Global Medical Genetics最新文献

{"title":"A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report.","authors":"Piero Pavone,&nbsp;Raffaele Falsaperla,&nbsp;Martino Ruggieri,&nbsp;Simona Domenica Marino,&nbsp;Enrico Parano,&nbsp;Xena Giada Pappalardo","doi":"10.1055/s-0043-1774291","DOIUrl":"https://doi.org/10.1055/s-0043-1774291","url":null,"abstract":"<p><p>Chromosome 21q deletion syndrome is a rare disorder affecting the long arm of chromosome 21 and manifesting with wide phenotypic features depending on the size and position of the deleted region. In the syndrome, three distinct deleted regions have been distinguished: region 1, from the centromere to approximately 31.2 Mb (21q11.2-q22.11); region 2, from 31.2 to 36 Mb (21q22.11-q22.12); and region 3, from 36 to 37.5 Mb to the telomere (21q22.12-q22.3). The clinical features are highly variable manifesting with mild, poorly recognizable signs or with severe symptoms including craniofacial dysmorphism, growth failure, developmental delay, behavioral/affective abnormalities, and systemic malformations. We report here the case of a young boy with speech delay, mild spastic diplegia, and brain anomalies on magnetic resonance imaging (MRI). The genetic analysis displayed a microdeletion of the long arm of chromosome 21 approximately extending up to 1.08 Mb. Clinical presentation of the patient and cases of 21q21 deletion reported by the literature are discussed.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"234-239"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10208762","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":"Molecular Epidemiology of HCV RNA Genotype-3 in Dhaka City, Bangladesh.","authors":"Md Arifur Rahman,&nbsp;Md Monirul Islam,&nbsp;Md Eunus Ali,&nbsp;Mohammad Ariful Islam,&nbsp;Farhana Afroze,&nbsp;Mohammad Shamim Hossain,&nbsp;Ahmed Abu Rus'd","doi":"10.1055/s-0043-1771182","DOIUrl":"https://doi.org/10.1055/s-0043-1771182","url":null,"abstract":"<p><p>Hepatitis C virus (HCV) is a causative agent that causes chronic liver diseases worldwide. It is a little, enclosed, single-stranded ribonucleic acid (RNA) virus. The recognition of the pathogenic HCV genotype is critical for the remedy of its sufferers. The aim of this study was to identify the HCV RNA genotype to decide the correct treatment of hepatitis C positive sufferers in Bangladesh. Blood samples were collected from 390 individuals and isolated RNA (60 µg) from blood plasma. Extracted RNA was used for quantitative HCV RNA, and complementary DNA (cDNA) was prepared by polymerase chain reaction (PCR) conducted by reverse transcriptase enzyme. This cDNA amplified in multiplex by RT-PCR, which was performed with specific set of primers. The HCV RNA genotype was detected 297 of 390 patients. Of the 390 test samples, 200 (51.28%) samples were from males and 190 (48.71%) were from females, with age ranging from 5 to 78 years. In all, 166 of 200 male samples and 131/190 female samples were found positive for HCV. Of these 390 participants included in the study, 213 (54.61%) were identified as genotype 3 positive, 78 (20%) as genotype 1 positive, 6 (1.53%) as genotype 6 positive, and the remaining 93 (23.85%) samples were unclassified due to low/undetected viral load. In this study, we detected the highest percentage (30.89%) of genotype 3 HCV in patients aged 51 to 60 years. The results suggested that genotype 3 HCV is frequently present in Bangladesh and it is usually responses better to interferon therapy. However, genotype 1 and 6 HCV have also been found circulating in this country, which demands longer treatments and effective control measures.