Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype
Publication date: Available online 28 August 2018Source: Meta GeneAuthor(s): Francesca Cortini, Chiara Villa, Barbara Marinelli, Sara Franchetti, Manuela Seia, Angela Cecilia Pesatori, Nicola Montano, Alessandra BassottiAbstractClassical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder (HCTD) characterized by skin hyperelasticity, joint hypermobility and general tissue fragility. Mutations in COL5A1 and COL5A2 genes, encoding the type V collagen proalpha-1 (pro-α1) and proalpha-2 (pro-α2) chains respectively, are responsible of approximately 90% cEDS patients. The molecular basis of cEDS ...
Source: Meta Gene - August 29, 2018 Category: Genetics & Stem Cells Source Type: research

Development and characterization of Novel Microsatellite markers in great snakehead, Channa marulia (Hamilton, 1822)
Publication date: Available online 28 August 2018Source: Meta GeneAuthor(s): Abhinav Pathak, Rajeev K. Singh, Vindhya Mohindra, Kuldeep K. Lal, Anindya S. Barman, J.K. JenaAbstractThe species-specific microsatellite markers in the great snakehead, Channa marulia, were mined from the genome, through an enriched genomic library construction. Total 27 microsatellite loci exhibited polymorphism. The repeat containing sequences were annotated to ensure the genetic neutrality of the loci. Nineteen, consistently scorable loci were validated, and used to estimate the genetic indices in n = 67 individuals sampled from three Ind...
Source: Meta Gene - August 28, 2018 Category: Genetics & Stem Cells Source Type: research

Association of tumor necrosis factor-alpha gene promoter polymorphism and its mRNA expression level in coronary artery disease
Publication date: Available online 25 August 2018Source: Meta GeneAuthor(s): Parham Nejati, Samaneh Naeimipour, Aref Salehi, Majid ShahbaziAbstractBackgroundumor necrosis factor-alpha (TNF-α) is a pro-inflammatory cytokine that may play an important role in inflammatory diseases like coronary artery disease (CAD). As a result of controversy on the impact of polymorphisms in the promoter region of TNF-α gene on transcription, this case control study was designed to evaluate the effects of TNF-α -308G > A (rs1800629) and TNF-α − 238G > A (rs361525) on mRNA expression level and ...
Source: Meta Gene - August 25, 2018 Category: Genetics & Stem Cells Source Type: research

Therapeutic effects of Spirulina against experimentally-induced non-alcoholic fatty liver in rats may involve miR-21, -34a and -122
Conclusion: Spirulina treatment of HFD-NAFL in rats modulated glucose, insulin sensitivity and showed anti-steatotic properties; effects that could be attributed at least partially to modulating hepatic microRNA expression. In conclusion, Spirulina can be considered as a potential anti-steatotic agent and might provide promising therapeutic approaches in NAFLD. (Source: Meta Gene)
Source: Meta Gene - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

A case report of Duchenne muscular dystrophy; identification of a novel mutation in dystrophin gene using next generation sequencing
Publication date: Available online 23 August 2018Source: Meta GeneAuthor(s): Atieh Teymoori, Mohsen Azimi-Nezhad, Reza Ebrahimzadeh-VesalAbstractDuchenne muscular dystrophy (DMD) is one of the most common form of neuromuscular dystrophy in male children. Mutation in Dystrophin gene is responsible for DMD disease. Here, we aimed to identify the possible causing mutation(s) in a 9-year-old male patient with muscular dystrophy. Multiplex Ligation-dependent Probe Amplification (MLPA) results did not find deletions/duplications mutations. Next generation sequencing (NGS) results indicated a hemizygous nonsense c.3655G > ...
Source: Meta Gene - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Bioinformatics analysis of a novel Glutaredoxin gene segment from a hot spring metagenomic DNA library
Publication date: Available online 18 August 2018Source: Meta GeneAuthor(s): N. Rawat, A. Shanker, G.K. JoshiAbstractThe present work describes the sequence, phylogenetic and structure analysis of a clone with insert size of 820 nucleotides obtained from the metagenomic library prepared from a hot spring located in the state of Uttarakhand, India. Open Reading Frame analysis revealed a coding sequence of 420 nucleotides. This region encodes a protein of 139 amino acids which depicts homologous relationship with glutaredoxin of Thermus sp. Multiple sequence alignment shows the classic glutaredoxin domain with a redox active...
Source: Meta Gene - August 19, 2018 Category: Genetics & Stem Cells Source Type: research

