China, in late November 2019, and has since spread to more than one hundred countries. COVID-19 has been declared by the World Health Organization as a Public Health Emergency of International Interest. This has been the result of a virus now having reached pandemic proportions and there not being an effective vaccine or antiviral treatment. In this article, we aim to highlight each current drug being tested for potential effectiveness on this disease.
Methodology: The research is a descriptive review conducted by a search in reputable scientific databases, including Scopus, Google Scholar, and PubMed, utilizing the phrases virus, coronavirus, COVID-19, SARS-CoV-2, and treatment. The latest expertise:given that the development and efficacy of antiviral drugs require substantial time, monotherapy for other diseases may represent the most efficient therapeutic option for a certain condition. Pharmaceuticals with broad-spectrum efficacy, including Bevacizumab, Methylprednisolone, Fingolimod, fluoxetine, Ritonavir, chloroquine Fesnate, remdesivir, and Favipiravir, are currently under investigation as prospective candidates in various clinical trials.
Conclusion: To conclude, all these drugs are potentially useful in the prevention and treatment of diseases. But none of these drugs is a cure-all, specific treatment for COVID-19. Therefore, we must continue to search for an effective drug treatment for this disease until we have a proven successful agent available.

Abstract Metachromatic leukodystrophyis a kind of lysosomal storage disorder caused by a deficiency in the ARSA enzyme, which is involved in the metabolism of membrane sulfatides into galactosylceramide. ARSA gene mutation analysis is likely to be in increasing demand for the accurate detection of heterozygous carriers and for prenatal diagnosis in families with a metachromatic leukodystrophy proband. This study examined the sequence of the ARSA gene in 7 patients with metachromatic leukodystrophy by exon Sanger sequencing. Eleven mutations were found in the ARSA gene. It was further found that five mutations were probably damaging to the protein activity with a high score and specificity. The results pave the way to a more effective method for career detection , genetic diagnosis, and the counseling of Iranian patients with MLD disorder.
 

Abstract The aim of this study is to investigate the attitude, beliefs, and perceptions among undergraduate and graduate students toward precession medicine (PM) and pharmacogenomics (PGx) practice. A cross-sectional survey is conducted amongst students from different universities in Bangladesh.The results of the survey showed that the majority of students had a positive attitude towards precision medicine and pharmacogenomics, perceiving it as a means to improve diagnosis and treatment accuracy. Furthermore, many students also expressed a willingness to learn more about precision medicine and pharmacogenomics, suggesting that there is potential for these practices to be utilized in Bangladesh. Particularly in this study, 337 students from life science and relevant programs participated. From this study, it is shown that 84% of graduate students and 74% of undergraduate students thought PM is a promising healthcare model. In addition, 39% of students are highly encouraged to pursue their post-graduation in the subject areas of PGx and PM to support patients. The majority (62%) thought that patient privacy was the ethical concern most closely related to pharmacogenomic testing, while 19% of respondents thought that data confidentiality was the key issue. The results provide insight into the potential of precision medicine and pharmacogenomics in Bangladesh and suggest that further research into the attitudes of healthcare professionals should be conducted in order to take full advantage of the potential of these practices.

Abstract IntroductionLung cancer is the prevailing form of cancer globally, with a significant fatality rate among both males and females. Lung cancer is the third most frequent type of cancer in Iran, and it is becoming more common all the time. Patients are frequently diagnosed in the advanced stages of the disease, which contributes to the high death rate. Therefore, the ability to identify molecular markers is essential for both early diagnosis and the choice of conventional treatment for lung cancer. Numerous genetic variations have been found to be strongly linked to the development of lung cancer, according to studies. The aim of this work is to look into the genes that contribute to the development of lung cancer.
Materials and methods: The present review was authored using search terms related to lung cancer, key genes, clinical biomarkers, and early diagnosis that were found on PubMed, NCBI, Scopus, Science Direct, and Google Scholar.
Findings: Since the EGFR, KRAS, BRAF, and TP53 genes are the most significant and involved in the development of lung cancer, finding mutations in these genes can be a valuable clinical diagnostic for lung cancer diagnosis and therapy.
Discussion and conclusion: With an emphasis on personalized medicine, the identification of genes linked to lung cancer may be utilized as clinical biomarkers for the disease's early diagnosis and effective treatment. The state of targeted lung cancer therapy and early detection techniques may be enhanced by molecular biomarkers. In the field of personalized medicine, identifying the genes linked to lung cancer as clinical biomarkers for early diagnosis and assessing treatment response to select a targeted treatment can be crucial in streamlining the therapeutic process, improving treatment response, lowering mortality, and lessening the material and spiritual harm this illness causes.