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"199-204"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9979196","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":"Identification of Plasma Thrombopoietin Level and Its Significance in Patients with Aplastic Anemia and Myelodysplastic Syndrome.","authors":"Mengying Zhang,&nbsp;Gaochao Zhang,&nbsp;Fangfang Xu,&nbsp;Mengyuan Liu,&nbsp;Xifeng Dong,&nbsp;Weiwei Qi,&nbsp;Huaquan Wang","doi":"10.1055/s-0043-1771456","DOIUrl":"https://doi.org/10.1055/s-0043-1771456","url":null,"abstract":"<p><p><b>Objective</b>  Our objective was to investigate the concentration of plasma thrombopoietin (TPO) in patients with aplastic anemia (AA) and myelodysplastic syndrome (MDS), as well as its relationship with patients' responses to recombined human TPO (rhTPO) therapy. <b>Methods</b>  We detected the concentration of plasma TPO in 31 patients with AA, 27 patients with MDS, and 11 normal controls using enzyme-linked immunosorbent assay. <b>Results</b>  The median concentration of plasma TPO in patients with AA, MDS, and controls was (841.08 ± 768.64), (212.41 ± 338.93), and (35.09 ± 18.21) pg/mL, respectively. The TPO concentration in patients with AA and MDS was significantly higher than that in controls ( <i>p</i>  < 0.05). The median platelet (PLT) counts were (184 ± 34) ×10 ⁹ /L in the control group and (24 ± 19) ×10 ⁹ /L and (80 ± 71) ×10 ⁹ /L in AA and MDS patients, respectively. Negative correlations were found between plasma TPO concentration and PLT counts as well as megakaryocytes in bone marrow ( <i>p</i>  < 0.05). In AA patients treated with rhTPO, a negative correlation was observed between increased PLT counts and pretreatment TPO levels ( <i>p</i>  < 0.05). <b>Conclusion</b>  Plasma TPO concentration in AA and MDS was significantly higher than that in normal controls. Plasma TPO was negatively correlated with peripheral blood PLT counts and bone marrow megakaryocyte counts. The pretreatment TPO level may serve as a prognostic indicator for the therapeutic effect of rhTPO in AA patients.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"194-198"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9970187","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":"Fisetin's Promising Antitumor Effects: Uncovering Mechanisms and Targeting for Future Therapies.","authors":"Eskandar Qaed,&nbsp;Bandar Al-Hamyari,&nbsp;Ahmed Al-Maamari,&nbsp;Abdullah Qaid,&nbsp;Haneen Alademy,&nbsp;Marwan Almoiliqy,&nbsp;Jean Claude Munyemana,&nbsp;Murad Al-Nusaif,&nbsp;Jameel Alafifi,&nbsp;Eman Alyafeai,&nbsp;Mohammed Safi,&nbsp;Zhaohong Geng,&nbsp;Zeyao Tang,&nbsp;Xiaodong Ma","doi":"10.1055/s-0043-1772219","DOIUrl":"https://doi.org/10.1055/s-0043-1772219","url":null,"abstract":"<p><p><b>Background</b>  Cancer remains a critical global health challenge and a leading cause of mortality. Flavonoids found in fruits and vegetables have gained attention for their potential anti-cancer properties. Fisetin, abundantly present in strawberries, apples, onions, and other plant sources, has emerged as a promising candidate for cancer prevention. Epidemiological studies linking a diet rich in these foods to lower cancer risk have sparked extensive research on fisetin's efficacy. <b>Objective</b>  This review aims to comprehensively explore the molecular mechanisms of fisetin's anticancer properties and investigate its potential synergistic effects with other anticancer drugs. Furthermore, the review examines the therapeutic and preventive effects of fisetin against various cancers. <b>Methods</b>  A systematic analysis of the available scientific literature was conducted, including research articles, clinical trials, and review papers related to fisetin's anticancer properties. Reputable databases were searched, and selected studies were critically evaluated to extract essential information on fisetin's mechanisms of action and its interactions with other anticancer drugs. <b>Results</b>  Preclinical trials have demonstrated that fisetin inhibits cancer cell growth through mechanisms such as cell cycle alteration, induction of apoptosis, and activation of the autophagy signaling pathway. Additionally, fisetin reduces reactive oxygen species levels, contributing to its overall anticancer potential. Investigation of its synergistic effects with other anticancer drugs suggests potential for combination therapies. <b>Conclusion</b>  Fisetin, a bioactive flavonoid abundant in fruits and vegetables, exhibits promising anticancer properties through multiple mechanisms of action. Preclinical trials provide a foundation for further exploration in human clinical trials. Understanding fisetin's molecular mechanisms is vital for developing novel, safe, and effective cancer prevention and treatment strategies. The potential synergy with other anticancer drugs opens new avenues for combination therapies, enhancing cancer management approaches and global health outcomes.