Gene Reports最新文献

{"title":"Unveiling a rare endocrine puzzle: A case of CDKN1B mutation-associated MEN4 syndrome","authors":"Sunil Epuri,&nbsp;Dudi Nikitha,&nbsp;Kalyan Ram Uppaluri,&nbsp;Hima Jyothi Challa,&nbsp;Kalyani Palasamudram,&nbsp;Vrushabh Anil Nikhade,&nbsp;K. Sri Manjari","doi":"10.1016/j.genrep.2024.102089","DOIUrl":"10.1016/j.genrep.2024.102089","url":null,"abstract":"<div><div>A woman with a prior diagnosis of thyroid dysfunction was found to have hyperprolactinemia and incidental hypercalcemia. Further investigation led to the diagnosis of a parathyroid adenoma. The unique constellation of hormonal abnormalities and multifocal thyroid nodules defied explanation by known MEN syndromes (no family history). We report the identification of a heterozygous p.Val109Gly mutation in <em>CDKN1B</em>, a gene associated with MEN4 syndrome, through targeted genetic testing. The presented case expands the phenotypic spectrum of MEN4 and highlights the utility of genetic testing in diagnosing syndromic forms of endocrine hyperplasias.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102089"},"PeriodicalIF":1.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703075","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}

{"title":"The complete mitochondrial genome of Dama dama, and their phylogenetic relationships to other Cervidae","authors":"Rebecca Barnard,&nbsp;Judith Smith","doi":"10.1016/j.genrep.2024.102081","DOIUrl":"10.1016/j.genrep.2024.102081","url":null,"abstract":"<div><div>This publication presents the complete mitochondrial genome of <em>Dama dama</em> along with in depth phylogenetic relationship and species divergence analysis in respect to other Cervidae. The mitochondrial genome presented here is 16,332 bp which is comprised of 13 genes, 2 rRNAs and 22 tRNAs. The mitochondrial genome for <em>Dama dama</em> is the smallest, compared to other Cervidae. Transfer RNA genes have a specific secondary structure, resembling a clover leaf, however, tRNA^Ser (Serine 1) in <em>Dama dama</em> has been found to only have 3 arms, it is missing the dihydrouridine arm. The phylogenetic analysis conducted in this study compared the mitochondrial sequences from 25 different Cervidae species. Findings suggest that <em>Dama dama,</em> compared to other Cervidae, is most closely related to <em>Dama mesopotamica</em> and <em>Megaloceros giganteus.</em> With regards to <em>Dama dama</em>, the species divergence time from <em>Dama mesopotamica</em> and <em>Megaloceros giganteus</em> is 5.68 mya. Whereas the divergence time between <em>Dama mesopotamica</em> and <em>Megaloceros giganteus</em> is 5.35 mya. Our findings provide strong support for the distinction between <em>Dama dama</em> and <em>Dama mesopotamica</em> as a sub-species and a close evolutionary relationship between <em>Dama mesopotamica</em> and <em>Megaloceros giganteus</em>. Supporting previous reports of a sister-group relationship with a shared common ancestor. This study has provided a new perspective on the ancestral origin of the <em>Dama</em> genus, which can be further investigated using the <em>Dama dama</em> mitochondrial genome presented in this report. Understanding the evolution of <em>Dama dama</em> may help to better understand the lack of genetic diversity within the species and advance future management strategies to resolve this.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102081"},"PeriodicalIF":1.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651477","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":"Hepcidin: A potent antimicrobial peptide involved in iron homeostasis","authors":"Saiedeh Razi Soofiyani ,&nbsp;Elghar Soltani ,&nbsp;Masoomeh Kashef Nejad-Khelejani ,&nbsp;Reza Ghanbari ,&nbsp;Mohammad Yousef Memar","doi":"10.1016/j.genrep.2024.102082","DOIUrl":"10.1016/j.genrep.2024.102082","url":null,"abstract":"<div><div>Antimicrobial peptides (AMPs) are involved in the innate immunity of human body to battle microbial pathogens. In addition, human AMPs play also an important role in several biological procedures included cell proliferation, soft tissue damage healing and control of immune response. Hepcidin is a cysteine-rich 25-amino acid AMP produced by the liver and plays an important role in the control of iron homeostasis in the human body. Furthermore, its principal role in iron regulation, hepcidin is also an AMP with wide-spectrum antimicrobial effects on Gram-positive bacteria, Gram-negative bacteria, and fungi without triggering side effects in mammalian cells. Significantly, the bactericidal properties of hepcidin are dependent on the integrity of the disulfide bridges and precise folding of hepcidin. The aims of present study were review the biological effects specially role in iron homeostasis and antimicrobial effects of hepcidin.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102082"},"PeriodicalIF":1.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651478","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}

