Indian Journal of Clinical Biochemistry最新文献

{"title":"Therapeutic Potential of High Dose Vitamin C in Cancer: Mechanisms, Clinical Evidence and Future Directions.","authors":"Ragini D Singh, Deepak N Parchwani, Gaurav Sharma, Praveen Sharma","doi":"10.1007/s12291-025-01341-0","DOIUrl":"10.1007/s12291-025-01341-0","url":null,"abstract":"<p><p>High-dose vitamin C (HDVC) has emerged as a potential adjunct for cancer treatment because of its selective toxicity against malignant cells. When administered at pharmacological concentrations, it typically operates as a pro-oxidant, generating hydrogen peroxide, which predominantly targets cancer cells with weakened antioxidant defenses. The anticancer mechanisms of HDVC extend beyond oxidative stress and include: (1) disruption of glycolytic metabolism in tumors that exhibit the Warburg effect, (2) epigenetic modulation via TET enzyme activation, (3) degradation of hypoxia-inducible factors, and (4) boosting of immune surveillance. Preclinical studies have demonstrated that HDVC enhances the effectiveness of conventional therapies such as chemotherapy and radiotherapy by intensifying DNA damage and overcoming treatment resistance. Results from clinical trials in pancreatic, colorectal, and hematologic malignancies showed improved tolerability of standard regimens when combined with HDVC and reduced chemotherapy-associated toxicity in 40% of patients. However, the clinical outcomes remain inconsistent, with response rates ranging from 20 to 60%. Key challenges include rapid renal clearance, lack of standardized dosing protocols, and patient selection criteria. Emerging solutions include nanoparticle delivery systems and biomarker-guided approaches targeting tumors with specific vulnerabilities (e.g., KRAS mutations and TET2 deficiencies).This review aims to provide a comprehensive analysis of the mechanistic details of this versatile molecule at pharmacological doses as an adjunct to cancer treatment, preclinical and clinical evidence on HDVC in cancer treatment, and identify key challenges limiting its clinical translation and futuristic measures to fully exploit this molecule for its therapeutic efficacy. Although not as a standalone therapy, HDVC's safety profile and multimodal operational mechanisms support its integration into personalized treatment paradigms. Future research should focus on optimizing administration protocols, verifying predictive biomarkers, and developing novel combinatorial approaches to fully exploit therapeutic capabilities.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 5","pages":"648-682"},"PeriodicalIF":1.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13550287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pyrethroid Levels Amplify Asthma Severity in Children via Elevating Eosinophils, IgE, and Compromising Lung Function.","authors":"Shivani Singh, Juhi Verma, Manish Raj Kulshrestha, Aditi Singh, Shetanshu Srivastava, Vandana Tiwari","doi":"10.1007/s12291-024-01285-x","DOIUrl":"10.1007/s12291-024-01285-x","url":null,"abstract":"<p><p>Pesticide exposure in children, particularly through inhalation, is known to exacerbate asthma and contribute to its development, often originating from indoor sources and residues. This study investigates the levels of various pesticides (organophosphate, organochlorine, and pyrethroid groups) and their association with allergic markers such as eosinophils and IgE levels, as well as airway obstruction, specifically forced expiratory volume (FEV1), in asthmatic children compared to controls. A total of 200 participants, including 100 asthmatic children and 100 age- and gender-matched controls, were enrolled. Serum pesticide levels were quantified using gas chromatography-tandem mass spectrometry, while IgE levels were assessed by immunoturbidimetry assay. Eosinophil counts were measured using a 5-part hematology analyzer (Abbott Alinity h-series), and FEV1 was evaluated with a Spirolab device. Among 140 screened pesticides, four pyrethroids-metofluthrin, allethrin, imiprothrin, and transfluthrin were identified and their levels found significantly higher in asthmatic children compared to controls (<i>p</i> < 0.05). Increased eosinophil counts, elevated serum IgE levels, and reduced FEV1 were observed in asthmatic children (<i>p</i> < 0.05). Positive correlations were found between eosinophil and IgE levels with metofluthrin (r = 0.40, <i>p</i> < 0.0001; r = 0.39, <i>p</i> < 0.0001), allethrin (r = 0.45, <i>p</i> < 0.0001; r = 0.47, <i>p</i> < 0.0001), and imiprothrin (r = 0.498, <i>p</i> < 0.0001; r = 0.401, <i>p</i> < 0.0001), transfluthrin (r = 0.31, <i>p</i> = 0.038; r = 0.36, <i>p</i> = 0.006). The results indicate that exposure to common household pesticides such as transfluthrin, allethrin, metofluthrin, and imiprothrin triggers allergic reactions and exacerbates asthma severity in children.