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"205-220"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9979192","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":"BL-MOL-AR Project, Preliminary Results about Liquid Biopsy: Molecular Approach Experience and Research Activity in Oncological Settings.","authors":"Alessandro Pancrazzi,&nbsp;Francesco Bloise,&nbsp;Alice Moncada,&nbsp;Roberta Perticucci,&nbsp;Stefania Vecchietti,&nbsp;Francesca Pompili,&nbsp;Francesca Ricciarini,&nbsp;Silvia Lenzi,&nbsp;Cristina Gatteschi,&nbsp;Sabrina Giusti,&nbsp;Maria Pia Rosito,&nbsp;Sabrina Del Buono,&nbsp;Paola Belardi,&nbsp;Alessandra Bruni,&nbsp;Filippo Borri,&nbsp;Andrea Campione,&nbsp;Lorella Laurini,&nbsp;Rossella Occhini,&nbsp;Loretta Presenti,&nbsp;Viviana Viticchi,&nbsp;Maja Rossi,&nbsp;Sara Bardi,&nbsp;Antonio D'Urso,&nbsp;Simona Dei,&nbsp;Duccio Venezia,&nbsp;Raffaele Scala,&nbsp;Carmelo Bengala,&nbsp;Nicola Libertà Decarli,&nbsp;Andrea Carnevali,&nbsp;Carlo Milandri,&nbsp;Agostino Ognibene","doi":"10.1055/s-0043-1771193","DOIUrl":"https://doi.org/10.1055/s-0043-1771193","url":null,"abstract":"<p><p><b>Background</b>  Liquid biopsy is mainly used to identify tumor cells in pulmonary neoplasms. It is more often used in research than in clinical practice. The BL-MOL-AR study aims to investigate the efficacy of next-generation sequencing (NGS) and clinical interpretation of the circulating free DNA (cfDNA) levels. This study reports the preliminary results from the first samples analyzed from patients affected by various neoplasms: lung, intestinal, mammary, gastric, biliary, and cutaneous. <b>Methods</b>  The Biopsia Liquida-Molecolare-Arezzo study aims to enroll cancer patients affected by various malignancies, including pulmonary, intestinal, advanced urothelial, biliary, breast, cutaneous, and gastric malignancies. Thirty-nine patients were included in this preliminary report. At time zero, a liquid biopsy is executed, and two types of NGS panels are performed, comprising 17 genes in panel 1, which is already used in the routine tissue setting, and 52 genes in panel 2. From the 7th month after enrollment, 10 sequential liquid biopsies are performed up to the 17th month. The variant allele frequency (%) and cfDNA levels (ng/mL) are measured in every plasmatic sample. <b>Results</b>  The NGS results obtained by different panels are similar even though the number of mutations is more concordant for lung pathologies. There are no significant differences in the actionability levels of the identified variants. Most of the molecular profiles of liquid biopsies reflect tissue data. <b>Conclusions</b>  Preliminary data from this study confirm the need to clarify the limitations and potential of liquid biopsy beyond the lung setting. Overall, parameters related to cfDNA levels and variant allele frequency could provide important indications for prognosis and disease monitoring.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"172-187"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10184757","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":"IL-10 Polymorphism and Breast Cancer Risk in Georgian Women: A Case-Control Study.","authors":"Saba Ahmadi,&nbsp;Sandro Surmava,&nbsp;Eka Kvaratskhelia,&nbsp;Elene Abzianidze,&nbsp;Ketevani Kankava","doi":"10.1055/s-0043-1770957","DOIUrl":"https://doi.org/10.1055/s-0043-1770957","url":null,"abstract":"<p><p><b>Background</b>  Interleukin-10 (IL-10) is a cytokine with a vast variety of functions, but its role in cancer development and progression is not yet clear. It is involved in two of the hallmarks of cancer: vascularization and immune modulation. IL-10 inhibits angiogenesis and hence is antitumorigenic. But it also can suppress the immune system and be tumorigenic. <b>Objective</b>  Evaluating the role