{"title":"Dyskeratosis congenita future: Hematopoietic stem cell transplantation or gene therapy?","authors":"Saba Manoochehrabadi ,&nbsp;Maryam Behfar ,&nbsp;Mohammad Ahmadvand ,&nbsp;Amir Ali Hamidieh","doi":"10.1016/j.genrep.2024.102072","DOIUrl":"10.1016/j.genrep.2024.102072","url":null,"abstract":"<div><div>Dyskeratosis congenital (DC) is a rare, multi-organ cancer-prone inherited bone marrow failure syndrome (IBMFs) caused by defects in telomere biology. IBMFs manifest as ineffective and stressed hematopoiesis owing to germline mutations that cause the failure of hematopoietic stem cell progenitor cells. The clinical presentation is heterogeneous, and serious clinical complications include bone marrow failure, hematological and solid tumors. Bone marrow failure is the main cause of death, although pulmonary fibrosis, hepatic cirrhosis, and cancer significantly contribute to morbidity and mortality. Currently, there is no specific medical treatment for DC. Hematopoietic stem cell transplantation (HSCT) is the only definitive treatment to restore bone marrow function, although it does not correct other abnormalities. HSCT may be a treatment option in subjects affected by DC and bone marrow failure, but it is associated with a high risk of early and late mortality due to infections, organ damage, and secondary malignancies. However, because of the toxicity associated with this treatment and adverse outcomes of HSCT in DC compared to other IBMFs, improved therapies are recommended for DC patients. As a result, gene therapy techniques based on the genetic modification of autologous hematopoietic stem and progenitor cells (HSPCs) have been explored. This review aims to provide a brief description of the currently known clinical and genetic characteristics, disease progression, and diagnosis and discuss HSCT and emerging strategies for using HSPC gene therapy for DC.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102072"},"PeriodicalIF":1.0,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142700812","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}

{"title":"A likely pathogenic homozygous frameshift variant in BLOC1S6 associated with a rare form of congenital Hermansky-Pudlak syndrome 9","authors":"Ahoura Nozari ,&nbsp;Paria Babaahmadi ,&nbsp;Anahita Farahzad Boroujeni ,&nbsp;Roya Choopani ,&nbsp;Taha Sadeghi ,&nbsp;Korosh Heydari ,&nbsp;Alireza Sadeghi","doi":"10.1016/j.genrep.2024.102086","DOIUrl":"10.1016/j.genrep.2024.102086","url":null,"abstract":"<div><div>Hermansky-Pudlak syndrome (HPS) is a collection of autosomal recessive multisystemic disorders with at least 11 different types, categorized on the basis of involved genes. The disease is mostly characterized by tyrosinase-positive oculocutaneous albinism (OCA), platelet storage deficiency, absence of platelet dense bodies, and immune deficiency. Here we described a 2-month-old female infant with generalized hypotonia, recurrent infections, bilateral optic atrophy, nystagmus, cerebral atrophy, and elevated liver enzymes. Unlike her parents, she had chestnut colored hair, fair skin, and brown eyes. Parents had a consanguineous marriage, and their first child had died with similar symptoms at the age of 5 months. Whole exome sequencing (WES) was performed on DNA extracted from the patient's peripheral blood. Following the bioinformatics analysis, a likely pathogenic novel variant in the fifth exon of the <em>BLOC1S6</em> gene (NM_001311255: c.506dupT: p. L169Ffs*33) was introduced by the Sadra Medical Genetic Laboratory. This variant was confirmed in the patient and segregated in both parents by Sanger sequencing.</div><div>This report presented the first congenital case of HPS-9 worldwide that might have led to early neonatal death. Our current patient shows new considerable features related to the <em>BLOC1S6</em> gene variant and HPS-9, which is a valuable source for future research, prediction, clinical management, genetic counseling, and prenatal diagnosing.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102086"},"PeriodicalIF":1.0,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650896","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}