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at https://doi.org/10.1007/s12291-024-01285-x.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 5","pages":"746-755"},"PeriodicalIF":1.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13550390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tissue Inhibitor of Metalloproteinase 2 (TIMP 2) Promotor 418 G > C Polymorphism in Non-alcoholic Fatty Liver Disease (NAFLD) Patients of Eastern States of India.","authors":"Aalia Tahseen, Suchitra Kumari, Manaswini Mangaraj, Manas Kumar Panigrahi","doi":"10.1007/s12291-024-01287-9","DOIUrl":"10.1007/s12291-024-01287-9","url":null,"abstract":"<p><p>Tissue Inhibitor of Metalloproteinases 2 (TIMPs) prevent breakdown of extracellular matrix and is known for its role in fibrosis. The present study evaluated TIMP2 promoter site - 418G > C polymorphism and risk of non-alcoholic fatty liver disease (NAFLD) in Eastern India population. In this case control study 100 clinically diagnosed NAFLD patients and 100 apparently healthy participants were enrolled and TIMP 2 Promotor (rs8179090418) G > C Polymorphism was studied using PCR-RFLP method with BsoBI Restriction enzyme. The association between genotypes and NAFLD risk was analyzed by odds ratio with 95% confidence interval. The frequencies of GG, GC and CC genotypes were 81%, 15% and 4% and 71%, 27% and 2% in NAFLD cases and control respectively. In dominant model, CC genotype was found to be associated with 2.05fold high risk of NAFLD (<i>p</i> value 0.046). C allele at TIMP2 promoter site -418 G > C when compared with G allele, odds ratio was 0.708; <i>p</i> = 0.243. A significant difference (<i>p</i> < 0.005) was found in weight, BMI, waist/ hip circumference, systolic/diastolic blood pressure, fasting plasma insulin, FPG, HbA1c, AST, ALT, GGT, total cholesterol and LDLc levels in CC genotype when compared with GG (wild type). In conclusion, TIMP2 gene Promotor (rs8179090418) 418 G > C polymorphism in population of Eastern states of India shows an increased risk of NAFLD in CC + GC genotype in comparison to wild type. TIMP2 gene 418 G > C polymorphism had an impact on metabolic alterations suggestive of NAFLD progression.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 5","pages":"756-764"},"PeriodicalIF":1.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13550275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of Association of TYK2-P1104A Variant in Systemic Lupus Erythematosus Patients With or Without Tuberculosis.","authors":"Challa Madhuri, Gunjan Sharma, Vijay K Kutala, G K Paramjyothi, M V S Subbalaxmi, Liza Rajasekhar","doi":"10.1007/s12291-024-01276-y","DOIUrl":"10.1007/s12291-024-01276-y","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a complex disorder involving a hyperactive immune system. SLE is debilitating, with limited options for treatment. Recent advances in understanding the disease, its etiology, and genetics have made management more efficient. There has been a paradigm shift in the treatment over the past few decades from symptomatic management to the recent exciting reports of drug-free remission. Thus, detecting factors contributing to or protecting against the disease is paramount for better-personalized medicine. Additionally, infections due to SLE account for a majority of morbidity and mortality. Tuberculosis (TB) is one of the prevalent chronic infections that affect SLE patients, although the prevalence as well as mortality is high in countries in which TB is endemic. TYK2 (non-receptor tyrosine-protein kinase) is essential in generating immune responses by developing pro-inflammatory cytokines. P1104A mutation in TYK2 is a missense mutation and impairs the normal functioning of TYK2, in turn impairing the production/action of pro-inflammatory cytokines. TYK2-P1104A is beneficial in SLE patients and has a protective effect. However, due to impaired generation of cytokines and diminished response against TB, the possibility of TYK2-P1104A mutation in TB patients is high. The literature also points to the fact that the frequency of this allele is low in different populations, and the data related to its clinical effects is limited. Our study found no TYK2-P1104A allele in SLE patients, SLE patients who have TB, and TB patients, as well as healthy controls.