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  • 1
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    Online Resource
    Findings from ACGH in patient with psychomotor delay-case report
    University of Sarajevo, Institute for Genetic Engineering and Biotechnology ; 2019
    In:  Genetics & Applications Vol. 3, No. 3 ( 2019-12-24), p. 38-41
    Details
    In: Genetics & Applications, University of Sarajevo, Institute for Genetic Engineering and Biotechnology, Vol. 3, No. 3 ( 2019-12-24), p. 38-41
    Abstract: Initial testing of children with psychomotor delays considers karyotype analysis and metabolic tests. However, introduction of Array Comparative Genomic Hybridization (ACGH) has become the standard method of diagnostics worldwide. ACGH is a highly sensitive method which enables detection of unbalanced chromosomal aberrations and aneuploidies. In this case report, a patient is a sixteen year old girl born to unrelated parents with mild mental retardation and psychomotor delay, hyperacusis, epilepsy, silent nasal speech, clinodactyly of the V finger on left hand, as well as low set ears. Patient had a karyotype interpreted as normal using GTG band analysis. Array CGH was performed using Agilent SurePrint G3 custom CGH+SNP Microarray 8x60K (UCSC, hg19, NCBI Build 37, February,2009). Results were analyzed by CytoGenomics 3.0 Agilent software. Results of aCGH revealed clinically significant duplication of 17q25.1-q25.3 region with the size of~7.96Mb. Within the duplicated region 217 genes are present, of which 36 are described as OMIM morbid. Duplications of similar size are described in DECIPHER date base in patients with psychomotor delay, hyperactivity and neoplasm of CNS. Besides duplication, a ~755kb clinically significant deletion was detected in the 17q25.3 region. Deletion involves 18 genes of which 2 are described as OMIM morbid: TBCD (MIM604649) and ZNF750 (MIM610226). Patient with similar deletion was described in DECIPHER date base with notable psychomotor delay. Based on these results FISH analysis is recommended for both parents in order to determine the possible carrier of inversion in the region of 17qter.
    Type of Medium: Online Resource
    ISSN: 2566-431X , 2566-2937
    URL: Article
    DOI: 10.31383/ga.vol3iss3pp38-41
    Language: Unknown
    Publisher: University of Sarajevo, Institute for Genetic Engineering and Biotechnology
    Publication Date: 2019
    detail.hit.zdb_id: 2941953-0
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  • 2
    Online Resource
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    The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome
    Wiley ; 2021
    In:  Journal of Cellular and Molecular Medicine Vol. 25, No. 16 ( 2021-08), p. 8047-8061
    Details
    In: Journal of Cellular and Molecular Medicine, Wiley, Vol. 25, No. 16 ( 2021-08), p. 8047-8061
    Abstract: Irritable bowel syndrome (IBS) is a gut‐brain disorder in which symptoms are shaped by serotonin acting centrally and peripherally. The serotonin transporter gene SLC6A4 has been implicated in IBS pathophysiology, but the underlying genetic mechanisms remain unclear. We sequenced the alternative P2 promoter driving intestinal SLC6A4 expression and identified single nucleotide polymorphisms (SNPs) that were associated with IBS in a discovery sample. Identified SNPs built different haplotypes, and the tagging SNP rs2020938 seems to associate with constipation‐predominant IBS (IBS‐C) in females. rs2020938 validation was performed in 1978 additional IBS patients and 6,038 controls from eight countries. Meta‐analysis on data from 2,175 IBS patients and 6,128 controls confirmed the association with female IBS‐C. Expression analyses revealed that the P2 promoter drives SLC6A4 expression primarily in the small intestine. Gene reporter assays showed a functional impact of SNPs in the P2 region. In silico analysis of the polymorphic promoter indicated differential expression regulation. Further follow‐up revealed that the major allele of the tagging SNP rs2020938 correlates with differential SLC6A4 expression in the jejunum and with stool consistency, indicating functional relevance. Our data consolidate rs2020938 as a functional SNP associated with IBS‐C risk in females, underlining the relevance of SLC6A4 in IBS pathogenesis.
