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Precision medicine activities and opportunities for shaping maternal and neonatal health in Qatar. 精准医疗活动和机遇，促进卡塔尔孕产妇和新生儿健康。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-30 DOI: 10.1080/17410541.2024.2394397
Nader Al-Dewik, Tala Abuarja, Salma Younes, Gheyath Nasrallah, Mohamed Alsharshani, Faisal E Ibrahim, Muthanna Samara, Thomas Farrell, Palli Valapila Abdulrouf, M Walid Qoronfleh, Hilal Al Rifai
{"title":"Precision medicine activities and opportunities for shaping maternal and neonatal health in Qatar.","authors":"Nader Al-Dewik, Tala Abuarja, Salma Younes, Gheyath Nasrallah, Mohamed Alsharshani, Faisal E Ibrahim, Muthanna Samara, Thomas Farrell, Palli Valapila Abdulrouf, M Walid Qoronfleh, Hilal Al Rifai","doi":"10.1080/17410541.2024.2394397","DOIUrl":"10.1080/17410541.2024.2394397","url":null,"abstract":"<p><p>Precision Medicine (PM) is a transformative clinical medicine strategy that aims to revolutionize healthcare by leveraging biological information and biomarkers. In the context of maternal and neonatal health, PM enables personalized care from preconception through the postnatal period. Qatar has emerged as a key player in PM research, with dedicated programs driving advancements and translating cutting-edge research into clinical applications. This article delves into neonatal and maternal health in Qatar, emphasizing PM programs and initiatives that have been implemented. It also features noteworthy clinical cases that demonstrate the effectiveness of precision interventions. Furthermore, the article highlights the role of pharmacogenomics in addressing various maternal health conditions. The review further explores potential advancements in the application of PM in maternal and neonatal healthcare in Qatar.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"313-333"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
miR-559 rs58450758 polymorphism is associated with colorectal cancer risk and prognosis in Chinese Han population. miR-559 rs58450758 多态性与中国汉族人群的结直肠癌风险和预后有关。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-10-22 DOI: 10.1080/17410541.2024.2412512
Hanxing Huang, Lihan Xiao, Min Xiao, Kaiying Chen, Wentian Zheng, Ning Wu
{"title":"miR-559 rs58450758 polymorphism is associated with colorectal cancer risk and prognosis in Chinese Han population.","authors":"Hanxing Huang, Lihan Xiao, Min Xiao, Kaiying Chen, Wentian Zheng, Ning Wu","doi":"10.1080/17410541.2024.2412512","DOIUrl":"10.1080/17410541.2024.2412512","url":null,"abstract":"<p><p><b>Aim:</b> This research examined the correlation between miR-559 rs58450758 and the clinical pathological characteristics and prognosis of CRC.<b>Materials & methods:</b> RT-qPCR was utilized to assess the miR-559 expression levels. Chi-square test was used to investigate the relationship between miR-559 and clinical features. The association between rs58450758 different genotypes and CRC risk, as well as clinical pathological parameters, was explored, utilizing logistic regression analysis and chi-square tests. The Cox regression model and Kaplan-Meier analysis evaluated overall survival in individuals with CRC.<b>Results:</b> The miR-559 was down-regulated in CRC patients' serum. The expressions of miR-559 were significantly associated with tumor size, differentiation, TNM stage and lymph node metastasis. The rs58450758 TT genotype and T allele carriers were more prevalent among CRC patients. The rs58450758 polymorphism was notably linked to tumor size, differentiation, TNM stage and lymph node metastasis in CRC patients. Furthermore, CC genotype carriers exhibited a longer survival period than CT/TT genotypes within the CRC population.<b>Conclusion:</b> The miR-559 rs58450758 polymorphism exhibits promise as a potential biomarker for prognosticating the outcomes of CRC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"303-311"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic utility of the 23-gene expression profile test for an atypical intradermal melanocytic proliferation. 23基因表达谱测试对非典型皮内黑色素细胞增殖的诊断效用。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-07 DOI: 10.2217/pme-2023-0110
Etan Marks, Anais A Badia, Matthew S Goldberg