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 5","pages":"805-810"},"PeriodicalIF":1.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13550381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural Cell Adhesion Molecule-1 Gene Polymorphism Increases the Risk of Cognitive Dysfunction in Schizophrenia Spectrum Disorder.","authors":"Neha Keshri, Hanumanthappa Nandeesha, Medha Rajappa, Vikas Menon","doi":"10.1007/s12291-024-01290-0","DOIUrl":"10.1007/s12291-024-01290-0","url":null,"abstract":"<p><p>Neural cell adhesion molecule-1 (NCAM-1), a marker of synaptic plasticity is reported to be altered and associated with cognitive dysfunction in schizophrenia. The aim of the study was to analyse the allele and genotype frequency of neural cell adhesion molecule-1 (NCAM-I) gene polymorphism (rs1836796, rs2303377, rs584427, rs646558) and plasma NCAM-I levels in schizophrenia and their association with cognitive function. Two hundred and sixteen (216) schizophrenia patients and 216 controls were enrolled in the study. NCAM-I polymorphism and its plasma levels were analysed in cases and controls. Cognitive status was evaluated using ACE-III scores. The rs 1836796 genotype was associated with cognitive status (p = 0.011) in schizophrenia. Among the genotypes of rs 1836796, the TT variant (OR: 2.193, 95% CI: 1.097-4.386, p = 0.0292) conferred a potential increased risk of schizophrenia. Attention score (p < 0.05), memory score (p < 0.01), fluency score (p < 0.01), language score (p < 0.01), Visuospatial abilities score (p < 0.01) and total ACE III scores (p < 0.01) were significantly reduced; negative symptom score (p < 0.01), general psychopathological Score (p < 0.01) and total PANSS score (p < 0.01) was significantly increased in TT genotype compared to GG genotype. We conclude that single nucleotide polymorphisms of NCAM-I increase the risk of schizophrenia and are related to severity of the disease and cognitive impairment.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at https://doi.org/10.1007/s12291-024-01290-0.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 5","pages":"792-798"},"PeriodicalIF":1.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13550356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Higher Incidence of Anemia and Clinical Utility of Indices of Iron Homeostasis in Newly Diagnosed Breast Cancer Patients: A Cross-Sectional Study from a Regional Oncology Centre of South India.","authors":"Renuka Parameswari, Zachariah Bobby, Smita Kayal, M Prabhu, Yadav Nisha, Kamila Thalapalliyil","doi":"10.1007/s12291-024-01262-4","DOIUrl":"10.1007/s12291-024-01262-4","url":null,"abstract":"<p><p>Higher prevalence of anemia in breast cancer may lead to higher morbidity and mortality. The incidence and possible causes of anemia and the clinical value of the indices of iron homeostasis among the Indian breast cancer patients are discussed. Forty-two healthy controls and thirty-nine newly diagnosed breast cancer patients were recruited for the study. Serum hepcidin and high-sensitive C-reactive protein were assayed by ELISA. Ferritin and Iron levels were assessed by chemiluminescence and colorimetric methods in clinical chemistry analysers (Beckman Coulter DXI 600 & AU5811). Statistical analyses were carried out either by independent student T test or by Mann-Whitney U Test as per distribution of the data. Eighty seven percent of the newly diagnosed breast cancer patients were anaemic. Hepcidin, hsCRP, and ferritin were elevated significantly among breast cancer patients. However, levels of ferritin still remained at the lowest level of the normal range among the patients with breast cancer. There was significant reduction in serum iron among breast cancer patients. Serum iron levels were lesser than the normal range among both the healthy control and breast cancer patients. The ROC curve analyses revealed that Hb and hepcidin are useful in the differentiation of breast cancer from healthy control with AUC of 91% and 82% respectively. The higher incidence of anemia among Indian breast cancer patients could be interpreted from the coexistence of anemia of chronic inflammation and nutritional iron deficiency anemia. Hb and hepcidin are useful in the differentiation of breast cancer from healthy control.