of IL-10 (-1082 A/G) gene promoter single-nucleotide polymorphism (SNP) in breast cancer susceptibility and progression in Georgian women. <b>Methods</b>  A case-control study was performed on a total of 128 women, with 64 of them being histologically confirmed to have breast cancer and 64 healthy controls. SNP genotyping was performed with TaqMan assay with real-time polymerase chain reaction. And pathology report, containing proliferative activity and breast cancer hormonal status, was obtained after surgery of the case individuals. Statistical analysis was done to investigate the significance of data obtained from genotyping and histology reports. <b>Results</b>  Statistical analysis revealed that the difference in frequency of genotypes was not statistically significant between cases and controls (chi-square = 0.5812, <i>p</i>  = 0.7478). The comparison of proliferative activity of cases with AA genotypes and AG/GG genotypes showed no statistical difference ( <i>t</i>  = 0.2575, <i>p</i>  = 0.7980). Although when put into a plot (box and whiskers), patients with AG/GG genotype have outliers with very high proliferative activity. <b>Conclusion</b>  This study shows that -1082 A/G SNP in the promoter region of the IL-10 gene is not associated with breast cancer risk in Georgian women.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"159-163"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10370466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10245235","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":"Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.","authors":"N Sreedevi,&nbsp;N Swapna,&nbsp;Santosh Maruthy,&nbsp;T Jayakumar,&nbsp;Charles Sylvester","doi":"10.1055/s-0043-1771184","DOIUrl":"https://doi.org/10.1055/s-0043-1771184","url":null,"abstract":"<p><p>Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain malformation with strong genetic heterogeneity. Other neurological features of JBTS include hypotonia, ataxia, developmental delay, and cognitive impairment. Hearing loss with JBTS has been reported in the literature. We present the case of a 3.5-year-old boy born to a healthy consanguineous South Indian couple who was presented with ataxic cerebral palsy (CP) and hearing impairment; medical reports confirmed typical brain malformations of JBTS. Hearing impairment was screened by audiological assessment, which confirmed the presence of severe-profound hearing loss with outer hair cell dysfunction. Whole-exome sequencing (WES) was performed to know the molecular aspects of the condition and to detect any novel mutations. The homozygous mutation <i>AHI1</i> c.2023G > A associated with JBTS type 3 and <i>GJB2</i> c.71G > A mutation associated with hearing impairment were identified. Sanger sequencing was performed to validate the result and it identified heterozygous <i>AHI1</i> c.2023G > A and <i>GJB2</i> c.71G > A in the patient's parents. This study confirms the diagnosis of JBTS by WES helps identify the genetic causes of hereditary disorders that accelerate genetic evaluation and counseling for at-risk families.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 3","pages":"190-193"},"PeriodicalIF":1.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10370468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9941495","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":"Role of Molecular Targeted Therapeutic Drugs in Treatment of Glioblastoma: A Review Article.","authors":"Himanshu Singh","doi":"10.1055/s-0043-57028","DOIUrl":"https://doi.org/10.1055/s-0043-57028","url":null,"abstract":"Abstract Glioblastoma is remarkably periodic primary brain tumor, characterizing an eminently heterogeneous pattern of neoplasms that are utmost destructive and threatening cancers. An enhanced and upgraded knowledge of the various molecular pathways that cause malignant changes in glioblastoma has resulted in advancement of numerous biomarkers and the interpretation of various agents that pointedly target tumor cells and microenvironment. In this review, literature or information on various targeted therapy for glioblastoma is discussed. English