{"title":"Diagnostic utility of the 23-gene expression profile test for an atypical intradermal melanocytic proliferation.","authors":"Etan Marks, Anais A Badia, Matthew S Goldberg","doi":"10.2217/pme-2023-0110","DOIUrl":"10.2217/pme-2023-0110","url":null,"abstract":"<p><p>Ancillary tests such as immunohistochemistry (IHC) and gene expression profile (GEP) testing may be needed to arrive at a definitive diagnosis for some atypical melanocytic neoplasms. A 34-year-old male with a family history of melanoma presented with a large, heterogeneous melanocytic lesion on the cheek. Histopathological review of two biopsies revealed an atypical intradermal melanocytic proliferation with spitzoid features without ulceration or regression. Scattered mitotic figures were identified. In addition to performing SOX10 IHC, PRAME and HMB45 staining highlighted weak, patchy positivity that was stronger in superficial, pleomorphic melanocytes (Ki-67, 5-7% mitotic rate). Based on these concerning but ambiguous IHC results and lingering concern for melanoma reiterated by other consulting dermatopathologists, the 23-GEP was requested for both specimens, which both returned a malignant result. The inconclusive histopathological features of malignancy were resolved by 23-GEP testing, facilitating a final diagnosis of malignant melanoma (pT3a, 2.5 mm Breslow depth, Clark's level IV).</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Introduction of a single-nucleotide variant, rs16851030, into the ADORA1 gene increased cellular susceptibility to hypoxia. 在 ADORA1 基因中引入单核苷酸变体 rs16851030 会增加细胞对缺氧的敏感性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-10-23 DOI: 10.1080/17410541.2024.2412514
Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua
{"title":"Introduction of a single-nucleotide variant, rs16851030, into the <i>ADORA1</i> gene increased cellular susceptibility to hypoxia.","authors":"Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua","doi":"10.1080/17410541.2024.2412514","DOIUrl":"10.1080/17410541.2024.2412514","url":null,"abstract":"<p><p><b>Aim:</b> Rs16851030, a single-nucleotide variant located in the 3'-untranslated region of the <i>ADORA1</i> gene, has been proposed as a potential marker of caffeine sensitivity in apnea of prematurity. Besides, it is associated with aspirin-induced asthma and the development of acute chest syndrome. However, its functional significance is still unconfirmed. This study aimed to elucidate the functional impact of rs16851030 by using CRISPR/Cas9 approach to induce the DNA variant and attendant physiological changes.<b>Methods:</b> Rs16851030 was introduced into HEK293 cells via homology-directed repair (HDR). Edited cells were fluorescence-enriched, sorted, isolated, and expanded into single-cell-derived clones. The edit was confirmed by Sanger sequencing. RNA sequencing was used to analyze affected pathways.<b>Results:</b> Rs16851030-mutant cells showed increased susceptibility to hypoxia, a condition related to apnea of prematurity. After 24 h of hypoxia, the viability of mutant clones 1 and 2 was low compared with wild-type cells (75.45% and 74.47% vs. 96.34%). RNA sequencing revealed transcriptomic changes linked to this increased vulnerability.<b>Conclusion:</b> Rs16851030 impairs cellular resistance to hypoxia, suggesting its role in conditions like apnea of prematurity. Further research should investigate the molecular mechanisms and transcriptomic alterations caused by rs16851030 under hypoxic conditions.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"353-366"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of novel variants of XPA and POLH/XPV genes in xeroderma pigmentosum patients in Vietnam. 越南着色性干皮病患者XPA和POLH/XPV基因新变异的鉴定。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-12-10 DOI: 10.1080/17410541.2024.2393073
Thi Lan Anh Luong, Thu Lan Hoang, Duc Phan Tran, Thi Mai Le, Hien Tran, Phuong Thuy Ho, Huyen Nga Hoang, Hoa Giang, Duy Linh Vu, Nghi Huu Dinh, Manh Tan Nguyen, Huu Sau Nguyen
{"title":"Identification of novel variants of <i>XPA</i> and <i>POLH/XPV</i> genes in xeroderma pigmentosum patients in Vietnam.","authors":"Thi Lan Anh Luong, Thu Lan Hoang, Duc Phan Tran, Thi Mai Le, Hien Tran, Phuong Thuy Ho, Huyen Nga Hoang, Hoa Giang, Duy Linh Vu, Nghi Huu Dinh, Manh Tan Nguyen, Huu Sau Nguyen","doi":"10.1080/17410541.2024.2393073","DOIUrl":"10.1080/17410541.2024.2393073","url":null,"abstract":"<p><p>Xeroderma pigmentosum (XP) disorder is recognized as a genetic condition inherited by autosomal recessive fashion. XP results from a defective DNA repair mechanism that significantly increases skin cancer risk. Fifteen Vietnamese patients were investigated with typical clinical manifestations of XP. Eight XP genes (<i>XPA</i> to <i>XPG</i> and <i>POLH</i>/<i>XPV</i>) were sequenced using peripheral blood samples. Overall, three novel variants on the <i>XPA</i> and <i>XPV</i> genes were detected in members of two families. One novel missense variant c.388A>G (p.R130G) of <i>XPA</i> was found in three patients with XP group A, two novel variants: c.680G>A (p.C227Y) and c.1652dupC (p.Gln553Profs*8) of <i>XPV</i> in one patient with XP group F/G. Our study contributes to the recognition of new mutations in XP patients which have not been reported in Human Gene Mutation Database (HGMD).</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"341-351"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development of a computer-based tool to obtain a family health history in Vietnam. 开发基于计算机的工具，用于在越南获取家庭健康史。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-04 DOI: 10.1080/17410541.2024.2391728
