Human Gene最新文献

{"title":"Identification of potential microRNAs involved in pathogenesis of venous thromboembolism (VTE): A meta analysis","authors":"","doi":"10.1016/j.humgen.2024.201346","DOIUrl":"10.1016/j.humgen.2024.201346","url":null,"abstract":"<div><h3>Objective</h3><div>MicroRNAs (MiRNAs) are master regulators of gene expression and have been suggested as potential diagnostic and therapeutic biomarkers in variety of complex diseases. Venous thromboembolism is a major cause of morbidity and mortality worldwide. Several miRNA expression studies have been conducted to identify miRNAs linked to VTE prognosis. These studies reveal that various miRNAs are significantly up-regulated and down-regulated in VTE patients in comparison to healthy controls. Present meta-analysis deliberate findings of such studies to identify most potential miRNA targets associated with VTE.</div></div><div><h3>Methodology</h3><div>Comprehensive literature review on Pubmed was conducted. Present analysis assessed 20 research article out of a total of 383 articles screened, based on inclusion and exclusion criteria. The up-regulated and down-regulated miRNAs obtained from selected research articles were subjected to meta-analysis. The differentially expressed miRNAs so obtained and were used for further bioinformatic analysis, including gene ontology and pathway analysis of their target genes, to study their potential involvement in VTE pathogenesis.</div></div><div><h3>Results</h3><div>Twenty articles selected for meta-analysis included a total of 808 patients. These included 26 up-regulated miRNAs and 11 down-regulated miRNAs. The meta-analysis based on Odds ratio suggested that one up-regulated miRNA (hsa-miR-1233-3p) and two down-regulated miRNAs (hsa-miR-103a-3p and hsa-miR-200c) returned significantly higher Odds compared to other miRNAs. Further bioinformatics analysis of their target genes revealed that these miRNAs target a large number of genes involved in cell adhesion, cell migration, endothelial activation and inflammation genes.</div></div><div><h3>Conclusions</h3><div>Three miRNAs, viz.; hsa-miR-1233-3p, hsa-miR-103a-3p and hsa-miR-200c may play a crucial role in VTE pathogenesis and has potential to serve as reliable diagnostic or therapeutic biomarkers for VTE.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142441005","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":"Validation of gene polymorphisms (rs2682818 and rs2043556) in has-miR-618 and has-miR-605 with the breast cancer susceptibility","authors":"","doi":"10.1016/j.humgen.2024.201343","DOIUrl":"10.1016/j.humgen.2024.201343","url":null,"abstract":"<div><h3>Background</h3><div>Breast cancer (BC) is one of the most frequent types of cancer and the second leading cause of cancer-affiliate death among ladies. BC is a heterogeneous sickness that is impacted by environment and genetic elements. Diagnosis in the early stages impacts treatment and patient survival rate. miRNA can play a vital role in BC's early stages of tumorigenesis. Single nucleotide polymorphism (SNP) can cause changes in miRNA expression and function, which are related to the risk of several cancers.</div></div><div><h3>Aim</h3><div>The goal of this examination is to assess the affiliation among two has-miR-605 (rs2043556A &gt; G) and has-miR-618 (rs2682818 C &gt; A) gene polymorphisms with the risk of BC in the Iranian ladies.</div></div><div><h3>Methods</h3><div>Our case-control examination assessed two hundred whole blood samples of one hundred ladies with BC and one hundred healthy ladies. Hence, to assess the connection between the presence of SNP miRNA genes and the risk of BC, genotyping was done by the usage of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, then the usage of the <em>Chi-square test</em> of SPSS software statistically analyzed the acquired result.</div></div><div><h3>Results</h3><div>Our findings confirmed a statistically substantial distinction within the genotype frequency of the has-miR-618 gene polymorphism among the groups (<em>P</em> = 0.043), whereas no statistically substantial distinction inside the genotype frequency of the has-miR-605 gene polymorphism among the control and case (<em>P</em> = 0.183). In addition, the allelic frequency of two polymorphisms, (rs2043556 A &gt; G) G allele (OR = 2.163, CI 95 % = 1.56–2.988, <em>P</em> = 0.022) and (rs2682818 C &gt; A) A allele (OR = 3.997, CI 95 % = 1.584–10.081, <em>P</em> = 0.002) substantially enhance the risk of BC.