37 research outputs found
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Association between rs2303861 polymorphism in CD82 gene and nonalcoholic fatty liver disease: a preliminary case-control study
Aim To investigate the genetic factors involved in the development
of non-alcoholic fatty liver disease (NAFLD) and
its sequelae in a Middle Eastern population.
Methods This genetic case-control association study, conducted
in 2018, enrolled 30 patients with NAFLD and 30
control individuals matched for age, sex, and body mass
index. After quality control measures, entire exonic regions
of 3654 genes associated with human diseases were sequenced.
Allelic association test and enrichment analysis
of the significant genetic variants were performed.
Results The association analysis was conducted on 27
NAFLD patients and 28 controls. When Bonferroni correction
was applied, NAFLD was significantly associated
with rs2303861, a variant located in the CD82 gene
(P = 2.49 × 10−7, adjusted P = 0.0059). When we used Benjamini-
Hochberg adjustment for correction, NAFLD was
significantly associated with six more variants. Enrichment
analysis of the genes corresponding to all the seven
variants showed significant enrichment for miR-193b-5p
(P = 0.00004, adjusted P = 0.00922).
Conclusion A variant on CD82 gene and a miR-193b expression
dysregulation may have a role in the development
and progression of NAFLD and its sequela
Genomic prediction for growth using a low-density SNP panel in dromedary camels
For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert. A total of 99 SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.002). Genomic breeding values (GEBVs) were estimated with the BGLR package using (i) all 14,522 SNPs and (ii) the 99 SNPs by GWAS. Twenty-eight SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.001). Annotation of the genomic region (s) within ± 100 kb of the associated SNPs facilitated prediction of 36 candidate genes. The accuracy of GEBVs was more than 0.65 based on all 14,522 SNPs, but the regression coefficients for birth weight, daily gain, and body weight were 0.39, 0.20, and 0.23, respectively. Because of low sample size, the GEBVs were predicted using the associated SNPs from GWAS. The accuracy of GEBVs based on the 99 associated SNPs was 0.62, 0.82, and 0.57 for birth weight, daily gain, and body weight. This report is the first GWAS using GBS on dromedary camels and identifies markers associated with growth traits that could help to plan breeding program to genetic improvement. Further researches using larger sample size and collaboration of the camel farmers and more profound understanding will permit verification of the associated SNPs identified in this project. The preliminary results of study show that genomic selection could be the appropriate way to genetic improvement of body weight in dromedary camels, which is challenging due to a long generation interval, seasonal reproduction, and lack of records and pedigrees
Genomic prediction for growth using a low-density SNP panel in dromedary camels
For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert. A total of 99 SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.002). Genomic breeding values (GEBVs) were estimated with the BGLR package using (i) all 14,522 SNPs and (ii) the 99 SNPs by GWAS. Twenty-eight SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.001). Annotation of the genomic region (s) within ± 100 kb of the associated SNPs facilitated prediction of 36 candidate genes. The accuracy of GEBVs was more than 0.65 based on all 14,522 SNPs, but the regression coefficients for birth weight, daily gain, and body weight were 0.39, 0.20, and 0.23, respectively. Because of low sample size, the GEBVs were predicted using the associated SNPs from GWAS. The accuracy of GEBVs based on the 99 associated SNPs was 0.62, 0.82, and 0.57 for birth weight, daily gain, and body weight. This report is the first GWAS using GBS on dromedary camels and identifies markers associated with growth traits that could help to plan breeding program to genetic improvement. Further researches using larger sample size and collaboration of the camel farmers and more profound understanding will permit verification of the associated SNPs identified in this project. The preliminary results of study show that genomic selection could be the appropriate way to genetic improvement of body weight in dromedary camels, which is challenging due to a long generation interval, seasonal reproduction, and lack of records and pedigrees
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations
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Molecular diagnostic assays for COVID-19: an overview
The coronavirus disease 2019 (COVID-19) pandemic has highlighted the cardinal importance of rapid and accurate diagnostic assays. Since the early days of the outbreak, researchers with different scientific backgrounds across the globe have tried to fulfill the urgent need for such assays, with many assays having been approved and with others still undergoing clinical validation. Molecular diagnostic assays are a major group of tests used to diagnose COVID-19. Currently, the detection of SARS-CoV-2 RNA by reverse transcription polymerase chain reaction (RT-PCR) is the most widely used method. Other diagnostic molecular methods, including CRISPR-based assays, isothermal nucleic acid amplification methods, digital PCR, microarray assays, and next generation sequencing (NGS), are promising alternatives. In this review, we summarize the technical and clinical applications of the different COVID-19 molecular diagnostic assays and suggest directions for the implementation of such technologies in future infectious disease outbreaks
Evaluating the Adoption of Sustainable Marketing Strategies Towards Electronics Industries Business Performance
The modern business environment does definitely require the integration of green strategies into processes. Manufacturers of electronics products are among the many industries where businesses are significantly impacted by the growing significance of sustainability issues. As an essential part of these green strategies, green marketing techniques have the power to dramatically impact business success as well as environmental results. Therefore, using stakeholder-driven empirical framework, the objectives of this paper is to investigate the impact of several aspects, including ethical pricing, sustainable marketing, eco-friendly product, and eco-friendly location, upon the business performance of electronic industries in India. This study uses smart partial least square model, a potent analytical application, in order to clarify the complex connection involving green marketing techniques and electronics businesses' success. An online survey was performed inside the Indian electronics manufacturing industry executives and managers of the company. A total number of 160 questionnaires from managers, executives of electronic business sector were gathered for the study. The findings of the study suggested that factors a green marketing has major influence on the success of Indian electronics manufacturing businesses performance. In addition to the expanding body of information on green marketing, the research's results will be helpful to electronics companies looking to preserve or enhance their success in a cutthroat market while stepping up their efforts to be more sustainable
Association between rs2303861 polymorphism in CD82 gene and non-alcoholic fatty liver disease: a preliminary case-control study
Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report
Abstract Background Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance. Case Presentation Here we report an 8- year- old boy with OI who has had multiple fractures since birth and now he is wheelchair-dependent. To identify genetic cause of OI in our patient, whole exome sequencing (WES) was carried out and it revealed a novel deleterious homozygote splice acceptor site mutation (c.1257-2A > G, IVS7-2A > G) in FKBP10 gene in the patient. Then, the identified mutation was confirmed using Sanger sequencing in the proband as homozygous and in his parents as heterozygous, indicating its autosomal recessive pattern of inheritance. In addition, we performed RT-PCR on RNA transcripts originated from skin fibroblast of the proband to analyze the functional effect of the mutation on splicing pattern of FKBP10 gene and it showed skipping of the exon 8 of this gene. Moreover, Real-Time PCR was carried out to quantify the expression level of FKBP10 in the proband and his family members in which it revealed nearly the full decrease in the level of FKBP10 expression in the proband and around 75% decrease in its level in the carriers of the mutation, strongly suggesting the pathogenicity of the mutation. Conclusions Our study identified, for the first time, a private pathogenic splice site mutation in FKBP10 gene and further prove the involvement of this gene in the rare cases of autosomal recessive OI type XI with distinguished clinical manifestations
