Genetic testing and molecular biomarkers最新文献

{"title":"Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis.","authors":"Tarnjeet Kaur, Shreya Singh Kashyap, Sumeet Arora, Jatinder Singh, Manpreet Kaur","doi":"10.1089/gtmb.2024.0082","DOIUrl":"10.1089/gtmb.2024.0082","url":null,"abstract":"<p><p><b><i>Background</i>:</b> Rheumatoid arthritis (RA) is a chronic, inflammatory autoimmune disease characterized by progressive destruction of peripheral joints. About 1% of the human population worldwide is suffering from this disease. The pathophysiology of RA is largely being influenced by immune dysregulation. Mannose-binding lectin (MBL), an acute-phase protein, has been reported to play an important role in pathogenesis of RA by the activation of complement pathway. Various studies documented the established the role of MBL in pathogenesis of various autoimmune diseases, including RA. MBL protein is encoded by gene <i>MBL2</i>, mapped on chromosome 10q11.2-q21. <b><i>Objective:</i></b> Both MBL serum levels and activity are mainly determined genetically by its variants. So considering the putative clinical role of <i>MBL2</i>, this case-control association study was designed to assess its six functional variants in a northwestern Indian cohort. <b><i>Methods:</i></b> Genetic typing of six <i>MBL2</i> variants was done by amplification refractory mutation system-polymerase chain reaction. Data were analyzed using suitable statistical tools. <b><i>Results:</i></b> Significant difference has been observed in genotypic and allelic distribution between cases and controls for rs11003125. Comparison of allelic distribution for rs1800450 showed significantly high prevalence of A allele in cases than controls. <b><i>Conclusion:</i></b> These results indicate that <i>MBL2</i> variants may act as plausible marker for susceptibility toward RA. Keeping this in view, it is pertinent to screen these variants in other population groups of India.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"360-366"},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A C->T Variation in 3'-Untranslated Region Elevates MED12 Protein Level in Breast Cancer That Relates to Better Prognosis.","authors":"Jianbin Chen, Tairen Wang, Weina Mu","doi":"10.1089/gtmb.2023.0641","DOIUrl":"10.1089/gtmb.2023.0641","url":null,"abstract":"<p><p><b><i>Objective:</i></b> Mediator complex subunit 12 (MED12) is among the most frequently mutated genes in various types of human cancers. However, there is still a lack of understanding regarding the role of MED12 in breast cancer patient. Therefore, the aim of this study is to explore the roles of MED12 in breast cancer. <b><i>Materials and Methods:</i></b> We utilized the UALCAN platform (http://ualcan.path.uab.edu/) for analyzing the transcriptional expression, protein expression, and protein phosphorylation data of MED12. Our study involved 35 breast cancer patients. From these samples, we extracted proteins and RNA. To obtain the sequence of MED12 3'-UTR, we performed reverse transcription-polymerase chain reaction and sequencing. We then used TargetScan to predict the miRNA targets of MED12 3'-UTR and confirmed the interactions between miRNAs and MED12 3'-UTR through dual luciferase assay. <b><i>Results:</i></b> The protein level of MED12 was upregulated in breast cancer, while the mRNA level did not show significant changes. Interestingly, higher levels of MED12 mRNA were associated with better prognosis, whereas patients with increased MED12 protein levels tended to have a poorer prognosis. Furthermore, through our analysis of the MED12 3'-UTR sequence, we identified a specific C->T variation that was unique to breast tumors. We also identified four miRNAs (miR-204, -211, -450 b, and -518a) that directly target MED12 3'-UTR. Most important, this C->T variation disrupts the interaction between MED12 3'-UTR and miR-450b, ultimately leading to the upregulation of MED12 in breast cancer. <b><i>Conclusion:</i></b> Our study revealed a significant finding regarding a mutation site in the MED12 3'-UTR that contributes to the upregulation of MED12 in breast cancer. This mutation disrupts the interactions between specific miRNAs and MED12 mRNA, leading to increased expression of MED12. These findings have important implications for breast cancer diagnosis, as this mutation site can serve as a potent biomarker.