</div></div><div><h3>Conclusion</h3><div>The results show that the G allele of rs2043556 and the A allele of rs2682818 increase the risk of BC in the women population of East Azerbaijan province.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142441008","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":"Investigate the association between genetic polymorphisms of ACE and ACE-2 with some biomarkers in Iraqi patients with COVID-19.","authors":"","doi":"10.1016/j.humgen.2024.201344","DOIUrl":"10.1016/j.humgen.2024.201344","url":null,"abstract":"<div><h3>Background</h3><div>The angiotensin-converting enzyme 2 (ACE2) receptor plays a critical role in mediating SARS-CoV-2 infection. Understanding the genetic factors influencing COVID-19 severity is crucial for developing effective treatment strategies. This study aimed to investigate the association between genetic polymorphism of the <em>ACE</em> gene, specifically the insertion/deletion (I/D) polymorphism in the promoter region, and clinical parameters in COVID-19 patients.</div></div><div><h3>Methods</h3><div>A case-control study was conducted with 225 participants from an Iraqi population. Blood samples were collected for hematological analysis and <em>ACE</em> genotyping. The association between <em>ACE</em> genotypes (DD, ID, II), demographic factors, and clinical parameters, including D-dimer, ferritin, lactate dehydrogenase (LDH), C-reactive protein (CRP), white blood cell (WBC) count, lymphocyte count, packed cell volume (PCV), red blood cell (RBC) count, hemoglobin (HB), and platelet count, was assessed.</div></div><div><h3>Results</h3><div>COVID-19 patients exhibited significant differences compared to controls regarding D-dimer, ferritin, LDH, CRP, WBC, lymphocytes, PCV, and RBC (<em>P</em> &lt; 0.05), while no significant differences were found for HB and platelet counts. The DD genotype was predominant (43.11 %), followed by ID (39.56 %) and II (17.33 %). Notably, a significant association was observed between D-dimer levels and ACE genotype (<em>P</em> &lt; 0.0001), with higher levels observed in individuals with the DD genotype. Additionally, a significant correlation was found between ACE genotype and sex (<em>P</em> = 0.0163). No significant association was observed between genotype and ICU admission or lung CT severity.</div></div><div><h3>Conclusion</h3><div>Our findings suggest a potential link between the <em>ACE</em> D/D genotype and elevated D-dimer levels in COVID-19 patients, indicating a potential role for <em>ACE</em> gene polymorphism in influencing disease severity. Further research is warranted to elucidate the underlying mechanisms and explore the potential for personalized treatment approaches based on <em>ACE</em> genotype.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142418246","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":"KRT14 as a potential prognostic marker for metastasis in metaplastic breast carcinoma","authors":"","doi":"10.1016/j.humgen.2024.201341","DOIUrl":"10.1016/j.humgen.2024.201341","url":null,"abstract":"<div><div>Metaplastic breast cancer (MBC) is an aggressive breast cancer subtype with poor prognosis. To elucidate underlying genomic aberrations driving MBC, we conducted integrated transcriptomic analyses of MBC tumors and basal breast cancer cell lines with various transitioning phases (xE = epithelial phase clone, xM = mesenchymal phase clone and xEM = Epithelial-mesenchymal clone). Differential gene expression analysis between MBC vs non-MBC samples as well as between epithelial-mesenchymal (xEM) transitioning cells vs parental cells revealed 12 commonly dysregulated genes intersected from both the datasets meditates pathways governing EMT, migration, proliferation and metastasis. Further investigation onto those genes based on multi-omics approaches that include survival analysis, correlated expression patterns and interactomics indicated KRT14 had a key role in promoting MBC aggression through Epithelial mesenchymal transition leading to metastasis. Moreover, NPR3 was found to be a possible link between KRT14 and EMT in metastasis. To our knowledge, this is the first evident gene expression study to investigate the potential association between the expression of KRT14 and NPR3 and metastasis in MBC, and their potential involvement in the epithelial-mesenchymal transition (EMT) process. These mechanistic and prognostic insights gained can lead to targeted therapeutics against this rare, refractory disease. Overall, this work highlights the effectiveness of integrated multi-omics in revealing gene expression pattern and predictive biomarkers for metaplastic breast cancer subtypes with poor prognosis.