Balkan Journal of Medical Genetics最新文献

{"title":"Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia.","authors":"P Dzekova-Vidimliski, N Eftimovska-Otovikj, I G Nikolov, Gj Selim, I Rambabova-Bushljetik, V Pushevski, V Karanfilovski, N Matevska-Geshovska, A Dimovski","doi":"10.2478/bjmg-2023-0022","DOIUrl":"10.2478/bjmg-2023-0022","url":null,"abstract":"<p><strong>Introduction: </strong>The polymorphism of the angiotensin-converting enzyme (ACE) gene and interleukin-1 beta (IL-1b) gene could be associated with resistance in the treatment of anemia in dialysis patients with recombinant human erythropoietin (rHuEPO). The aim of the study was to evaluate the association between the polymorphism of the ACE and IL-1b genes and the response to rHuEPO therapy in dialysis patients with anemia.</p><p><strong>Material and methods: </strong>The study investigated 69 patients on dialysis with anemia treated with recombinant human erythropoietin for 12 months. Genotyping of ACE and IL-1b polymorphism was done in all study patients at the initiation of the study. The patient's demographic characteristics, dialysis vintage, and laboratory parameters were also evaluated as factors associated with rHuEPO resistance. The erythropoietin resistance index (ERI) was calculated as the weekly rHuEPO dose per kg of body weight, divided by the hemoglobin (Hb) concentration in g/dl.</p><p><strong>Results: </strong>The Hb ≥ 110 g/l was registered in 37 (53.6%) patients. Patients with Hb ≥ 110 g/l were characterized by significantly higher serum levels of albumin, cholesterol, and iron than those with Hb < 110 g/l. The serum level of the CRP, the weekly dose of rHuEPO, and ERI were significantly higher in patients with Hb < 110 g/l compared to patients with Hb ≥ 110 g/l. The ERI value of ≥ 10 IUkg/weekly/g/dl was present in 27 (39.1%) patients. The serum levels of ferritin and CRP, and weekly dose of rHuEPO were significantly higher in patients with ERI value ≥ 10 IU kg/weekly/g/dl compared with the patients with ERI value < 10 IUkg/weekly/g/dl. There was no significant association between the ERI and polymorphism of the ACE and IL-1b genes in study patients.</p><p><strong>Conclusion: </strong>The polymorphism of the ACE and IL-1b genes was not significantly associated with the response to erythropoietin therapy in dialysis patients with anemia. Iron deficiency, malnutrition, and inflammation were factors associated with anemia and resistance to erythropoietin therapy in dialysis patients.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 2","pages":"27-34"},"PeriodicalIF":0.6,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.","authors":"A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija","doi":"10.2478/bjmg-2023-0016","DOIUrl":"10.2478/bjmg-2023-0016","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in <i>TARS2</i> are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of COXPD21 patients, mostly with distal renal tubular acidosis.</p><p><strong>Case report: </strong>We report on the first COXPD21 patient with generalized tubular dysfunction and early childhood progression to chronic kidney disease (CKD). Thorough diagnostic evaluation was initiated at six months of age due to failure to thrive, muscular hypotonia, motor delay and recurrent bronchiolitis. The boy was lost to follow-up until the age of two years, when he was readmitted with elevated creatinine level, reduced estimated glomerular filtrate rate, normochromic anaemia, metabolic acidosis and hyperkalaemia. Urine abnormalities pointed to generalized tubular dysfunction. Two novel heterozygous missense variants in <i>TARS2</i> gene were detected by the means of whole exome sequencing: c.1298T>G (p.Phe438Cys) of maternal origin and c.1931A>T (p.Asp644Val) of paternal origin. Currently, at 4.5 years of age, the boy has failure to thrive, severe motor and verbal delay and end stage of CKD. We referred the patient to paediatric centre that provides renal replacement therapy.</p><p><strong>Conclusion: </strong>The overall clinical course in the patient we report on corresponds well to the previously reported cases of <i>TARS2</i> related COXPD21, especially in regard to neurological and developmental aspects of the disease. However, we point out the generalized tubulopathy and early occurrence of CKD in our patient as atypical renal involvement in COXPD21. Additionally, this is the first report of hypothyroidism and hypoparathyroidism in a COXPD21 patient.