Abstract According to the World Health Organization, one in eight to ten women will develop breast cancer. Therefore, the development of new blood / serum markers is important as an alternative to traditional diagnosis methods. Early detection of breast cancer plays an important role in choosing the right treatment approach and treating the patient. In this study, the expression of miRNA21 gene in the plasma sample of people with breast cancer compared to healthy people was evaluated. The results of qPCR showed that the expression levels of miRNA-21 in the plasma samples of breast cancer patients were significantly increased compared to those of the healthy controls. These results suggest that Mir 21 could be a very good blood biomarker for the early detection of breast cancer.

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.

Abstract Spermatogenesis is a very complex process that can be affected by a number of factors which may lead to reduced fertility or infertility. Busulfan kills spermatogonia stem cells and disrupts the connections between Sertoli and spermatogonia cells at base layers. Moreover, vitamin D is very important in the reproductive system of men. In this study, the effect of vitamin D on biosulfur-induced azoospermia in mice was investigated. The results showed an increase in the quality of sperm parameters in the group treated with vitamin D.

Abstract Vitamin C plays is a cofactor for enzymes involved in many processes and has effects that are important for cancer transformation, such as antioxidant defense, transcription, and epigenetic regulation of gene expression.Angiogenesis is a normal process required for normal tissue repair and growth. Pathological angiogenesis is characterized by the persistent proliferation of endothelial cells and formation of blood vessels.The current study evaluated the effect of ascorbic acid on angiogenesis by investigating the expression of genes related to angiogenesis after treatment with different doses of ascorbic acid. By changing the concentration and administration time of ascorbic acid, a positive effect on the growth and metastasis of cancer cells in the group injected with ascorbic acid prior to having cancer cells injected into the abdominal cavity .



 

Abstract Introduction: In this study the effect of C. colocynthis extract and phycocyanin on the growth of colon cancer cells, and the expression of Caspase 3 and Bax were investigated.
Materials & Methods: colon cancer cells (HT29) were treated with different concentrations of C. colocynthis and phycocyanin extracts for 24, 48 & 72 hours. The percentage of cell survival was then measured by MTT assay. Expression of Caspase 3 and Bax genes was investigated by real-time PCR. At the end results were analyzed by SPSS software.
Results: Significant differences were observed in the average percentage of dead cells with 2 to 30 g/μL concentration of extract, phycocyanin, extract + phycocyanin after 24, 48 and 72 hours (p<0.05). The combination of extract and phycocyanin as well as phycocyanin alone showed stronger inhibitory effects on growth of cancer cells compared to extract (p <0.05). The expression of Bax gene was significantly increased by treatment of combination of extract and phycocyanin (2.55-fold) and also C. colocynthis extract alone (1.67-fold) (p <0.01). In addition, the combination of extract and phycocyanin and Abujahl watermelon extract significantly increased the expression of caspase 3 gene (2.15 and 1.75), respectively (p <0.01).
Conclusion: The anticancer effect of Citrullus Colocynthis extract, as well as phycocyanin can be applied by increase the expression of Bax and caspase 3 genes and as a result, apoptosis induction in cancer cells.

Abstract Today evaluation of polymorphisms of the antioxidant enzyme-encoding genes, which affect the activity of antioxidant enzymes, could be used as risk prediction models for male infertility. This study aims to evaluate coloration of serum paraoxonase (PON1) activity levels in the semen and its L55M gene variants with risk male infertility. In a case-control study, semen samples were collected from 80 healthy controls and 128 infertile men at Fatemeh Al-Zahra IVF and Pastor Laboratory (Babol, Mazandaran, Iran). PON1 activity of semen samples was measured by spectrophotometric methods. Genotyping of all individuals based on PON1-L55M loci performed by PCR-RFLP and PCR-sequencing and molecular effects of leucine (L) to methionine (M) substitution were investigated by bioinformatics tools. Results showed a significant difference in genotype frequencies of PON1-L55M polymorphism between patient and control groups, and c.163T>A transition effect on the structure and function of PON1 protein. Also, TA genotype (OR=1.754, 95%CI=0.971 to 3.166, P= 0.062) and AA genotype (OR=5.067, 95%CI=1.366 to 18.789, P= 0.015) were associated with male infertility. Men with mutant allele (AA+TA) are exposed to be at the risk of male infertility (OR= 1.990, 95%CI= 1.118 to 3.54, P= 0.019). Also, the allelic analysis showed that the A allele was associated with the increased risk of idiopathic male infertility (OR= 1.749, 95%CI= 1.143 to 2.676, P= 0.010). Additionally, PON1 activity was higher in the TT (LL) individuals compared to the TA (LM) and AA (MM) men in both groups (LL> LM> MM). Since, the PON1-L55M gene variants are related to PON1 activity levels in the semen and serum paraoxonase is known as an important antioxidant calcium-dependent enzyme, it could be implicated in male infertility. Based on these findings, the presence of mutant allele (A) and or decreasing semen’s PON1 level may be an indicator/ prediction factor for male infertility.