Genetic stability using RAPD and ISSR markers in efficiently in vitro regenerated plants of Inula royleana DC
Publication date: Available online 18 August 2018Source: Meta GeneAuthor(s): Samar Amin, Tareq A. Wani, Zahoor Ahmad Kaloo, Seema Singh, Riffat John, Umer Majeed, Gowhar Ahmad ShapooAbstractInula royleana (Asteraceae) is a perennial medicinal herb native to Western Himalaya. In Kashmir Himalaya it is commonly known as ‘GugiPhool’. The plant has been traditionally used for various putative health benefits like headache, intestinal problems and blood pressure. The plant is rich source of alkaloids and other metabolites. The important medicinal properties which include antimicrobial, anti-inflammatory, antiprolife...
Source: Meta Gene - August 18, 2018 Category: Genetics & Stem Cells Source Type: research

Assessment of serum level of MiRNAs before and after treatment with sofosbuvir in Egyptian patients with chronic HCV infection
In conclusion, aberrantmiRNA array especially miR-122 and miR-221could potentially extract data for HCV patients in response to combined new therapy. These findings empathizes the importance of contributing the role of miRNAsduring presence and clearance of HCV. (Source: Meta Gene)
Source: Meta Gene - August 16, 2018 Category: Genetics & Stem Cells Source Type: research

Association of the 16q24.3 region gene variants rs1805007 and rs4785763 with heightened risk of melanoma in Latvian population
Publication date: Available online 14 August 2018Source: Meta GeneAuthor(s): Aija Ozola, Dace Ruklisa, Dace PjanovaAbstractChromosome region 16q24.3 has been shown to modify the risk for developing melanoma in genome-wide association studies (GWAS). This region includes at least three SNPs for which significant independent effects on melanoma risk have been demonstrated: rs258322 (CDK10 intron), rs4785763 (pseudogene AFG3L1P), and rs8059973 (flanking 5′UTR of DBNDD1). Also variants within the MC1R gene, located in the same region, are known to be associated with an increased melanoma risk. However, the exact risk the...
Source: Meta Gene - August 14, 2018 Category: Genetics & Stem Cells Source Type: research

Endophytic bacterial community of rice (Oryza sativa L.) from coastal saline zone of West Bengal: 16S rRNA gene based metagenomics approach
This study has enumerated the diversity of endophytic bacteria from rice grown in the saline zone of West Bengal that would help us to design a better strategy for cultivation under abiotic stress condition. (Source: Meta Gene)
Source: Meta Gene - August 14, 2018 Category: Genetics & Stem Cells Source Type: research

Polymorphism analysis in genes associated with meat tenderness in Nelore cattle
Publication date: Available online 10 August 2018Source: Meta GeneAuthor(s): Camila Urbano Braz, Jeremy Francis Taylor, Jared Egan Decker, Tiago Bresolin, Rafael Espigolan, Diogo Anastácio Garcia, Daniel Gustavo Mansan Gordo, Ana Fabrícia Braga Magalhães, Lucia Galvão de Albuquerque, Henrique Nunes de OliveiraAbstractThe aims of this study were to identify haplotyped loci associated with meat tenderness (WBSF) in candidate genes and to search for new polymorphisms in these regions that influence such trait in Nelore cattle. Fifty-two genes that had previously been associated with WBSF or that ha...
Source: Meta Gene - August 11, 2018 Category: Genetics & Stem Cells Source Type: research

Association of TAS2R38 polymorphism with measures of adiposity in Indian population
ConclusionTasting ability and adiposity measures are associated in Indian population. Large scale studies are required for evaluating the association of tasting status on adiposity in India. (Source: Meta Gene)
Source: Meta Gene - August 8, 2018 Category: Genetics & Stem Cells Source Type: research