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 2","pages":"59-64"},"PeriodicalIF":0.6,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932596/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Value of <i>CYP1A2</i> (rs2069514 and rs762551) Polymorphisms in COVID-19 Patients.","authors":"I Bozkurt, T Gözler, I Yüksel, K Ulucan, K N Tarhan","doi":"10.2478/bjmg-2023-0005","DOIUrl":"10.2478/bjmg-2023-0005","url":null,"abstract":"<p><p>The aim of the study was to examine the genotype-allele determination of <i>CYP1A2</i> rs2069514 and rs762551 polymorphisms in patients with mild and severe COVID-19 and to determine their effectiveness as prognostic criteria in COVID-19. The study consists of 60 patients who were hospitalized in intensive care or outpatient treatment due to COVID-19 in Istanbul NP Brain Hospital between 2020-2021. Genotyping was conducted by Real-Time PCR. Age (p<0.001); chronic disease (p=0.002); cardiovascular disease (p=0.004); respiratory distress (p<0.001); neurological disease (p=0.004); fatigue (p=0.048); loss of taste and smell (p=0.003); nausea/vomiting (p=0.026); intubated (p<0.001); ground glass image (p<0.001) and <i>CYP1A2</i> genotypes (p<0.001) showed a statistically significant difference between patients with and without intensive care admission. According to multivariate logistic regression analysis, <i>CYP1A2</i> *1A/*1C + *1C/*1C genotypes (OR:5.23 95% CI: 1.22-22.36; p=0.025), chronic disease (OR:4.68 95% CI:1.14-19.15; p=0.032) or patients at 65 years or older (OR:5.17, 95%CI:1.26-21.14; p=0.022) increased the risk of admission to the intensive care unit. According to our results, we strongly suggest considering the <i>CYP1A2</i> rs2069514 and rs762551 polymorphisms as important predictors of Intensive Care Unit admission in patients with COVID-19, and we also suggest that genotype results will guide clinicians for the benefit and the efficiency of the treatment.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"35-42"},"PeriodicalIF":0.6,"publicationDate":"2023-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0b/ea/bjmg-26-1-bjmg-2023-0005.PMC10413886.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10371933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of rs35006907 Polymorphism with Risk of Dilated Cardiomyopathy in Han Chinese Population.","authors":"C Yang, F Chen, Sh Li, X Zeng, Sh Wang, J Lan","doi":"10.2478/bjmg-2023-0004","DOIUrl":"10.2478/bjmg-2023-0004","url":null,"abstract":"<p><strong>Background: </strong>Several investigations have demonstrated the association of <i>MTSS1</i> with left ventricular (LV) structure and function. A recently published study has even revealed that rs35006907 was associated with both <i>MTSS1</i> expression and the risk of dilated cardiomyopathy (DCM).</p><p><strong>Objective: </strong>Our study intended to investigate the relationship between rs35006907 and the risk of DCM in the Han Chinese population.</p><p><strong>Methods: </strong>A total of 529 DCM and 600 healthy controls were recruited. We conducted genotyping for rs35006907 in all participants. Gene association studies were performed to assess the association between rs35006907 and the risk of DCM. A series of functional assays including western blot, realtime PCR and firefly luciferase reporter gene assays were conducted to illuminate the underlying mechanism.</p><p><strong>Results: </strong>We found that rs35006907-A allele was significantly associated with reduced risk of DCM in additive (p= 0.004; OR=0.78; 95% CI=0.66-0.93) and recessive models (p= 0.0005; OR=0.56; 95%CI=0.41-0.78) when compared with the rs35006907-C allele. There were significant differences in the left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF) between rs35006907-CC/AC and AA genotypes. Furthermore, the variant rs35006907-A allele presented lower reporter gene activity, reduced mRNA and protein expression levels when compared with the C allele.</p><p><strong>Conclusions: </strong>Our findings demonstrated that rs35006907-C allele increased the risk of DCM in Han Chinese population. Besides, rs35006907-C displayed higher reporter gene activity and increased <i>MTSS1</i> expression in human samples.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"27-34"},"PeriodicalIF":0.6,"publicationDate":"2023-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11071056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48690487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.","authors":"M Parezanović,&nbsp;N Ilić,&nbsp;S Ostojić,&nbsp;G Stevanović,&nbsp;J Ječmenica,&nbsp;A Maver,&nbsp;A Sarajlija","doi":"10.2478/bjmg-2023-0008","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0008","url":null,"abstract":"<p><p>Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G>A) in <i>ALDH5A1</i> presenting with an unexpected association of typical SSADH deficiency manifestations with bilateral sensorineural hearing loss (SNHL). Brainstem evoked response audiometry (BERA) testing showed mid-frequency sensorineural hearing damage that suggested a hereditary component to SNHL. Whole exome sequencing (WES) failed to discern other genetic causes of deafness. Several variants of uncertain significance (VUS) detected in genes known for their role in hearing physiology could not be verified as the cause for the SNHL. It is known that central auditory processing depends on a delicate balance between excitatory and inhibitory neurotransmission, and GABA is known to play a significant role in this process. Additionally, excessive concentrations of accumulated GABA and GBH are known to cause a down-regulation of GABA receptors, which could have an adverse influence on hearing function. However, these mechanisms are very speculative in context of SNHL in a patient with inherited disorder of GABA metabolism. Injury of the globi pallidi, one of hallmarks of SSADH deficiency, could also be a contributory factor to SNHL, as was suspected in some other inborn errors in metabolism. We hope that this case will contribute to the understanding of phenotypic complexity of SSADH deficiency.