Abstract The roles of miRNAs in autoimmunity are only beginning to be explored; they may be involved in regulating immune responses against self-tissues.miRNAs may contribute to disease progression and response to treatment in MS patients. Several studies on MS have analyzed the role or profile of miRNAs in different tissues including peripheral blood mononuclear cells (PBMCs).The current study evaluated mir-21 and mir-146a in CSF samples of patients with multiple sclerosis. Differential expression of the two miRNAs was detected in at least 80% of the CSF samples;however, additional functional studies and analyses of larger cohorts are needed to validate these results and to elucidate the real role of these miRNAs in the context of MS.
 

Abstract Polymorphisms of Vitamin D-binding protein (DBP) may represent a risk factor for susceptibility to Type 2 Diabetes Mellitus (T2DM). Two polymorphisms are common at codons 420 (ACG to AAG) and 416 (GAT to GAG) in the DBP gene. The present study aimed to assess variants of DBP at codons 420 and 416 utilizing polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), which were digested by Sty I (codon 420) and Hae III (codon 416) restriction enzyme. For this purpose, 240 patients were recruited along with 159 controls. The genotype frequency of Glu/Glu at codon 416 in control and patient groups was 25.16% and 32.92% respectively. Moreover, the genotype frequency of Lys/Lys was 6.67% in patients and 1.89% in controls at codon 420. A significant difference was found between control and patient groups in genotype frequencies at codon 420 (p<0.05). It was found that there might be an association between the vitamin D-binding protein gene and T2DM. 

Abstract One of the biggest issues facing Muslim nations like Iran is food safety, namely the contamination of halal and non-halal meats. The adulteration will result in composite items that may not be visibly discernible to consumers, thereby leading to many social and health issues. The availability of a detection technology capable of distinguishing between halal and non-halal meats in processed meals is crucial, particularly for use in small-scale labs. This work aimed to create and improve species-specific primers to differentiate between halal and non-halal meats in processed meals, employing NADH Dehydrogenase and ATP Synthase genes via simplex and multiplex PCR experiments. The findings indicated that DNA from processed beef, poultry, and pig could be effectively amplified with the NADH Dehydrogenase and ATP Synthase primers used in this work. The amplicon bands generated were clearly visible and aligned with the targeted size in both simplex and multiplex PCR testing, in comparison to primers from previous studies. This study's drawback was the detection of non-specific bands in bovine NADH Dehydrogenase and pig ATP Synthase primers; nonetheless, the presence of these non-specific bands was acceptable as the primary targeted band remained clearly apparent. The existence of these primers is anticipated to enhance the efficacy of halal food authentication, particularly in small-scale labs located in rural regions of Iran.

Abstract Due to the increasing level of bacterial antibiotic resistance (AB), it is now required to modify the dosage for customized medication using therapeutic drug monitoring. The creation of a novel treatment for clinical use, such as situations of bacterial resistance, has been hailed as a feasible, affordable, and quick alternative by the pharmaceutical industry. Therefore, the current research sought to examine the myorelaxant Thiocolchicosidum's antibacterial activity against bacterial strains. Staphylococcus aureus ATCC 25923, Escherichia coli ATCC 25922, Proteus mirabilis ATCC 25933, and Pseudomonas aeruginosa ATCC 27853 were used as the bacteria in an in vitro experimental study, along with the protocols for antibacterial activity screening, minimum inhibitory concentration (MIC), and characterization of antibacterial activity. Thiocolchicosidum, at levels varying from 0.48 to 1000 µg/mL, was the chemical. The only bacterial strains that showed any sensitivity to the myorelaxant were E. coli and P. aeruginosa, both of which had MICs of 500 µg/mL and 1000 µg/mL, respectively. Thiocolchicosidum demonstrated a bacteriostatic effect in the antimicrobial characterization test. Therefore, despite the fact that this medication is already considered safe for human use, no discernible antibacterial effects were shown in common bacterial strains. Therefore, research is required to determine how it differs from other microbes, such as various kinds of bacteria, fungus, and protozoa, in order to rule it out as a potential antibiotic material for use in industry.