Adenosine A2A receptor gene polymorphisms (ADORA2A) are associated with maximal concentric contraction pain
ConclusionsADORA2A polymorphisms are moderately associated with muscle pain during maximal contractions in uninjured muscle. (Source: Meta Gene)
Source: Meta Gene - July 28, 2018 Category: Genetics & Stem Cells Source Type: research

A review on effect of genetic features on treatment responses in acute myeloid leukemia
Conclusion: Incorporating this knowledge into the clinical settings is important enough in order to improve the disease outcome and clinical management of patients with AML. (Source: Meta Gene)
Source: Meta Gene - July 28, 2018 Category: Genetics & Stem Cells Source Type: research

Lack of association between the toll-like receptor 4 gene c.896A > G polymorphism and the predisposition to periodontal disease: An updated systematic review and meta-analysis
Publication date: Available online 25 July 2018Source: Meta GeneAuthor(s): Nuno Gonçalves-Anjo, Fátima Leite-Pinheiro, António Cortinhas, Teresa Bento, José Carlos Leitão, Isabel Dias, Carlos Viegas, Estela Bastos (Source: Meta Gene)
Source: Meta Gene - July 25, 2018 Category: Genetics & Stem Cells Source Type: research

Idiopathic premature ovarian failure and its association to the abnormal longitudinal changes of telomere length in a population of Iranian infertile women: A pilot study
This study examines the association between the relative telomere length and idiopathic POF in a group of Iranian women.MethodsThe blood genomic DNA was extracted from 40 idiopathic POF patients (case group) and 40 fertile women (control group). The relative telomere length (RTL) was evaluated by quantitative Real-Time PCR using specific telomeric primers. RTL was calculated as T (telomere)/S (single copy gene) ratio and compared between infertile and fertile groups.ResultsA strong association was considered between telomere size and idiopathic premature ovarian failure. In patients the relative telomere length showed to b...
Source: Meta Gene - July 25, 2018 Category: Genetics & Stem Cells Source Type: research

Synergistic interactions of Angiotensin Converting Enzyme (ACE) gene and Apolipoprotein E (APOE) gene polymorphisms with T1DM susceptibility in south India
Publication date: Available online 25 July 2018Source: Meta GeneAuthor(s): Padma-Malini Ravi, Rathika Chinniah, Ramgopal Sivanadham, Murali Vijayan, Dharmarajan Pannerselvam, S. Pushkala, Balakrishnan KaruppiahAbstractType 1 diabetes mellitus (T1DM) is an autoimmune endocrine disease, in which both gene-gene and gene-environmental factors play a key role in the development and progression of the disease. The main aim of the present study was to determine the association of Angiotensin Converting Enzyme (ACE) and Apolipoprotein E (APOE) gene polymorphisms in T1DM patients. A cohort of 196 T1DM patients (n = 196) and age...
Source: Meta Gene - July 25, 2018 Category: Genetics & Stem Cells Source Type: research

The role of chemerin and vaspin in Egyptian patients with viral hepatitis C
ConclusionThis study investigated and demonstrated that there is correlation between serum chemerin and vaspin levels and stages of fibrosis compared to controls, where the serum chemerin level increases in chronic hepatitis C patients compared to controls and increases with progression of stage of fibrosis. Whereas the serum vaspin level decreases in chronic hepatitis C patients compared to controls and increases with progression of stage of fibrosis to become near the serum levels in controls. (Source: Meta Gene)
Source: Meta Gene - July 25, 2018 Category: Genetics & Stem Cells Source Type: research

CAT-262CT Genotype shows higher catalase activity in seminal plasma and lower risk of male infertility
The objective of this study was to evaluate the correlation between the CAT C-262T polymorphism and male infertility. Semen samples from 400 infertile patients and 80 donors with proven fertility were included in the study. Standart semen parameters, DNA integrity and oxidative stress were evaluated. Genotype frequencies for the CAT C-262T polymorphism were determined by PCR-RFLP. Catalase concentration and activity in seminal plasma were evaluated by western-blot and activity gels respectively while catalase mRNA levels in mature spermatozoa were evaluated by qPCR. The CC genotype was associated with an increased risk of ...
Source: Meta Gene - July 25, 2018 Category: Genetics & Stem Cells Source Type: research