    Type of Medium: Online Resource
    ISSN: 1582-1838 , 1582-4934
    URL: Issue
    URL: Article
    DOI: 10.1111/jcmm.v25.16
    DOI: 10.1111/jcmm.16736
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2076114-4
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  • 3
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    PPARGC1A gene polymorphism and its association with obesity-related metabolic traits in Serbian adolescent population
    National Library of Serbia ; 2022
    In:  ABI Genetika Vol. 54, No. 3 ( 2022), p. 1375-1384
    Details
    In: ABI Genetika, National Library of Serbia, Vol. 54, No. 3 ( 2022), p. 1375-1384
    Abstract: PPARGC1A is involved in many metabolic processes including normal mitochondrial biogenesis, oxidation of glucose and lipids and transport of glucose into skeletal muscles. Previous researches linked this polymorphism with the higher risk of developing type 2 diabetes, metabolic syndrome and obesity. The aim of the study was to investigate the association of Gly482Ser with body mass index (BMI), fasting glucose levels and lipid profile in Serbian adolescents. The study included 147 boys and 150 girls, 15 years of age. Anthropometric and biochemical parameters were recorded. Cardiovascular and malignant diseases, type 2 diabetes, cerebral palsy and genetics syndrome were criteria for exclusion. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (RFLP) assay. The results showed that boys carriers of GG genotype had statistically higher mean values of TC compared to the boys who were carriers of GA+AA genotypes (p=0.033). However, statistical significance was not obtained for the other analyzed parameters. Furthermore, in the group of overweight and obese children, higher mean values of TC and LDL-C were observed in the carriers of GG genotype compared to carriers of GA+AA genotype for all the adolescents, as well as in the group of girls. No correlation was observed for values of BMI, fasting blood glucose and levels of triglycerides. To confirm these results, further research with larger sample size and non-genetics factor taking into consideration, would be of great interest.
    Type of Medium: Online Resource
    ISSN: 0534-0012 , 1820-6069
    URL: Article
    DOI: 10.2298/GENSR2203375V
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2022
    detail.hit.zdb_id: 2585955-9
    SSG: 12
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  • 4
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    Online Resource
    The prevalence of VKORC1 alleles in the population of the Republic of Srpska, Bosnia and Herzegovina
    Centre for Evaluation in Education and Science (CEON/CEES) ; 2023
    In:  Scripta Medica Vol. 54, No. 2 ( 2023), p. 175-179
    Details
    In: Scripta Medica, Centre for Evaluation in Education and Science (CEON/CEES), Vol. 54, No. 2 ( 2023), p. 175-179
    Abstract: Background/Aim: Warfarin is one of the most common orally prescribed anticoagulant in patients with deep venous thrombosis, myocardial or cerebral infarctions. The main side effects of non-adequate dose of these drugs are prolonged peripheral or internal bleeding. VKORC1 1173C 〉 T polymorphism (rs9934438) is of particular importance, since carriers of non-wild type allele correlates with the lower dosage of warfarin therapy. Thus, the aim of the research was to determine the distribution of 1173C 〉 T polymorphism in population of the Republic of Srpska, Bosnia and Herzegovina (RS) and to compare results with frequencies in other populations. Methods: A total of 124 healthy participants of both genders were enrolled in the study, from all parts of the RS. Molecular genotyping was performed by real-time PCR, using drug metabolism assays according to the manufacturer's instructions. Results: Of the total number, 22 subjects (17.74 %) were genotyped as CC, 69 subjects (55.65 %) as CT and 33 subjects (26.61 %) as TT. The frequencies of alleles C and T were 45.18 % and 54.82 %, respectively. No statistical significance was found among allele distribution between genders (ch² = 0.236; p = 0.627). All observed genotype frequencies were in Hardy-Weinberg equilibrium. No statistical significance was observed among the frequency of minor T allele between presented findings and other European countries, besides Russia (p = 0.021). Conclusion: This was the first study analysing the distribution of rs9934438 alleles in population of the RS. These findings will be helpful in better and more precise drug prescribing in patients who require anticoagulant therapy.