Abstract Even if the symptoms during the acute phase are minimal, COVID-19 not only results in severe respiratory problems but also long-term consequences. Significant long-term consequences are now being identified as neurological and neuropsychiatric problems. The onset of neuropsychiatric symptoms brought on by a lengthy COVID might be challenging to detect and treat in patients with behavioral problems, such as those with autism spectrum disorders (ASD). In this article, we describe three instances of ASD that showed a substantial worsening of neuropsychiatric symptoms after exposure to COVID-19 and subsequent difficulties controlling the post-COVID neuropsychiatric symptoms. The therapy intended to target COVID-19-induced immune reaction was delayed because Case 1 caught SARS-CoV-2 in the early phases of the epidemic. Case 2 had a verified COVID-19 exposure but showed no symptoms during the acute phase, however, she later had severe neuropsychiatric symptoms. Case 3 had a challenging course, in part because of underlying immunological dysregulation and the past use of many immunomodulating drugs. Significant variations in peripheral blood monocytes' generation of inflammatory and counter-regulatory cytokines were seen in cases 1 and 3, for which serial blood samples were taken. The instances discussed here show how COVID-19 has a significant impact on neuropsychiatric symptoms in ASD patients as well as how challenging it is to treat long-term COVID side effects.

Abstract Cancer remains one of humanity's leading causes of both illness and death globally. In women worldwide, breast cancer remains the most widespread malignant condition. The new possibilities for direct treatment offered by the advances made thereby were the subject of the recent study undertaken as it sought to unravel tumorigenesis through genetics and molecular appreciation of cancer. Specifically, this research centers on devising and testing immunotoxins as anti-bacterial toxin-based constructs to treat breast cancer. These immunotoxins can kill cancer cells selectively while leaving normal tissues unharmed as they bind only to cancer cell antigens by using both the specificity of antibodies and bacterial toxins' cytotoxicity power. We assessed immunotoxins' binding affinities to their respective antigens based on computational dockings like HADDOCK explaining encouraging results characterized by good docking scores accompanied by low RMSDs—also, dual targeting approaches combined with structure-based. By developing humanized antibodies and novel targeting moieties, challenges such as immunogenicity and non-specific toxicity have been tackled. Our findings suggest that optimized immunotoxins
have great potential to enhance therapeutic window as well as efficacy in cancer treatments

Abstract Background: The ASPN gene encodes a cartilage extracellular protein (Asporin) that is known to be involved in the pathological paths of osteoarthritis (OA). Many research efforts have explored the link between aspartic acid D-repeat polymorphism in the asporin (ASPN) gene and the risk of OA susceptibility, yet the findings are inconsistent. Our study involved a case-control analysis to examine the relationship between D allele polymorphism in asporin and primary hip osteoarthritis (HOA) among the Iranian population.
Methods: The asporin D repeat polymorphism was genotyped in primary HOA patients (N=70) and healthy controls (N=70). Each group consisted of 28 women and 42 men. Patients were classified into three subgroups based on the radiographic severity of osteoarthritis. Statistical analysis was performed on gender, severity, and primary HOA position.
Odds ratios (ORs) along with 95% confidence intervals (95% CIs) were utilized to assess the association between D-repeats in the ASPN gene and primary hip osteoarthritis.
Results: Three common D-repeat variants (D13, D14, and D15) of the ASPN gene were obtained. The most frequent allele in the patient group was observed at D13, while it was D15 among controls. In both cohorts, the least frequent allele was D14. Our findings indicate no statistically significant association between any D-repeats with primary HOA according to the sex of patients or the severity of the disease.
Conclusion: Our findings indicate that polymorphisms in the ASPN D-repeat are not linked to a higher risk of primary hip osteoarthritis (HOA) in the Iranian population.  However, future large studies are needed to validate these findings.