{"title":"Association of thrombophilic genes (MTHFR, MTR and MTRR) polymorphisms and homocysteine level in relation to the increased risk of thrombosis among COVID-19 patients","authors":"Mohamed El-Ghonaimy ,&nbsp;Mohamed El-Deeb ,&nbsp;Shaimaa El-Ashwah ,&nbsp;Manal Fouda ,&nbsp;Menna Al-Adl ,&nbsp;Ahmed EL-Sebaie","doi":"10.1016/j.genrep.2024.102085","DOIUrl":"10.1016/j.genrep.2024.102085","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Patients with COVID-19 have an increased risk of thrombosis and coagulopathy. Homocysteine, an amino acid essential to coagulation, is thought to be involved in such conditions, as its level is mediated by the presence of some single nucleotide polymorphisms (SNPs) in certain genes including &lt;em&gt;MTHFR&lt;/em&gt;, &lt;em&gt;MTR&lt;/em&gt; and &lt;em&gt;MTRR&lt;/em&gt;.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Aim&lt;/h3&gt;&lt;div&gt;The current study aimed to assess the significant role of &lt;em&gt;MTHFR&lt;/em&gt; (C677T and A1298C), &lt;em&gt;MTR&lt;/em&gt; A2756G and &lt;em&gt;MTRR&lt;/em&gt; A66G SNPs as risk factors for thrombosis among Egyptian COVID-19 patients and their effect on homocysteine level.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Subjects and methods&lt;/h3&gt;&lt;div&gt;This case-control study was carried out on 90 Egyptian COVID-19 cases, divided into 45 non-complicated cases and 45 complicated cases with thrombosis, in addition to 80 healthy control individuals. DNA was isolated from blood samples of all the participants. The genotyping was performed using real-time PCR; in addition, serum homocysteine level was estimated.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;The &lt;em&gt;MTHFR&lt;/em&gt; (C677T and A1298C), &lt;em&gt;MTR&lt;/em&gt; A2756G and &lt;em&gt;MTRR&lt;/em&gt; A66G variants revealed a significant higher risk of thrombosis under different genetic models including the homozygous comparison of the co-dominant (20 % vs. 2.3 %, OR = 15.88, &lt;em&gt;p&lt;/em&gt; = 0.007), the dominant (62.2 % vs. 33.3 % OR = 3.29, &lt;em&gt;p&lt;/em&gt; = 0.006) and the allelic models (41.1 % vs. 17.8 %, OR = 3.2, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) for &lt;em&gt;MTHFR&lt;/em&gt; C677T and also the dominant (77.8 % vs. 51.1 %, OR = 3.3, &lt;em&gt;p&lt;/em&gt; = 0.008) and the allelic models (52.2 % vs. 31.1 %, OR = 2.4, &lt;em&gt;p&lt;/em&gt; = 0.004) for &lt;em&gt;MTHFR&lt;/em&gt; A1298C. In addition, the heterozygous comparison of the co-dominant (60 vs. 11.1, OR = 12.7, &lt;em&gt;p&lt;/em&gt; &lt; 0.001), the dominant (62.2 % vs. 11.1 %, OR = 13.1, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) and the allelic models (32.2 % vs. 5.6 %, OR = 8.08, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) for &lt;em&gt;MTR&lt;/em&gt; A2756G and the heterozygous and homozygous comparisons of the co-dominant model [(53.3 % vs. 31.1 %, OR = 3.4, &lt;em&gt;p&lt;/em&gt; = 0.03) and (13.4 % vs. 2.2 %, OR = 12.0, &lt;em&gt;p&lt;/em&gt; = 0.049), respectively], the dominant (66.4 % vs. 33.3 %, OR = 4.0, &lt;em&gt;p&lt;/em&gt; = 0.001) and the allelic models (40 % vs. 17.8 %, OR = 3, &lt;em&gt;p&lt;/em&gt; = 0.001) for &lt;em&gt;MTRR&lt;/em&gt; A66G. Moreover, &lt;em&gt;MTHFR&lt;/em&gt; (C677T and A1298C), &lt;em&gt;MTR&lt;/em&gt; A2756G, and &lt;em&gt;MTRR&lt;/em&gt; A66G variants were also associated with high levels of serum homocysteine (&lt;em&gt;p&lt;/em&gt; = 0.045, 0.001, 0.005 and 0.039, respectively). The homocysteine level was related to the disease severity by its correlation with higher LDH (rs = 0.49, &lt;em&gt;p&lt;/em&gt; &lt; 0.001), CRP (rs = 0.44, &lt;em&gt;p&lt;/em&gt; &lt; 0.001), IL-6 (rs = 0.46, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) and D-dimer (rs = 0.66, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) levels. The multivariate regression analysis showed that homocysteine and the dominant models of &lt;em&gt;MTHFR&lt;/em&gt; (C677T and A1298C), &lt;em&gt;MTR&lt;/em&gt; A2756G and &lt;em&gt;MTRR&lt;/em&gt; A66G were independent","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102085"},"PeriodicalIF":1.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650897","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}