    Type of Medium: Online Resource
    ISSN: 2490-3329 , 2303-7954
    URL: Article
    DOI: 10.5937/scriptamed54-43841
    Language: English
    Publisher: Centre for Evaluation in Education and Science (CEON/CEES)
    Publication Date: 2023
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  • 5
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    Online Resource
    Fecal Microbiome Diversity in Irritable Bowel Syndrome (IBS) Clinical Subtypes
    Fortune Journals ; 2021
    In:  Archives of Clinical and Biomedical Research Vol. 05, No. 01 ( 2021)
    Details
    In: Archives of Clinical and Biomedical Research, Fortune Journals, Vol. 05, No. 01 ( 2021)
    Type of Medium: Online Resource
    ISSN: 2572-5017
    URL: Journal
    URL: Article
    DOI: 10.26502/acbr
    DOI: 10.26502/acbr.50170155
    Language: Unknown
    Publisher: Fortune Journals
    Publication Date: 2021
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  • 6
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    GPX3 rs8177412 Polymorphism Modifies Risk of Upper Urothelial Tumors in Patients with Balkan Endemic Nephropathy
    MDPI AG ; 2023
    In:  Medicina Vol. 59, No. 8 ( 2023-08-04), p. 1421-
    Details
    In: Medicina, MDPI AG, Vol. 59, No. 8 ( 2023-08-04), p. 1421-
    Abstract: Current data suggest that aristolochic acid (AA) exposure is a putative cause of Balkan endemic nephropathy (BEN), a chronic kidney disease strongly associated with upper tract urothelial carcinoma. The cellular metabolism of AA is associated with the production of reactive oxygen species, resulting in oxidative distress. Purpose: Therefore, the aim of this study was to analyze individual, combined and cumulative effect of antioxidant gene polymorphisms (Nrf2 rs6721961, KEAP1 rs1048290, GSTP1AB rs1695, GSTP1CD rs1138272, GPX3 rs8177412 and MDR1 rs1045642), as well as GSTP1ABCD haplotypes with the risk for BEN development and associated urothelial cell carcinoma in 209 BEN patients and 140 controls from endemic areas. Experimental method: Genotyping was performed using polymerase chain reaction (PCR) and PCR with confronting two-pair primers (PCR-CTTP) methods. Results: We found that female patients carrying both variant GPX3 rs8177412 and MDR1 rs1045642 genotypes in combination exhibited significant risk towards BEN (OR 1 = 3.34, 95% CI = 1.16–9.60, p = 0.025; OR 2 = 3.79, 95% CI = 1.27–11.24, p = 0.016). Moreover, significant association was determined between GPX3rs8174412 polymorphism and risk for urothelial carcinoma. Carriers of variant GPX3*TC + CC genotype were at eight-fold increased risk of BEN-associated urothelial tumors development. There was no individual or combined impact on BEN development and BEN-associated tumors among all examined polymorphisms. The haplotype consisting of variant alleles for both polymorphisms G and T was associated with 1.6-fold increased risk although statistically insignificant (OR = 1.64; 95% CI = 0.75–3.58; p = 0.21). Conclusions: Regarding GPX3 rs8177412 polymorphism, the gene variant that confers lower expression is associated with significant increase in upper urothelial carcinoma risk. Therefore, BEN patients carrying variant GPX3 genotype should be more frequently monitored for possible upper tract urothelial carcinoma development.
    Type of Medium: Online Resource
    ISSN: 1648-9144
    URL: Article
    DOI: 10.3390/medicina59081421
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2088820-X
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  • 7
    Online Resource
    Online Resource
    Identification of gene candidates associated with Irritable bowel syndrome
    Centre for Evaluation in Education and Science (CEON/CEES) ; 2022
    In:  Scripta Medica Vol. 53, No. 4 ( 2022), p. 327-331
    Details
    In: Scripta Medica, Centre for Evaluation in Education and Science (CEON/CEES), Vol. 53, No. 4 ( 2022), p. 327-331
    Abstract: Background/Aim: Irritable bowel syndrome (IBS) belongs to the gastrointestinal disorders characterised by abdominal discomfort and pain, altered constipation, diarrhoea and stomach distension. The aim was to assess relationship between the selected genetic polymorphisms with IBS, their combined genotype effect as well as to assess a difference in the distribution of allele and genotype frequencies of selected loci between case and control group. Methods: This was a prospective study which included 29 participants, 20 individuals diagnosed with IBS based on Rome III criteria and 9 healthy individuals. The study analysed the selected genetic polymorphisms as possible risk factors for IBS according to the model of the case-control study. Genotyping was performed for FKBP5, DRD2 and DAT polymorphisms qualified as risk factors for IBS in previous researches. Results: The results revealed a significant association between DAT polymorphism with IBS, both, at the allelic level (p = 0.006) and genotype level (p = 0.031). Individuals with 434 allelic variant in the genotype have six time higher probability for developing IBS, in comparison to the individuals without this allelic variant. The statistical association between other analysed polymorphism and IBS was not reached. The analysis of combined effects of selected polymorphisms revealed no association with IBS, except FKBP5 and DAT which result was at the level of statistical significance (p = 0.05). Conclusion: Further analysis which would include DAT polymorphism with larger sample size, as well as other genes involved in dopamine neurotransmitter system would be of great interest to define closer conclusion of IBS aetiology.
    Type of Medium: Online Resource
    ISSN: 2490-3329 , 2303-7954
    URL: Article
    DOI: 10.5937/scriptamed53-39890
    Language: English
    Publisher: Centre for Evaluation in Education and Science (CEON/CEES)
    Publication Date: 2022
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