Abstract Vitamin D (Vit D) ,as an antioxidant contributes to a wide range of diseases including obesity, type 2 diabetes, multiple sclerosis, and certain cancers that oxidative stress plays a vital role in their development. Excessive oxidative stress can damage to DNA and nucleotide pool. Base excision repair and house-cleaning enzymes can protect genome so that any disruption in expression of these genes indicates enhanced susceptibility risk for diseases like cancer. The present study was conducted aimed at evaluating the effect of Vit D on the expression of MYH and MTH1 as DNA repair genes, as well as effect of ViD treatment in Human Umbilical Vein Endothelial Cells (HUVEC) cell line. To do this, bioinformatics tools were used to predict the interaction of MTH1 and MYH with VDR as a specific transcription factor (TF) for  Vit D. The cell line was treated with VitD. Next, viability was evaluated using MTT assay. The mRNA expression of MTH1 and MYH was assessed using real-time PCR at 48h post-treatment with Vit D.  
Results of the study revealed that Vit D could regulate MTH1 and MYH  transcript expression directly through its specific TF; VDR. In response to VitD treatment a different alteration was observed in DNA repair, and non-canonical nucleotide repair genes. Findings of this study showed a new regulation of DNA repair genes in Vit D signaling pathway, and it may be a new perspective for the therapeutic effect of Vit D on related diseases. Variation in interested genes may affect the vitD signaling and personalized medicine should be considered.  

Abstract Free radicals are naturally produced in the body and are inhibited by the body’s antioxidants. The excessive production of free radicals and the inability of the body to remove them lead to oxidative stress in the body, which can lead to many diseases, including cancer. Nanoparticles are compounds that have been given much attention to cancer prevention and treatment, due to their specific biological characteristics and their small size. This study aimed to evaluate the cytotoxic and antioxidant potential of serum oxide nanoparticles synthesized using aqueous extract of Hyssopus officinalis.
To perform the MTT assay, first, the MDA-MB231 cancerous cells were cultured, seeded and then treated for 24, 48 and 72 hours. Subsequently, MTT was performed and finally, absorption at 517 nm was recorded. The antioxidant potential of the CeO-NPs was evaluated by estimating the amount of ABTS and DPPH free radicals inhibiting in different concentrations of nanoparticles.
The results showed that the CeO-NPs were able to inhibit the ABTS and DPPH free radicals with a mean concentration (IC50) of about 62 and 31.2 μg / ml. Also, the CeO-NPs inhibited cancer cells with IC50 of about 400 µg/ml, 48 hours after exposure. According to the antioxidant results obtained from this paper, it is suggested that by performing further experiments, this nanoparticle can be used as an antioxidant supplement.

Abstract Asthma is one of the most common non-communicable diseases characterized by reversible obstruction of airflow. It poses many problems for all age groups from infancy to old age. Various studies have shown that the occurrence of viral infections is associated with the severity of asthma symptoms so it can be prevented by controlling viral agents. In this study, the severity of the symptoms of persistent severe asthma with Haemophilus influenza infection was investigated. 31 patients with asthma with different degrees of disease were studied in this study. The results showed that in patients with asthma, the percentage of people with Haemophilus influenza was 71% and in 29% of other asthma cases, Haemophilus influenza virus was not observed. The relationship between asthma, cough and dyspnea with Haemophilus influenza infection showed that with increasing asthma symptoms, the severity of infection increases, and no significant association was observed between cough and dyspnea with Haemophilus influenza. Therefore, the results of this study clearly show that Haemophilus influenzae virus causes asthma symptoms to worsen in patients.

Abstract Background: Campylobacter, a zoonotic pathogen, is the primary bacterial agent responsible for gastrointestinal (GI) infections in humans. Domestic animals, including cattle, are reservoirs of this bacterium, and can be one of the main sources of infection transmission to humans. This study aimed to investigate the prevalence of Campylobacter species using a multiplex PCR assay in cattle in the Gorgan province.
Materials and Methods: A total of 200 fecal samples were collected from healthy dairy cattle and genus and species were identified using multiplex PCR.
Results: The frequency of the genus Campylobacter in 200 samples in our study was 17.5% (35 cases), C. jejuni and C. coli species were not identified in these 35 cases.
Conclusion: Isolating Campylobacter from animal fecal samples is a challenging process, but this study showed that Campylobacter contamination was relatively high in cattle in the Gorgan province, and its transmission to humans through meat consumption must be monitored.

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 This issue is related to the time when the magazine was published in Persian language. The magazine has been published in English since 2019. You can download all the articles.