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"343-350"},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Study of 3-untranslated region Haplotype of Human leukocyte antigen-G Gene with Lupus.","authors":"Ihsan Alwan Chyad,Mehdi Haghi,Mohammad Khalaj Kondori,Mohammad Reza Ardalan,Mohammad Ali Hosseinpour Feizi","doi":"10.1089/gtmb.2024.0184","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0184","url":null,"abstract":"Background: Human leukocyte antigen-G (HLA-G) is a pivotal protein involved in immune regulation and tolerance, while systemic lupus erythematosus (SLE) is a multifaceted autoimmune condition influenced by genetic and environmental factors. Research indicates that variations and mutations in HLA-G may impact SLE development. Objective: This study aimed to explore the relationship between polymorphisms in the 3'-untranslated region (UTR) of the HLA-G gene and SLE. Methods: DNA from 100 SLE patients and 100 controls was analyzed using polymerase chain reaction to amplify the target sequence. Allele and genotype frequencies were determined, and haplotypes were assessed using Haploview v.4.2 software, with linkage disequilibrium calculated. Results: Findings revealed that the +2960 Ins allele was significantly linked to SLE as a risk factor, with the Del allele showing a protective effect. In addition, the +3010C allele and +3187A allele were significantly associated with SLE at both allele and genotype levels. The +3142 GG homozygote was notably linked to SLE at the genotype level. Haplotype analysis identified UTR-2 haplotypes as risk factors for SLE, whereas the UTR-1 haplotype was protective, shedding light on genetic factors influencing SLE risk. Conclusion: This study underscores the importance of HLA-G gene 3'-UTR polymorphisms in SLE susceptibility, suggesting their potential as diagnostic or therapeutic targets.","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"19 1","pages":"367-372"},"PeriodicalIF":1.4,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.","authors":"Nadezhda I Pavlova, Alexey V Krylov, Alexey A Bochurov, Vladislav A Alekseev, Khariton A Kurtanov","doi":"10.1089/gtmb.2024.0085","DOIUrl":"10.1089/gtmb.2024.0085","url":null,"abstract":"<p><p><b><i>Aims:</i></b> The purpose of this study was to study the correlation of the body weight of Yakuts with the variability of polymorphisms rs174537, rs174546 and rs3834458 of the <i>FADS1 - FADS2</i> region to identify the connection of certain genotypes with obesity. <b><i>Materials and Methods:</i></b> For genotyping, classical methods of PCR-RFLP analysis were used. A sample of 446 DNA samples from Yakut volunteers without chronic diseases (143 women and 303 men) was studied. <b><i>Results:</i></b> The predominance of the ancestral alleles of SNPs rs174537, rs174546 and rs3834458 was established in all of our studied groups. Analysis of the odds ratio of allele and genotype frequencies in patients with normal BMI, high BMI and obesity did not show statistically significant values. We did not find an association between rs174537, rs174546 and rs3834458 with obesity, but we did not take into account the diet of the subjects, which may have had a stronger effect on BMI. Analysis of pairwise linkage disequilibrium and assessment of haplotypes for 3 SNPs in the <i>FADS1</i> and <i>FADS2</i> genes showed strong linkage of all three SNPs to each other (<i>r²</i> = 0.93-0.96). <b><i>Conclusions:</i></b> According to the result of genotyping of SNP rs174537, the frequency of haplotype A in the Yakut population was 0.76 and, in comparison with other world data, is quite high. Which in turn is associated with lower conversion of short-chain polyunsaturated fatty acid to long-chain polyunsaturated fatty acid. Accordingly, a shift in nutrition towards more plant foods can negatively impact the health of the Yakuts. At the moment, the exact dosage of polyunsaturated fatty acids (PUFAs) for humans has not yet been established, but judging by the fact that all recommendations are mainly made on the basis of European populations, in connection with the results of the study, the Yakuts have a particularly high need for PUFAs.