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142418244","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":"Therapeutic prospects and challenges in the human genetic disorder hyperbiliverdinemia","authors":"","doi":"10.1016/j.humgen.2024.201342","DOIUrl":"10.1016/j.humgen.2024.201342","url":null,"abstract":"<div><div>The epidermis, sclera, urine, and other bodily fluids have a greenish tint in hyperbiliverdinemia, a rare hepatic condition. Increased biliverdin as a result of ineffective conversion to bilirubin is the known explanation behind the onset of this disorder. The conversion of the bile pigment biliverdin to bilirubin is catalyzed by the oxidoreductase enzyme biliverdin reductase IX-α. Based on a case study, the development of hyperbiliverdinemia is reportedly caused by a novel mutation in the gene (BVRA) that encodes the protein biliverdin reductase A (enzyme) paired with a decompensated liver. Those who have been affected do not seem to experience symptoms outside of obstructive cholestasis; sometimes it is accompanied by liver failure; however, in some reports, liver failure is the only symptom faced by the affected individual. According to case reports, green jaundice occasionally goes away once obstructive cholestasis becomes resolved. This review examines jaundice, including its etiology, symptoms, and concomitant disease processes, with a focus on hyperbiliverdinemia, popularly known as “green jaundice.” Significant information regarding the therapeutics and treatment of jaundice, such as that of phototherapy and exchange transfusion, has also been discussed. Currently, there is no specific treatment for hyperbiliverdinemia; however, treating the symptoms of this disease seems to improve the affected individual's condition.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142418245","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":"Investigation of the association between polymorphisms in DNA repair enzymes and STEMI","authors":"","doi":"10.1016/j.humgen.2024.201340","DOIUrl":"10.1016/j.humgen.2024.201340","url":null,"abstract":"<div><div>STEMI (ST-elevation myocardial infarction), a condition in which DNA damage likely contributes to its pathogenesis, is among the most severe manifestations of coronary artery disease. There are very few publications in this field in the literature. In our study, we examined the association between four polymorphisms in repair enzymes (<em>LIG4 Thr9Ile</em>, <em>XRCC6 promoter C-57G</em>, <em>XPA -4A/G</em>, <em>OGG1 Ser326Cys</em>) involved in three distinct DNA repair mechanisms [NHEJ (non-homologous end joining)], NER (nucleotide excision repair), and BER (base excision repair), and their impact on the risk of STEMI. This study involved 185 patients diagnosed with STEMI and included 155 healthy controls. The genotyping of SNPs was conducted through the PCR-RFLP (Polymerase chain reaction-restriction fragment length polymorphism) method for the following variants: <em>XRCC6</em> (rs2267437), <em>XPA</em> (rs1800975), <em>LIG4 (</em>rs1805388), and <em>OGG1</em> (rs1052133). No significant differences were observed in the genotype distributions of the <em>XRCC6</em> and <em>OGG1</em> variations between the control and patient groups. On the other hand, our findings indicate that individuals carrying the mutant <em>G</em> allele for <em>XPA</em> polymorphism and the mutant <em>T</em> allele for <em>LIG4</em> polymorphism are susceptible to STEMI. Our findings demonstrate the significance of NHEJ and NER DNA repair processes in the pathogenesis of STEMI, as evidenced by the observed relationship between <em>LIG4</em> and <em>XPA</em> polymorphisms.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142318694","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":"Altered expression of insulin-like growth factor 2 mRNA binding protein 2 is associated with periodontal disease- a case-control analysis","authors":"","doi":"10.1016/j.humgen.2024.201338","DOIUrl":"10.1016/j.humgen.2024.201338","url":null,"abstract":"<div><h3>Background/Purpose</h3><p>Periodontitis has a multifactorial pathogenesis involving genetic and epigenetic factors. Insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) is an N6-methyladenosine (m6A) reader that enhances messenger RNA (mRNA) stability in an m6A-dependent manner. It is being considered as a potential target for treating inflammatory diseases. However, its role in periodontitis and its specific target genes affected by m6A modification are not yet well understood. This study aims to investigate the expression of IGF2BP2 and its potential involvement in periodontitis.