{"title":"MicroRNAs: Tiny biomolecules with soaring impact in regulation of metabolic syndrome","authors":"Saheli Bose ,&nbsp;Nirmalya Dey","doi":"10.1016/j.genrep.2024.102084","DOIUrl":"10.1016/j.genrep.2024.102084","url":null,"abstract":"<div><div>Dysregulated physiological pathways are a hallmark of metabolic syndromes and often act as cancer risk factors. MicroRNAs (miRNAs) have become important regulators of many biological processes, including growth, development and metabolism. MicroRNAs often play a dual role in metabolic syndromes and cancer development through the modulation of pathways that affect cell proliferation, energy balance, and cellular stress responses. Obesity, insulin resistance, type 2 Diabetes, cardiovascular diseases, hypertension, dyslipidemia do always remain ‘list toppers’ since the inception of the concept of ‘metabolic syndrome’. Aberrantly expressed miRNAs exhibit to play a pivotal role in disturbed metabolic pathways, chronic inflammation, and oxidative stress rendering people predisposed to these metabolic disorders. MicroRNAs can diagnose and predict outcomes in various pathophysiological instances. Hence, miRNA profiles can act as biomarkers for early illness diagnosis, disease progression, and treatment response. The complex crosstalk between different metabolic pathways may be managed by using miRNAs as therapeutic targets or tools for precision medicine. The current review focuses on elaborating the complex functions played by miRNAs in bridging the gap between the unexplored areas of metabolic syndromes, keeping cancer off this discussion.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102084"},"PeriodicalIF":1.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650895","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}

{"title":"Whole blood global DNA methylation [5-methylcytosine (5-mC)] levels in psoriatic patients before and after methotrexate treatment","authors":"Veera Krishna Goud ,&nbsp;Alladi Charanraj Goud ,&nbsp;Sivaranjini Ramassamy ,&nbsp;M. Jayanthi ,&nbsp;R. Medha ,&nbsp;Laxmisha Chandrashekar","doi":"10.1016/j.genrep.2024.102083","DOIUrl":"10.1016/j.genrep.2024.102083","url":null,"abstract":"<div><h3>Background</h3><div>Psoriasis is a chronic inflammatory skin disease characterised by hyperproliferation of keratinocytes and abnormal immune response. It manifests in genetically predisposed individuals exposed to environmental triggers like infections, drugs, stress, and trauma. Epigenetic mechanisms are a critical component of the complex etiopathogenesis of psoriasis, as they modulate gene expression and increase disease risk. There are many conflicting reports regarding DNA methylation in patients with psoriasis. This could well reflect the choice of tissue and technique used. Data on whole blood DNA methylation in psoriasis is sparse.</div></div><div><h3>Objective</h3><div>The present study aims to measure the levels of DNA methylation [5-methylcytosine (5-mC)] in psoriatic patients from whole blood pre and post-treatment with methotrexate and its correlation with disease severity.</div></div><div><h3>Methods</h3><div>We recruited thirty cases of psoriasis vulgaris and 30 healthy controls. Thirty psoriatic patients were on methotrexate treatment and followed up for three months. 5-methylcytosine was measured using a global DNA methylation ELISA kit.</div></div><div><h3>Results</h3><div>The 5-methylcytosine levels from whole blood DNA were 8.13±1.89 % in cases and 5.37±2.33 % in controls, which was statistically significant (<em>p</em> = 0.0001). Post-treatment with methotrexate, there was a significant reduction (p = 0.0001) in the 5-methylcytosine levels in cases (4.54±1.74 %). Pre and post-treatment 5-methylcytosine levels were not significantly associated with the Psoriasis Area Severity Index (PASI) score.</div></div><div><h3>Conclusion</h3><div>Patients with psoriasis have whole-blood DNA global hypermethylation. Treatment with methotrexate leads to a significant reduction in DNA hypermethylation.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102083"},"PeriodicalIF":1.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650893","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}