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"305-310"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"METTL5: A Potential Biomarker for Nonsmall Cell Lung Cancer That Promotes Cancer Cell Proliferation by Interacting with IGF2BP3.","authors":"Sihan Gong, Hu Liu, Hao Gou, Wanli Sun","doi":"10.1089/gtmb.2023.0531","DOIUrl":"10.1089/gtmb.2023.0531","url":null,"abstract":"<p><p><b><i>Objective:</i></b> To examine if METTL5 promotes the proliferation of nonsmall cell lung cancer (NSCLC) cells by interacting with IGF2BP3. <b><i>Methods:</i></b> The expression patterns of METTL5 and IGF2BP3 in NSCLC tissues, their relationship with survival rate, and their correlation were analyzed using bioinformatics and clinical sample analyses. The effects of METTL5 overexpression and <i>IGF2BP3</i> knockdown, as well as those of <i>METTL5</i> knockdown and IGF2BP3 overexpression, on the proliferation of NSCLC cells were analyzed by transfecting appropriate constructs. The interaction between METTL5 and IGF2BP3 was verified using the co-immunoprecipitation (Co-IP) assay. The <i>in vivo</i> effects of METTL5 and IGF2BP3 on NSCLC growth were analyzed using the tumor-bearing nude mouse model. <b><i>Results:</i></b> METTL5 and IGF2BP3 expression levels were positively correlated and were associated with poor clinical prognosis. The METTL5 and IGF2BP3 expression levels were upregulated in the clinical NSCLC samples. IGF2BP3 expression did not affect METTL5 expression but was regulated by METTL5. IGF2BP3 overexpression mitigated the <i>METTL5</i> knockdown-induced impaired cell proliferation. Meanwhile, <i>IGF2BP3</i> knockdown suppressed METTL5-mediated NSCLC cell proliferation. The Co-IP assay results revealed the interaction between METTL5 and IGF2BP3 in NSCLC cells. <i>IGF2BP3</i> knockdown suppressed tumor growth, whereas IGF2BP3 overexpression enhanced tumor volume and quality. <b><i>Conclusion:</i></b> METTL5 induces NSCLC cell proliferation by interacting with IGF2BP3. Thus, METTL5 is a potential biomarker and a therapeutic target for NSCLC.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"311-321"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in <i>MYO6</i> Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.","authors":"Ruchika Raghuvanshi, Khirod Chandra Panda, Chinmay Sundar Ray, Puppala Venkat Ramchander","doi":"10.1089/gtmb.2023.0747","DOIUrl":"10.1089/gtmb.2023.0747","url":null,"abstract":"<p><p><b><i>Background:</i></b> Hereditary nonsyndromic hearing loss (NSHL) is an extremely heterogeneous disorder, both genetically and clinically. Myosin VI (<i>MYO6</i>) pathogenic variations have been reported to cause both prelingual and postlingual forms of NSHL. Postlingual autosomal dominant cases are often overlooked for genetic etiology in clinical setups. In this study, we used next-generation sequencing (NGS)-based targeted deafness gene panel assay to identify the cause of postlingual hearing loss in an Indian family. <b><i>Methods:</i></b> The proband and his father from a multigenerational Indian family affected by postlingual hearing loss were examined via targeted capture of 129 deafness genes, after excluding gap junction protein beta 2 (<i>GJB2</i>) pathogenic variants by Sanger sequencing. NGS data analysis and co-segregation of the candidate variants in the family were carried out. The variant effect was predicted by <i>in silico</i> tools and interpreted following American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines. <b><i>Results:</i></b> A novel heterozygous transversion c.3225T>G, p.(Tyr1075*) in <i>MYO6</i> gene was identified as the disease-causing variant in this family. This stop-gained variant is predicted to form a truncated myosin VI protein, which is devoid of crucial cargo-binding domain. PCR-RFLP screening in 200 NSHL cases and 200 normal-hearing controls showed the absence of this variant indicating its <i>de novo</i> nature in the population. Furthermore, we reviewed <i>MYO6</i> variants reported from various populations to date. <b><i>Conclusions:</i></b> To the best of our knowledge, this is the first family with <i>MYO6</i>-associated hearing loss from an Indian population. The study also highlights the importance of deafness gene panels in molecular diagnosis of <i>GJB2</i>-negative pedigrees, contributing to genetic counseling in the affected families.