language articles were scrutinized in plentiful directory or databases like PubMed, ScienceDirect, Web of Sciences, Google Scholar, and Scopus. The important keywords used for searching databases are “Glioblastoma,” “Targeted therapy in glioblastoma,” “Therapeutic drugs in glioblastoma,” and “Molecular targets in glioblastoma.”","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 2","pages":"42-47"},"PeriodicalIF":1.7,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9383913","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":"Enabling Real-World Data to Accelerate the Development of Innovative Cancer Biomarkers.","authors":"Chen Yeh","doi":"10.1055/s-0043-1768993","DOIUrl":"https://doi.org/10.1055/s-0043-1768993","url":null,"abstract":"<p><p>The molecular diagnostics industry has historically relied on sanitized clinical trials and commoditized data sources to inform its biomarker discovery and validation process-an under-substantiated approach that was ultra-expensive, resource-consuming and did not reflect how representative a new biomarker would be in broader patient populations. In an effort to gain more accurate insight into the patient experience and bring innovative biomarkers to market more efficiently and accurately, the industry is now expanding into extended real-world data. To access the needed breadth and depth of patient-centric data, diagnostic companies must collaborate with a healthcare data analytics partner that has three key assets: (i) a broad and deep megadata with metadata, (ii) a data-rich provider network, and (iii) an outcomes-improvement engine to support the next generation of molecular diagnostics (Dx) and therapeutics (Rx) development.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 2","pages":"97-100"},"PeriodicalIF":1.7,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9526500","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 Interleukin-1 Receptor Antagonist ( <i>IL-1RA</i> ) Gene Polymorphism with Community-Acquired Pneumonia in North Indian Children: A Case-Control Study.","authors":"Neha Verma,&nbsp;Shally Awasthi,&nbsp;Anuj K Pandey,&nbsp;Prashant Gupta","doi":"10.1055/s-0043-1770056","DOIUrl":"https://doi.org/10.1055/s-0043-1770056","url":null,"abstract":"<p><p><b>Background</b>  Community-acquired pneumonia (CAP) is the leading cause of death in children < 5 years of age. The primary objective of the study was to assess the association of <i>IL-1RA</i> gene polymorphism in children aged 2 to 59 months with CAP and the secondary objective was to assess the association of gene polymorphism with mortality among hospitalized CAP cases. <b>Study Design</b>  This case-control study was conducted in a tertiary teaching institute in Northern India. Hospitalized children aged 2 to 59 months with World Health Organization-defined CAP were included as cases after parental consent. Age-matched healthy controls were recruited from the immunization clinic of the hospital. Genotyping was done using polymerase chain reaction to analyze the variable number of tandem repeats of <i>IL-1RA</i> gene polymorphism. <b>Result</b>  From October 2019 to October 2021, 330 cases (123, 37.27% female), and 330 controls (151, 45.75% female) were recruited. Genotype A2/A2 of the <i>IL-1RA</i> gene was found to be associated with the increased risk for CAP children with adjusted odds ratio (AOR) of 12.24 (95% confidence interval [CI] 5.21-28.7, <i>p</i>  < 0.001). A2 and A4 alleles were also found to be at risk for CAP. A1/A2 genotype was found to be protective for CAP with an AOR of 0.29 (95% CI 0.19-19.0.45). The genotype A2/A2 and A2 allele of <i>IL-1RA</i> gene was associated with child mortality with CAP cases. <b>Conclusion</b>  In <i>IL1RA</i> gene, A2/A2 genotype and A2 allele were associated with increased risk of CAP and A1/A2 were found to be protective for CAP. The genotype A2/A2 and A2 was associated with CAP mortality.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"10 2","pages":"109-116"},"PeriodicalIF":1.7,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9716287","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}