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 4","pages":"606-612"},"PeriodicalIF":1.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148584224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Neutralizing Antibodies Against COVID-19: The Impact of Vaccination in Western Rajasthan.","authors":"Varsha Choudhary, P K Khatri, Palak Khinvasara, G K Aseri, Neelam Jain","doi":"10.1007/s12291-024-01258-0","DOIUrl":"10.1007/s12291-024-01258-0","url":null,"abstract":"<p><p>The COVID-19 pandemic has been a major public health disaster, wreaking havoc on people's finances, physical health, and emotional well-being. However, many cases go undetected because they are asymptomatic. The purpose of the study is to identify neutralizing antibodies against COVID-19 in Western Rajasthan, India before and after three months of vaccination among the study participants. The study collected blood samples from unvaccinated individuals willing to participate at a vaccination center between September 2021 and December 2021. Those on immunosuppressants or already vaccinated with a COVID-19 dose were excluded. Blood group and neutralizing antibody levels were determined using standard protocols. Statistical analysis was conducted to assess correlations between demographic and clinical features with neutralizing antibody positivity. The study found a significant increase in neutralizing antibody levels after COVID-19 vaccination for both Covishield and Covaxin recipients, as well as those previously vaccinated with Bacillus Calmette-Guérin (BCG), highlighting the vaccines' effectiveness in boosting immunity. The results underscore the importance of COVID-19 vaccination in enhancing immune response in individuals with prior infection. Covishield produces higher vaccine-induced IgG antibodies than Covaxin. BCG-vaccinated individuals show higher COVID-19 neutralizing antibodies post-vaccination.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 4","pages":"533-542"},"PeriodicalIF":1.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148584062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum-Based Biomarker Panels are Crucial Tools for the Early Detection of Lung Cancer in High-Risk Individuals in North Indian Population.","authors":"Santosh Kumar, Seema Singh, Sunita Singh, Surya Kant, Ajay Kumar Verma","doi":"10.1007/s12291-024-01267-z","DOIUrl":"10.1007/s12291-024-01267-z","url":null,"abstract":"<p><p>Lung cancer is the leading cause of cancer death in most countries. Although early diagnosis and treatment critically influence prognosis, lung cancers are generally only discovered in the late stages of the disease .Widely-used screening and diagnostic methods are not suitable for preventive screening, and high-throughput technologies based on serum biomarkers are needed. The aim of the study was to evaluate the clinical diagnostic value of combined detection of serum CEA, CYFRA21-1, CRP, and prolactin Gene in lung cancer. The study involved a total of 274 participants, divided into three distinct groups: 123 lung cancer patients, 52 patients with benign lung disease, and 99 healthy controls. These participants were selected based on predefined inclusion and exclusion criteria.5 ml of venous blood samples were taken from all participants and it was collected in a test tube containing anticoagulant and then centrifuged at 3000 rpm for 10 minutes. Serum was separated and used to measure the amount of CEA, CYFRA21-1, CRP, and prolactin Gene using ELISA method. The results showed that the serum levels of CEA, CYFRA21-1, CRP, and prolactin in the malignant group were significantly higher than those in the benign and healthy groups (P0.05), and CYFRA21-1 in non-small cell carcinoma was significantly higher than that in small cell carcinoma (P0.05). However, there were significant differences in the levels of CEA and prolactin in different TMN stages (P0.05). A panel of CEA, CYFRA21-1, CRP, and prolactin Gene was found as promising serum biomarkers for the diagnosis of LC with relatively high sensitivity and specificity. CEA, CYFRA21-1, CRP, and prolactin Gene combined biomarker panel holds potential for rapid screening and improving the diagnosis of early-stage LC, thus potentially alsoimproving its prognosis.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12291-024-01267-z.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 4","pages":"543-555"},"PeriodicalIF":1.