Assessment of the rs2645424 C/T single nucleotide polymorphisms in the FDFT1 gene, hepatic expression, and serum concentration of the FDFT in patients with nonalcoholic fatty liver disease
Publication date: Available online 23 July 2018Source: Meta GeneAuthor(s): Yasar Colak, Ender M. Coskunpinar, Ebubekir Senates, Yasemin Musteri Oltulu, Ilhan Yaylim, Ozlem Kurnaz Gomleksiz, N. Ozan Tiryakioglu, Burcu Hasturk, Cumhur Gokhan Ekmekci, Hulya Yilmaz AydoganAbstractDespite being the most common chronic liver disease, the pathogenesis of nonalcoholic fatty liver disease (NAFLD) still remains unclear. According to the genome-wide association studies (GWAS) alternative alleles of the farnesyl-diphosphate farnesyltransferase 1 (FDFT1) gene involved in cholesterol biosynthetic pathway are known to affect hepatic squa...
Source: Meta Gene - July 24, 2018 Category: Genetics & Stem Cells Source Type: research

Role of myeloperoxidase in hepatitis C virus related hepatocellular carcinoma
This study was conducted on a total number of 59patients. These were subdivided into 25patients of hepatocellular carcinoma and 34 patients of chronic liver diseases (CLDs) with cirrhosis. All studied 59patients were associated with HCV infection. All patients were examined immunohistochemically to demonstrate the expression of MyeloperoxidaseResultsConcerning the expression of Myeloperoxidase in HCC and cirrhoticpatients; the study revealed that more MPO expression was found in HCC cases when compared with cirrhoticpatients (P –value
Source: Meta Gene - July 20, 2018 Category: Genetics & Stem Cells Source Type: research

Identification of S100 calcium binding protein A9 as a prognostic biomarker in gallbladder cancer
Publication date: Available online 11 July 2018Source: Meta GeneAuthor(s): Shushruta Bhunia, Sanjeev Gupta, Braj Raj Shrivastava, Pramod Kumar TiwariAbstractBackgroundGallbladder cancer (GBC) is the most lethal orphan malignancy of biliary tract, with poor prognosis and varied global incidences, predominately reported from, Northern India. Moreover, early diagnostic biomarker(s) of GBC is still undetermined. Earlier studies have demonstrated that S100A9 is associated with the prognosis of various malignancies. S100A9 (calgranulin B or Myeloid Related Protein-14) is a calcium binding protein which has wide range of possible...
Source: Meta Gene - July 11, 2018 Category: Genetics & Stem Cells Source Type: research