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"328-336"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of TPMT and NUDT15 Genetic Polymorphisms on Mercaptopurine Pharmacokinetics in Healthy Volunteers.","authors":"Qihui Kong, Qiqi Zhang, Di Chen, Jinfang Lou, Jian Zhu, Mingjing Chen, Ting Li","doi":"10.1089/gtmb.2023.0605","DOIUrl":"10.1089/gtmb.2023.0605","url":null,"abstract":"<p><p><b><i>Aims:</i></b> This study aimed to investigate the impact of genetic polymorphisms of thiopurine methyltransferase (TPMT) and NUDT15 on pharmacokinetics profile of mercaptopurine in healthy adults in China. <b><i>Methods:</i></b> Blood samples were obtained from 45 healthy adult volunteers who were administered azathioprine. Genomic DNA was extracted and sequenced for TPMT and NUDT15. The plasma concentrations of 6-mercaptopurine (6-MP) were determined by ultra-performance liquid chromatography-tandem mass spectrometry. Finally, pharmacokinetic parameters were calculated based on the time-concentration curve. <b><i>Results:</i></b> Among the 45 healthy adult volunteers enrolled in the study, two TPMT allelic variants and three NUDT15 allelic variants were detected. In total, six genotypes were identified, including <i>TPMT*1/*1&NUDT15*1/*1</i>, <i>TPMT*1/*1&NUDT15*1/*2</i>, <i>TPMT*1/*1&NUDT15*1/*9</i>, <i>TPMT*1/*1&NUDT15*2/*5, TPMT*1/*6&NUDT15*1/*2,</i> and <i>TPMT*1/*3&NUDT15*1/*2</i>. The results indicated that Area Under Curve (AUC) of 6-MP in volunteers with TPMT*1/*3&NUDT15*1/*2 and TPMT*1/*6&NUDT15*1/*2 were 1.57-1.62-fold higher than in individuals carrying the wild type (TPMT*1/*1&NUDT15*1/*1). Compared with wild type, the half-life (T_1/2) of <i>TPMT*1/*6&NUDT15*1/*2</i> was extended by 1.98 times, whereas T_1/2 of <i>TPMT*1/*3&NUDT15*1/*2</i> decreased by 67%. The maximum concentration (C_max) of <i>TPMT*1/*3&NUDT15*1/*2</i> increased significantly by 2.15-fold, whereas the corresponding clearance (CL/F) decreased significantly by 58.75%. <b><i>Conclusion:</i></b> The findings of this study corroborate the notion that various genotypes of TPMT and NUDT15 can impact the pharmacokinetics of mercaptopurine, potentially offering foundational insights for personalized mercaptopurine therapy.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"322-327"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.","authors":"Zhonglin Liu, Chunyan Wang, Feng Ni, Tingshu Li, Fenglian Yang, Han Wei, Tengyan Li, Changhui Huang, Junli Wang, Binbin Wang","doi":"10.1089/gtmb.2023.0263","DOIUrl":"10.1089/gtmb.2023.0263","url":null,"abstract":"<p><p><b><i>Aims:</i></b> Asthenozoospermia is the most common factor of male infertility, mainly caused by multiple morphological abnormalities of the sperm flagella (MMAF) and primary ciliary dyskinesia (PCD). Previous studies have shown that genetic factors may contribute to MMAF and PCD. The study aimed to identify novel potentially pathogenic gene mutations in a Chinese infertile man with MMAF and PCD-like phenotypes. <b><i>Methods:</i></b> A Chinese infertile man with MMAF and PCD was enrolled in this study. Whole exome sequencing and Sanger sequencing were performed to identify potential causative genes and mutations. <b><i>Results:</i></b> A novel homozygous missense mutation (c.1450G>A; p.E484K) of <i>CCDC40</i> was finally identified and Sanger sequencing confirmed that the patient carried the homozygous mutation, which was inherited from his parents. We reported the first homozygous missense <i>CCDC40</i> mutation in infertile men with MMAF but had other milder PCD symptoms. <b><i>Conclusion:</i></b> Our findings not only broaden the disease-causing mutation spectrum of <i>CCDC40</i> but also provide new insight into the correlation between <i>CCDC40</i> mutations and MMAF.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"337-341"},"PeriodicalIF":1.