Linh Ba Tieu, Vinh Nhu Nguyen, Phu Gia Tran, Hieu Minh Truong, Tuyet-Lan Thi Nguyen, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Nguyen Huu Nguyen, Y-Thanh Lu, Huong-Thao Xuan Tran, Quynh-Tho Thi Nguyen, Quynh Nhat Nguyen, Toan Thanh Le, Viet Hoang Truong, Minh Binh Bui, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Hoai-Nghia Nguyen, Dieu Chan Quan, Hung-Sang Tang
{"title":"Development of a computer-based tool to obtain a family health history in Vietnam.","authors":"Linh Ba Tieu, Vinh Nhu Nguyen, Phu Gia Tran, Hieu Minh Truong, Tuyet-Lan Thi Nguyen, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Nguyen Huu Nguyen, Y-Thanh Lu, Huong-Thao Xuan Tran, Quynh-Tho Thi Nguyen, Quynh Nhat Nguyen, Toan Thanh Le, Viet Hoang Truong, Minh Binh Bui, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Hoai-Nghia Nguyen, Dieu Chan Quan, Hung-Sang Tang","doi":"10.1080/17410541.2024.2391728","DOIUrl":"10.1080/17410541.2024.2391728","url":null,"abstract":"<p><p><b>Background:</b> Family health history (FHH) is central to human genomic profiling construction; however, there is no protocol for documenting FHH in a pedigree format in Vietnam.<b>Aim:</b> A \"Gia Su Suc Khoe\" (GSSK) tool was developed to create a user-friendly interface for collecting FHH and offering diseases' risk assessment.<b>Results:</b> A tool was described (https://giasusuckhoe.vn/) with good feedback from genetic counselors and family-medicine doctors. Among 20 surveys, 100% of respondents noted that the report accurately reflected their FHH and were satisfied with the tool's display. About 74% of familial conditions were covered. Overall, all constructive feedback has been adapted into the updated version.<b>Conclusion:</b> Gia Su Suc Khoe has the potential to significantly improve healthcare delivery and outcomes in Vietnam.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"271-276"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy and tolerability of capmatinib in a very elderly patient with metastatic NSCLC harboring a MET exon 14 mutation. 卡马替尼对一名携带 MET 第 14 号外显子突变的高龄转移性 NSCLC 患者的疗效和耐受性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-07-03 DOI: 10.1080/17410541.2024.2369493
Nicole Conci, Virginia Marchiori, Alessandro Di Federico, Andrea De Giglio, Francesca Sperandi, Barbara Melotti, Francesco Gelsomino
{"title":"Efficacy and tolerability of capmatinib in a very elderly patient with metastatic NSCLC harboring a <i>MET</i> exon 14 mutation.","authors":"Nicole Conci, Virginia Marchiori, Alessandro Di Federico, Andrea De Giglio, Francesca Sperandi, Barbara Melotti, Francesco Gelsomino","doi":"10.1080/17410541.2024.2369493","DOIUrl":"10.1080/17410541.2024.2369493","url":null,"abstract":"<p><p>We report the case of an 87-year-old female patient who was diagnosed with metastatic non-small-cell lung cancer harboring <i>MET</i> exon 14 skipping mutation (<i>MET</i> ex14) and PD-L1 expression of 60%. A first-line treatment with atezolizumab was started with primary resistance. Then, a second-line treatment with capmatinib, a selective type Ib MET tyrosine kinase inhibitor, was started, achieving a partial response. The patient is still alive and on treatment with capmatinib 300 mg twice daily after 20 months, with a good tolerability and no evidence of disease progression.In summary, our patient experienced a long-lasting response (>18 months) with capmatinib as second-line treatment. Further analyses evaluating the efficacy and tolerability of MET tyrosine kinase inhibitors are warranted, especially in the elderly, a non-small-cell lung cancer population whose tumors could more frequently harbor <i>MET</i> ex14 mutation.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"205-209"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gene expression profiling of peripheral blood in patients with steroid-induced osteonecrosis of the femoral head. 类固醇诱发的股骨头坏死患者外周血基因表达谱分析。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-03-19 DOI: 10.2217/pme-2023-0102
Cong-Min Zhang, Yuan Wei, Xue-Ke Tian, Kai-Di Ren, Jing Yang