</p></div><div><h3>Materials and methods</h3><p>Seventy participants were recruited, including 35 patients with periodontitis and 35 healthy controls. Clinical examination and radiography were performed to confirm a diagnosis of periodontitis. Gingival tissue samples were collected from each participant, and IGF2BP2 expression was measured using real-time PCR and western blotting. In addition, <em>in silico</em> tools were used to identify the IGF2BP2 network pathway and its functions.</p></div><div><h3>Results</h3><p>IGF2BP2 expression was significantly higher in the periodontitis group than in the healthy control group (<em>p</em> &lt; 0.0001). Functional enrichment analysis revealed that the IGF2BP2 pathway network plays a crucial role in periodontal pathogenesis. In addition, pro-inflammatory cytokines, including <em>IL-1β</em> and <em>IL-6</em>, were significantly increased in the periodontitis group (<em>p</em> &lt; 0.0001) and were positively correlated with IGF2BP2 expression and m6A methylation sites.</p></div><div><h3>Conclusion</h3><p>Our study demonstrated that increased IGF2BP2 expression is associated with periodontitis, which may regulate proinflammatory cytokine production in an m6A-dependent manner. Further functional studies are required to understand the mechanism of action of IGF2BP2 in periodontitis.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142272947","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":"Role of GSTP1 functional polymorphisms in molecular pathogenesis of colorectal cancer","authors":"","doi":"10.1016/j.humgen.2024.201335","DOIUrl":"10.1016/j.humgen.2024.201335","url":null,"abstract":"<div><p>Glutathione S-transferase P1 (GSTP1) plays a crucial role in the detoxification of harmful substances and cancer-causing agents. Single nucleotide polymorphisms (SNPs) in GSTP1 can affect its ability to catalyze reactions and detoxify, thereby influencing the risk of developing colorectal cancer (CRC). This study aimed to investigate the impact of functional SNPs (fSNPs) in GSTP1 on the risk of CRC, as well as their structural and functional consequences. We analyzed a total of 126 selected GSTP1 SNPs, including fSNPs <em>rs1695 A &gt; G</em> (I105V) and <em>rs1138272 C &gt; T</em> (A114V), in CRC patients (<em>n</em> = 103) and controls (<em>n</em> = 107) of south Indian origin using PCR-sequencing analysis with genomic DNA from blood samples. To assess the structural integrity of <em>GSTP1</em> fSNPs, we conducted in silico analysis using various tools such as Swiss PDB Viewer, pyMOL mutagenesis wizard, ProSA-Web, and Pdbsum. Additionally, we performed functional characterization of <em>GSTP1</em> fSNPs using cell and molecular biology techniques. Our findings revealed a significant association between the I105V fSNP and CRC risk, while the A114V fSNP did not show any significance. However, both fSNPs exhibited stronger linkage disequilibrium in patients compared to controls. In silico analysis indicated a loss of structural integrity and reduced electrostatic potential energy in the double mutant <em>GSTP1</em> (V105/V114) compared to the native (I105/A114) or single mutant (V105/A114 and I105/V114) forms. Furthermore, FHC cells transfected with the <em>GSTP1</em> I105V variant exhibited increased proliferation, invasion, and colony formation, along with decreased GST activity compared to carriers of the wild-type <em>GSTP1</em>. On the other hand, the <em>GSTP1</em> A114V variant did not show a significant effect. Interestingly, FHC cells transfected with the double mutant <em>GSTP1</em> variant (V105/V114) demonstrated synergistic and enhanced effects compared to the <em>GSTP1</em> I105V variant. Consistent with these findings, plasma GST activity was significantly lower in haplogroups carrying both fSNPs compared to haplogroups with single or no fSNPs. To summarize, our findings indicate that while <em>GSTP1</em> I105V alone contributes to the etiology of CRC, A114V does not; however, their combined presence has a more significant impact.