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141247663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>HFE</i> and Non-<i>HFE</i> Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.","authors":"Razieh Zarifian Yeganeh, Masoumeh Akbari Kelishomi, Atiyeh Ahmadpour Jenaghard, Banafsheh Salmani, Zohreh Vahidi, Mina Makvand, Maryam Azad, Mahdieh Kooshki, Yassin Bouraqi, Azita Azarkeivan, Hossein Najmabadi, Maryam Neishabury","doi":"10.1089/gtmb.2023.0764","DOIUrl":"10.1089/gtmb.2023.0764","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> The genetics of hereditary hemochromatosis (HH) is understudied in Iran. Here, we report the result of genetic screening of 854 individuals, referred as \"suspected cases of HH,\" to a diagnostic laboratory in Iran over a 12-year period. <b><i>Materials and Methods:</i></b> From 2011 to 2012, 121 cases were screened for HH using Sanger sequencing of <i>HFE</i> exons. After 2012, this method was replaced by a commercial reverse hybridization assay (RHA) targeting 18 variants in the <i>HFE</i>, <i>TFR2</i>, and <i>FPN1(SLC40A1)</i> genes and 733 cases were screened using this method. <b><i>Results:</i></b> From the total studied population, HH was confirmed by genetic diagnosis in only seven cases (0.82%): two homozygotes for <i>HFE</i>:C282Y and five homozygotes for <i>TFR2</i>:AVAQ 594-597 deletion. In 254 cases (29.7%), H63D, C282Y, S65C, and four other <i>HFE</i> variants not targeted by RHA were identified. Although the resulting genotypes in the latter cases did not confirm HH, some of them were known modifying factors of iron overload or could cause HH in combination with a possibly undetected variant. No variant was detected in 593 cases (69.4%). <b><i>Conclusion:</i></b> This study showed that the spectrum of genetic variants of HH in the Iranian population includes <i>HFE</i> and <i>TFR2</i> variants. However, HH was not confirmed in the majority (99.2%) of suspected cases. This could be explained by limitations of our genetic diagnostics and possible inaccuracies in clinical suspicion of HH. A cooperative clinical and genetic investigation is proposed as a solution to this issue.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"289-296"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Polymorphism of Interleukin-6 in Asymptomatic and ICU-Admitted COVID-19 Patients in Sulaymaniyah Province, Kurdistan Region of Iraq.","authors":"Peshnyar M A Rashid, Gaza F Salih","doi":"10.1089/gtmb.2023.0304","DOIUrl":"10.1089/gtmb.2023.0304","url":null,"abstract":"<p><p><b><i>Background:</i></b> The global pandemic of Coronavirus Disease 2019 (COVID-19) has resulted in significant fatality rates. Clinical outcomes for affected individuals range from being asymptomatic to severe illnesses requiring intensive care unit (ICU) admission. Among the various factors contributing to the variation in clinical outcomes, host genetics play a prominent role. Interleukin-6 (IL6), a key player in immune responses, has been identified as having a crucial impact on viral infections, including the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Specifically, certain variations known as single nucleotide polymorphisms (SNPs) in the IL6 promoter region have been found to significantly influence IL6 expression and the severity of viral infections. <b><i>Materials and Methods:</i></b> To explore the relationship between these genetic variations and COVID-19 in asymptomatic and ICU-admitted Kurdish patients, genetic sequencing was performed to determine the genotypes of nine IL6 SNPs. <b><i>Results:</i></b> The study findings revealed that although the proportion of the GG genotype of rs1800795 was slightly higher in asymptomatic COVID-19 cases, the difference was not statistically significant (chi2 = 2.666, <i>p</i> = 0.236). Notably, Kurdish patients displayed a uniform genetic makeup (monomorphic) for the dominant alleles of rs2069830 (C), rs142759801 (C), rs2069857 (C), rs2069829 (G), rs2234683 (G), rs13447446 (T), rs527770772 (C), and rs13447445 (C). Furthermore, patients carrying the haplotype GCGGCTCCC were found to have a 0.481-fold higher likelihood of being asymptomatic with COVID-19 (<i>p</i> = 0.016, OR = 0.481). <b><i>Conclusions:</i></b> This study demonstrates that the rs1800795 SNP is not statistically associated with COVID-19 at the genotype level. However, the presence of the dominant G allele of rs1800795 in the haplotype was found to be statistically associated with asymptomatic COVID-19 patients.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"297-303"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140891805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}