{"title":"New mutation in the β-spectrin gene in hereditary spherocytosis: A case report","authors":"Jin Changyu ,&nbsp;Hu Huijie ,&nbsp;Li Qingqing ,&nbsp;Lai Yanli ,&nbsp;Wang Jiaping ,&nbsp;Mu Qitian ,&nbsp;Ouyang Guifang ,&nbsp;Sheng Lixia","doi":"10.1016/j.genrep.2024.102080","DOIUrl":"10.1016/j.genrep.2024.102080","url":null,"abstract":"<div><div>In patients with recurrent anemia, jaundice, and splenomegaly, a thorough assessment of family history and peripheral blood smears is crucial for diagnosing hereditary spherocytosis (HS). Furthermore, gene sequencing can enhance diagnostic accuracy and facilitate the investigation of disease mechanisms at the molecular level. In this report, we present a case of HS caused by a heterozygous nonsense mutation in the SPTB gene, along with a family history of this specific mutation. A 35-year-old man was evaluated for jaundice and splenomegaly, which he had experienced since childhood. Blood tests revealed anemia, reticulocytosis, elevated indirect bilirubin levels, and an increased percentage of spherical red blood cells in the peripheral blood. His family history indicated that both his father and daughter exhibited similar clinical manifestations. Subsequently, genetic sequencing confirmed that the patient, along with his father and daughter, shared the heterozygous missense mutation c.155G &gt; A (p.Arg52Gln) in the SPTB gene, which is absent in public population and animal sequence databases. Structural prediction analysis of the protein suggests that this mutation may lead to instability of SPTB mRNA, thereby affecting the synthesis of the spectrin protein and the integrity of the red blood cell membrane skeleton. Further research is needed to clarify the exact relationship between this mutation and the occurrence of HS.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102080"},"PeriodicalIF":1.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651479","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}

{"title":"Hepatocyte nuclear factor 1 alpha variants as risk factor for hepatocellular carcinoma development with and without diabetes mellitus","authors":"Isis Samy Bedira ,&nbsp;Ibrahim El Tantawy El Sayed ,&nbsp;Olfat M. Hendy ,&nbsp;Mohamed Abdel-Samiee ,&nbsp;Amany Mohamed Rashad ,&nbsp;Ahmed B. Zaid","doi":"10.1016/j.genrep.2024.102078","DOIUrl":"10.1016/j.genrep.2024.102078","url":null,"abstract":"<div><h3>Background</h3><div>HNF1A gene variants have been reported to be involved in developing mature onset diabetes mellitus (DM). Many studies reported the role of DM as a risk factor for hepatocellular carcinoma (HCC) development. To date, it has not been reported whether HNF1A gene variants are associated with the risk of DM in cirrhotic patients and their subsequent HCC.</div></div><div><h3>Objective</h3><div>To evaluate the HNF1A (the hepatocyte nuclear factor 1 homeobox A) genetic variants as a cofactor with DM for HCC development in hepatitis C virus (HCV)-infected patients.</div></div><div><h3>Subjects and methods</h3><div>This study was conducted on 140 subjects; 30 had HCC without DM, 30 HCC with DM, and 40 patients had DM with no HCV infection or had HCC; in addition, 80 healthy volunteers with matched ages and genders were enrolled in the study as a control group. Liver function tests, hepatitis viral markers, alpha-fetoprotein (AFP), fasting sugar and HBA1c and HNF1A (rs2464196 and rs1169310) using real-time polymerase chain reaction (PCR) were done for all participants.</div></div><div><h3>Results</h3><div>The frequency of HNF1A rs2464196 (AA) genotype in patient groups (DM, HCC, HCC + DM) was significantly higher compared to the control group (<em>P</em> = 0.006, <em>P</em> = 0.018, <em>P</em> &lt; 0.001 respectively). The combined dominant model (AA + GA) of rs 2464196 was significantly higher than the (GG) genotype in patient groups (DM, HCC, HCC + DM) than the control group. In addition, the frequency of the AA genotype is more prevalent in HCC + DM (73 %) compared to the group of DM or HCC patients. In contrast, the HNF1A rs1169310 (TT, TC or CC genotypes) showed no significant difference among the four studied groups and their T or C allele distributions.</div></div><div><h3>Conclusion</h3><div>This finding suggested that the HNF1A rs2464196 (AA) genotype could be associated with DM and may raise the possibility of HCC development among HCV-infected patients who harbour this genotype more than (GG). On the contrary, the HNF1A rs1169310 polymorphism was of no significance as a risk factor in the current study. However, as we limited our study to Egyptian participants, more research on other ethnic groups would be required. Also, large scale studies are recommended on other variants of HNF1A to clarify the role of this gene in HCC development.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102078"},"PeriodicalIF":1.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650894","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}