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142232621","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":"Impact of family dynamics on cancer progression and patient outcomes: An analysis of emotional and psychological support","authors":"","doi":"10.1016/j.humgen.2024.201339","DOIUrl":"10.1016/j.humgen.2024.201339","url":null,"abstract":"<div><h3>Background</h3><p>Cancer is a group of diseases that results from the growth of cells in an uncontrolled way, and in addition spreading of abnormal cells. At the molecular level, Alterations of oncogenes, tumor-suppresser genes, and microRNA genes cause cancer. These alterations of genes usually occur at the somatic level, if they occur as germline mutations, they can cause heritable or familial cancer.</p></div><div><h3>Materials/methods</h3><p>This is a cross-sectional study which aims to find if there is any relationship between genetic relationship (genes) and cancer development, symptoms severity and prognosis. This study was conducted during the period of January 2022 and August 2022, and consisted of 1998 participants.</p></div><div><h3>Results</h3><p>There was a statistical difference in the distribution of participants' relative symptoms severity and improvement based on the duration they stayed with those people. Staying for days followed by weeks was the most reported in the group of participants with the same symptoms' severity of the diseased relative. On the opposite side, a longer duration of years was the predominant for worse symptoms of the family members despite the improvement of the patient.</p></div><div><h3>Conclusions</h3><p>Family history of cancer has been used by epidemiologists as a proxy for a genetically determined predisposition. However, a shared environment and similar lifestyles can also lead to multiple cancers in the same family. Genes' communication has a role in spreading the cancer among families.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142239926","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":"Serum oxidative stressors levels and association of mtDNA variants with type 2 diabetes mellitus in the Central India population","authors":"","doi":"10.1016/j.humgen.2024.201337","DOIUrl":"10.1016/j.humgen.2024.201337","url":null,"abstract":"<div><h3>Background</h3><p>The mitochondrial genome has a high rate of mutability which plays a major role in pathogenic mutations. These mutations are implicated with mitochondrial dysfunction increasing the vulnerability to Diabetes Mellitus (DM).</p></div><div><h3>Aim</h3><p>The study aimed to evaluate the changes in oxidative markers and analyse the specific mitochondrial DNA variants that contributed to DM in the central Indian population.</p></div><div><h3>Method</h3><p>To assess mitogenomic alteration, Sanger sequencing was used to identify the single nucleotide polymorphisms (SNPs) or variants, while ELISA kits were used to evaluate oxidative stress.</p></div><div><h3>Results</h3><p>The levels of 8-Hydroxy-2-deoxyguanosine (8-OHdG) and Malondialdehyde (MDA) in type 2 diabetes mellitus (T2DM) were significantly higher than in healthy individual (HI). In T2DM (3371.80 ± 1110.7 pg/ml) the levels of 8-OHdG were significantly greater and were found to be nine times higher compared to the control group (<em>P</em> &lt; 0.001). Additionally, MDA level which is indicative of lipid peroxidation, in the diabetic groups (39.34 ± 23.05 ng/ml) contributed to 18 times higher than the control groups (2.16 ± 2 ng/ml). Moreover, 52 variants were found in our population, among which C10400T variants were significantly prevalent and clustered with the A10398G. These variants confirmed a strong association, on analysis for linkage disequilibrium (r²), with a slightly higher r² value in the T2DM group (0.92) compared to controls (0.85), indicating a stronger link with diabetes. According to multivariate regression analysis, variants associated with the mitogenome such as C16192T (CI: 0.004 to 1.30, <em>p</em> = 0.028) were found to play a protective role against T2DM. Furthermore, A3384G and G16129A may contribute to the protective role against the risk of developing diabetes.</p></div><div><h3>Conclusion</h3><p>The study demonstrates that diabetic patients are more vulnerable to certain mtDNA variants, directly linked to increased hyperglycemia. Elevated free radical-mediated oxidative stress likely affects these mtDNA variants.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142229784","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}