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"63-68"},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/bc/bjmg-26-1-bjmg-2023-0008.PMC10413887.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10002042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differentially Expressed Circulating Long-Noncoding RNAS in Premature Infants with Respiratory Distress Syndrome.","authors":"Z D Bao,&nbsp;J Wan,&nbsp;W Zhu,&nbsp;J X Shen,&nbsp;Y Yang,&nbsp;X Y Zhou","doi":"10.2478/bjmg-2023-0011","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0011","url":null,"abstract":"<p><strong>Purpose: </strong>Recent studies have addressed the association between lung development and long-noncoding RNAs (lncRNAs). But few studies have investigated the role of lncRNAs in neonatal respiratory distress syndrome (RDS). Thus, this study aimed to compare the expression profile of circulating lncRNAs between RDS infants and controls.</p><p><strong>Methods: </strong>10 RDS infants and 5 controls were enrolled. RDS patients were further divided into mild and severe RDS subgroups. Blood samples were collected for the lncRNA expression profile. Subsequently, differentially expressed lncRNAs were screened out. Bioinformatics analysis was applied to establish a co-expression network of differential lncRNAs and mRNAs, and predict the underlying biological functions.</p><p><strong>Results: </strong>A total of 135 differentially expressed lncRNAs were identified, including 108 upregulated and 27 downregulated lncRNAs (fold-change>2 and <i>P</i><0.05) among the three groups (non-RDS, mild RDS and severe RDS groups). Of these lncRNAs, four were selected as showing higher fold changes and validated by qRT-PCR. ENST00000470527.1, ENST00000504497.1, ENST00000417781.5, and ENST00000440408.5 were increased not only in the plasma of total RDS patients but also in the severe RDS subgroup. Gene Ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) analyses showed that differentially expressed lncRNAs may play important roles in RDS through regulating PI3KAkt, RAS, MAPK, and TGF-β signaling pathways.</p><p><strong>Conclusion: </strong>The present results found that ENST00000470527.1, ENST00000504497.1, ENST00000417781.5, and ENST00000440408.5 may be invol ved in RDS. This could provide new insight into research of the potential pathophysiological mechanisms of preterm RDS.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"11-20"},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/50/26/bjmg-26-1-bjmg-2023-0011.PMC10413991.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10371936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant.","authors":"P Noveski,&nbsp;T Plaseski,&nbsp;M Dimitrovska,&nbsp;D Plaseska-Karanfilska","doi":"10.2478/bjmg-2023-0012","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0012","url":null,"abstract":"<p><p>Sexual development (SD) is a complex process with strict spatiotemporal regulation of gene expression. Despite advancements in molecular diagnostics, disorders of sexual development (DSD) have a diagnostic rate of ~50%. Androgen insensitivity syndrome (AIS) represents the most common form of 46,XY DSD, with a spectrum of defects in androgen action. Considering the importance of very strict regulation of the SD, it is reasonable to assume that the genetic cause for proportion of the DSD lies in the non-coding part of the genome that regulates proper gene functioning. Here we present a patient with partial AIS (PAIS) due to a mosaic <i>de novo</i> c.-547C>T pathogenic variant in the 5'UTR of androgen receptor (<i>AR</i>) gene. The same mutation was previously described as inherited, in two unrelated patients with complete AIS (CAIS). Thus, our case further confirms the previous findings that variable gene expressivity could be attributed to mosaicism. Mutations in 5'UTR could create new upstream open reading frames (uORFs) or could disrupt the existing one. A recent systematic genome-wide study identified <i>AR</i> as a member of a subset of genes where modifications of uORFs represents an important disease mechanism. Only a small number of studies are reporting non-coding mutations in the <i>AR</i> gene and our case emphasizes the importance of molecular testing of the entire <i>AR</i> locus in AIS patients. The introduction of new methods for comprehensive molecular testing in routine genetic diagnosis, accompanied with new tools for in sillico analysis could improve the genetic diagnosis of AIS, and DSD in general.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"51-56"},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b8/ec/bjmg-26-1-bjmg-2023-0012.PMC10413879.