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148584158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miR-30b-5p Promotes Medulloblastoma Cell Proliferation by Regulating Stem Cell Factors NANOG, BMI1, Tumor Suppressor Gene P53 and the Shh-Gli1 Pathway.","authors":"Swalih P Ahmed, Mehdi H Shahi","doi":"10.1007/s12291-024-01274-0","DOIUrl":"10.1007/s12291-024-01274-0","url":null,"abstract":"<p><p>Medulloblastoma (MB), a malignant tumour arising in the brain, exhibits distinct microRNA expression patterns. One such microRNA, miR-30b-5p, has been relatively unexplored in its function within MB cells. This study investigates the regulatory role of miR-30b-5p in MB cells, particularly its influence on the Sonic Hedgehog signaling pathway through Gli1 mediation. Daoy MB cells were transfected with miR-30b-5p, a miR-negative control, or left Untreated. Cell proliferation assays, Reverse transcription PCR, and RT-qPCR were conducted to assess cell growth and target gene expression. The findings revealed that miR-30b-5p regulates DAOY cell growth at 48 and 72 h after transfection, but exhibits an inhibitory effect at 24 h compared to the miR-Negative Control group. Furthermore, the expression of genes GLI1, BMI1, P53, and NANOG was examined. At 24 h, these genes displayed lower expression in the miR-30b-5p group. Conversely, at 48 h, BMI1 and P53 expression continued to decrease, while GLI1 and NANOG showed increased expression compared to the miR-negative control group. In conclusion, the upregulation of miR-30b-5p resulted in decreased apoptosis and enhanced medulloblastoma proliferation. This effect was mediated through the positive regulation of Gli1 via the Sonic Hedgehog pathway, leading to increased expression of GLI1 and NANOG. These findings suggest a potential role for miR-30b-5p as a therapeutic target in MB treatment.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 4","pages":"577-587"},"PeriodicalIF":1.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148584235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>MT1A</i> rs11640851, rs8052394 and rs11076161 Polymorphisms with the Risk of Developing Breast Cancer: A Haplotype-Based Case-Control Study and in Silico Analysis.","authors":"Maryam Shirvani, Arshia Yadollahi, Zahra Zamanzadeh, Morteza Abkar, Saghar Yousefnia","doi":"10.1007/s12291-025-01323-2","DOIUrl":"10.1007/s12291-025-01323-2","url":null,"abstract":"<p><p>Metallothionein 1 A (MT1a) is involved in many pathological conditions associated with antioxidant defense and detoxification, including cancer. The aim of this study was to investigate the possible association of <i>MT1A</i> rs11640851, rs8052394, and rs11076161 single nucleotide polymorphisms (SNPs) with the risk of breast cancer (BC) and clinicopathological features. The study included 100 patients with BC and 100 healthy controls. We genotyped the <i>MT1A</i> SNPs using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system PCR (ARMS-PCR) techniques. The genotypic and allelic associations of <i>MT1A</i> SNPs with susceptibility to BC were assessed using logistic regression analysis under co-dominant, dominant, and recessive inheritance models. The combined effect of <i>MT1A</i> SNPs on the BC risk was determined using the haplotype analysis. In silico analysis was performed using the Polyphen-2 and RNAsnp online servers. The rs11640851 was found to be associated with a reduced risk of BC in all three inheritance models (<i>P</i> < 0.05). We also found that rs11640851 A allele has a protective effect against BC (OR: 4.81; 95% CI: 2.65-8.72; <i>P</i> < 0.0001). For rs8052394/rs11076161, carriers of AG/AA combined genotype had a 3.84-fold increased risk for developing BC. Also, the haplotypes CAC and CGA (rs1164085, rs8052394, rs11076161) were significantly associated with BC susceptibility. The rs11640851 was predicted to be detrimental using Polyphen-2 server. This study provides the first evidence that rs11640851 is significantly associated with a reduced risk of BC suggesting its protective role in the development of BC. Two haplotypes CAC and CGA were also identified as risk factors for BC.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12291-025-01323-2.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"41 4","pages":"613-625"},"PeriodicalIF":1.5,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148584102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}