{"title":"Gene expression profiling of peripheral blood in patients with steroid-induced osteonecrosis of the femoral head.","authors":"Cong-Min Zhang, Yuan Wei, Xue-Ke Tian, Kai-Di Ren, Jing Yang","doi":"10.2217/pme-2023-0102","DOIUrl":"10.2217/pme-2023-0102","url":null,"abstract":"<p><p><b>Aim:</b> Steroid-induced osteonecrosis of the femoral head (SONFH) is a severe complication following glucocorticoid therapy. This study aimed to identify the differential mRNA expression and investigate the molecular mechanisms of SONFH. <b>Materials & methods:</b> RNA sequencing was performed in eight SONFH patients, five non-SONFH patients and five healthy individuals. <b>Results:</b> A total of 1555, 3997 and 5276 differentially expressed mRNAs existed between the following combinations: SONFH versus non-SONFH, SONFH versus healthy subjects and non-SONFH versus healthy subjects. Increased <i>ISM1</i> expression might contribute to a high risk of SONFH through antiangiogenesis. Decreased <i>FOLR3</i> expression might affect the metabolism of homocysteine, leading to avascular necrosis of the femoral head. <i>KCNJ2</i>, which plays a pivotal role in regulating bone development, was also deregulated. <b>Conclusion:</b> <i>ISM1</i>, <i>FOLR3</i> and <i>KCNJ2</i> might be related to the occurrence of SONFH.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"89-102"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140159808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
European survey: citizens' attitudes on personalized medicine, genetic testing and health data sharing - design and delivery. 欧洲调查：公民对个性化医疗、基因检测和健康数据共享的态度--设计与交付。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-07-04 DOI: 10.1080/17410541.2024.2342770
Francesco Andrea Causio, Flavia Beccia, Loes Lindiwe Kreeftenberg, Giovanna Elisa Calabrò, Roberta Pastorino, Stefania Boccia, Carla van El
{"title":"European survey: citizens' attitudes on personalized medicine, genetic testing and health data sharing - design and delivery.","authors":"Francesco Andrea Causio, Flavia Beccia, Loes Lindiwe Kreeftenberg, Giovanna Elisa Calabrò, Roberta Pastorino, Stefania Boccia, Carla van El","doi":"10.1080/17410541.2024.2342770","DOIUrl":"10.1080/17410541.2024.2342770","url":null,"abstract":"<p><p>In the transformative landscape of healthcare, personalized medicine emerges as a pivotal shift, harnessing genetic, environmental and lifestyle data to tailor medical treatments for enhanced outcomes and cost efficiency. Central to its success is public engagement and consent to share health data amidst rising data privacy concerns. To investigate European public opinion on this paradigm, we executed a comprehensive cross-sectional survey to capture the general public's views on personalized medicine and data-sharing modalities, including digital tools and electronic records. The survey was distributed in eight major European Union countries and the results aim at guiding future policymaking and trust-building measures for secure health data exchange. This article delineates our methodological approach, whereby survey findings will be expounded in subsequent publications.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"163-166"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141500044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between IL-6, miRNA-146a, MALAT1 genetic polymorphisms and risk of rheumatoid arthritis. IL-6、miRNA-146a、MALAT1 基因多态性与类风湿性关节炎风险之间的关系。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-12 DOI: 10.1080/17410541.2024.2393072
Yasser Bm Ali, Noura Ma Hasan, Eman A El-Maadawy, Iman H Bassyouni, Mohamed El-Shahat, Roba M Talaat
{"title":"Association between IL-6, miRNA-146a, MALAT1 genetic polymorphisms and risk of rheumatoid arthritis.","authors":"Yasser Bm Ali, Noura Ma Hasan, Eman A El-Maadawy, Iman H Bassyouni, Mohamed El-Shahat, Roba M Talaat","doi":"10.1080/17410541.2024.2393072","DOIUrl":"10.1080/17410541.2024.2393072","url":null,"abstract":"<p><p><b>Aim:</b> This study aimed to investigate the associations between single nucleotide polymorphisms (SNPs) of <i>IL-6</i> (-174G/C), <i>microRNA146a</i> (rs2910164C/G) and <i>MALAT1</i> (rs619586A/G) and susceptibility to rheumatoid arthritis (RA) in Egyptians.<b>Methods:</b> SNPs were genotyped in 101 RA patients and 104 controls. Expression levels were evaluated either by Enzyme-linked immunosorbent assay (ELISA) for IL-6 or quantitative real-time PCR (qRT-PCR) for miR-146a and MALAT1.<b>Results:</b> <i>IL-6-174</i> GC (OR = 3.422) genotype, IL-6-174 C allele (OR = 2.565), miR-146a (rs2910164) CG (OR = 2.190) and MALAT1 (rs619586) AA (OR = 4.125) genotypes and A allele (OR = 6.122) could be considered as risk factors for RA. An increase in the expression of IL-6, miR-146a and MALAT1 was detected in RA patients, which was independent of any SNP.<b>Conclusion:</b> SNPs of IL-6, miR-146a and MALAT1were linked to RA predisposition in Egyptians.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"277-294"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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