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10002040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.","authors":"M E Yildirim,&nbsp;S Karakus,&nbsp;H K Kurtulgan,&nbsp;L Ozer,&nbsp;S B Celik","doi":"10.2478/bjmg-2023-0002","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0002","url":null,"abstract":"<p><strong>Objectives: </strong>Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials.</p><p><strong>Methods: </strong>This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities.</p><p><strong>Results: </strong>By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases.</p><p><strong>Conclusion: </strong>The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"5-10"},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/44/15/bjmg-26-1-bjmg-2023-0002.PMC10413878.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10002045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?","authors":"N Aladağ,&nbsp;H Ali Barman,&nbsp;A Şipal,&nbsp;T Akbulut,&nbsp;M Özdemir,&nbsp;S Ceylaner","doi":"10.2478/bjmg-2023-0010","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0010","url":null,"abstract":"<p><p>Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene analysis for FD in patients suffering from unexplained LVH. 120 patients over the age of 30 who were diagnosed by echocardiography with idiopathic LVH were included in the study. Patients with severe hypertension, intermediate valve disease such as moderate aortic stenosis, known FD, and a family history of autosomal dominant hypertrophic cardiomyopathy were excluded from the study. <i>GLA</i> gene mutations were studied by Sanger sequence analysis in all patients. Of the 120 total patients included in this study, 69 were female (58%) and 51 were male (42%). The mean age was 60.3 ± 15.7. <i>GLA</i> gene mutations were detected in three male patients. The detected mutations are as follows: <i>NM_000169.2:IVS6-10G>A (c.1000-10G>A), NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr)</i> and <i>NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met)</i>. Early diagnosis is of vital importance in FD, which can be treated with enzyme replacement. Genetic screening in patients diagnosed with idiopathic LVH by echocardiography is important in the early diagnosis and treatment of FD. Patients over 30 years of age with idiopathic LVH should be screened for FD. Various new polymorphisms can be detected in genetic screening. Identifying new polymorphisms is important for knowing the true mutations in FD.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"43-50"},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/0d/bjmg-26-1-bjmg-2023-0010.PMC10413883.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10053368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Predisposition for Type 2 Diabetes Mellitus and Metabolic Syndrome.","authors":"C Zenoaga-Barbăroșie,&nbsp;L Berca,&nbsp;T Vassu-Dimov,&nbsp;M Toma,&nbsp;M I Nica,&nbsp;O A Alexiu-Toma,&nbsp;C Ciornei,&nbsp;A Albu,&nbsp;S Nica,&nbsp;C Nistor,&nbsp;R Nica","doi":"10.2478/bjmg-2023-0003","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0003","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS) are diseases caused by the interaction of genetic and non-genetic factors. Therefore, the aim of our study was to investigate the association between six common genetic polymorphisms and T2DM and MetS in males. A total of 120 T2DM, 75 MetS, and 120 healthy controls (HC) were included in the study. <i>ACE</i> ID, <i>eNOS</i> 4a/b, <i>ATR1</i> A1166C, <i>OXTR</i> (A>G), <i>SOD1</i> +35A/C, <i>CAT</i>-21A/T gene polymorphisms were genotyped by PCR or PCR-RFLP techniques. T2DM was diagnosed at an earlier age compared to MetS (54 vs 55 years old, p=0.0003) and the difference was greater in carriers of the <i>OXTR</i> G allele (54 vs 56 years old, p=0.0002) or both <i>OXTR</i> G and <i>eNOS</i> b alleles (54 vs 56, p=0.00016). The <i>SOD1</i> AA genotype (O.R.=0.11, p=0.0006) and the presence of both <i>ACE</i> I and <i>OXTR1</i> A (O.R.=0.39, p=0.0005) alleles revealed to be protective for T2DM. <i>SOD1</i> AA and AC genotypes were protective factors for triglyceride (p=0.0002 and p=0.0005, respectively) and HDL cholesterol (p=0.0002 and p=0.0004, respectively) levels in T2DM patients. <i>ACE</i> DD was identified more frequently in hypertensive T2DM patients (O.R.=3.77, p=0.0005) and in those who reported drinking alcohol (p=0.0001) comparing to HC and T2DM patients who did not drink alcohol, respectively. We observed that T2DM patients who reported drinking alcohol had an increased frequency of <i>ACE</i> DD and <i>eNOS</i> bb (p<0.0001), or <i>ACE</i> DD and <i>OXTR</i> G (p<0.0001) compared to non-drinkers. No gene polymorphisms were associated with MetS.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 1","pages":"21-26"},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/16/8b/bjmg-26-1-bjmg-2023-0003.PMC10413885.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10371932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}