Association study between STAT4 polymorphisms and susceptibility to systemic lupus erythematosus disease: A systematic review and meta-analysis
ConclusionsIn summary, this study reported association between rs7574865 and increased risk of SLE, although rs7601754 indicated association with decreased SLE risk. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Role of matrix metalloproteinase-9 polymorphisms in basement membrane degradation and pathogenesis of oral submucous fibrosis
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Atul Katarkar, Chandraday Prodhan, Sanjit Mukherjee, Jay G. Ray, Keya ChaudhuriAbstractOral submucous fibrosis (OSMF) is regarded as a collagen and collagenase metabolic disorder. Aberrant expression of matrix metalloproteinases (especially MMP-9) plays important role in remodeling of extracellular matrix (ECM) during development of OSMF. Single nucleotide polymorphisms (SNPs) in MMP-9 promoter and coding region have been demonstrated to be associated with several diseases. In this case-control study, 196 controls and 189 OSMF patients were genotyped at four...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Editorial Board
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of interleukin-18 gene promoter polymorphisms with coronary artery disease in northern Iranian population
This study investigated the association of the IL-18 gene promoter polymorphisms (− 137 and − 607) with CAD in northern Iranian population.MethodsGenomic DNA was extracted from peripheral blood of 314 patients with CAD and 364 healthy controls by a standard protocol. Sequence-Specific Primer-PCR was used for genotyping. Total RNA was extracted from peripheral blood leukocytes from 80 patients with CAD and 80 healthy individuals using Trizol reagent. Real-time PCR was used to measure the level of IL-18 mRNA in the patients and controls.ResultsAnalysis of genotypes revealed that the frequencies of genot...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of Neuregulin-1 gene polymorphisms with neuro-cognitive features of schizophrenia patients from South India: A pilot study
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Smriti Anand, Amudha Govindaraju, Vinithra Vairavan, Suresh Kumar Narayanan, Rashmi Rajagopal, Anirudh Chellappa, Ashok Ayyappa, Kumanan Thiagarajan, Ananda Krishnan Kumar, GaneshPrasad ArunKumarAbstractNumerous genes have been associated with schizophrenia. In particular, Neuregulin-1 (NRG1) has been widely implicated. Specifically, a 7-marker haplotype called HAPICE in NRG1 is correlated with schizophrenia in many ethnic groups. However, the association of these markers with endophenotypes has shown many contrasting results. India, which harbours one sixth...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Bioenergetic diversity of the human gut microbiome
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Panagiotis Agioutantis, Vassiliki Lila KoumandouAbstractThe human microbiome has lately emerged as an important factor in health and disease. The general patterns that emerge from metagenomics studies of the microbial diversity in the human gut of healthy adults, children and infants, are that (a) the microbiome is less diverse early in life, and gets enriched after infancy, and (b) that it is dominated by organisms from two bacterial phyla: bacteroidetes and firmicutes. However, there is still considerable diversity between individuals, based on age, habita...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Molecular characterization and differential mRNA expression profiling of Toll-like receptor-2 gene in Vechur (Bos indicus) and crossbred (Bos indicus X Bos taurus) cattle of Kerala in response to anthrax vaccination
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): P.N. Shivakumara, T.V. Aravindakshan, Thomas Naicy, K. Anilkumar, R. UmaAbstractToll like receptors (TLRs) are type 1 transmembrane proteins expressed in almost all cell types and activate the innate immune system. The present study involved characterization and differential transcriptional expression profiling of Toll-like receptor-2 gene in Vechur (Bos indicus) and crossbred (Bos indicus X Bos taurus) cattle of Kerala in response to anthrax vaccination. Sequence analysis revealed 2355 bp long TLR2 open reading frame encoding 784 amino acids with a signal...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Genotypes and haplotypes of ABCB1 contribute to TAC chemotherapy response in Malaysian triple negative breast cancer patients
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Ahmad Aizat Abdul Aziz, Md Salzihan Md Salleh, Ibtisam Mohamad, Venkata Murali Krishna Bhavaraju, Maya Mazuwin Yahya, Andee Dzulkarnaen Zakaria, Siew Hua Gan, Ravindran AnkathilAbstractTriple negative breast cancer (TNBC) which is characterized by absent expression of ER, PR and HER2 receptors, is typically associated with poor treatment response and high recurrence risk rate or metastasis. ABCB1 is a drug efflux enzyme, involved in the drug transport across the membrane. Evidence have shown that, activation (or inactivation) of ABCB1 drug transporter gene m...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Genetic diversity analyses for population structuring in Channa striata using mitochondrial and microsatellite DNA regions with implication to their conservation in Indian waters
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Vishwamitra Singh Baisvar, Ravindra Kumar, Mahender Singh, Ajay Kumar Singh, U.K. Chauhan, Akhilesh Kumar Mishra, Basdeo KushwahaAbstractThe snakehead murrel Channa striata, with extensive distribution in Asia, is important in both culture and capture fisheries. Wild sub-populations of C. striata from Indian waters were analyzed in the present study using mitochondrial cytochrome b gene and nuclear microsatellite loci for genetic diversity assessment and sub-population structuring with the expectations that this fish have resulted in isolated sub-populations...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

A multifactor dimensionality reduction model of gene polymorphisms and an environmental interaction analysis in type 2 diabetes mellitus study among Punjabi, a North India population
In conclusion, it is suggested that pathogenesis of T2DM, obesity and hypertension involves interplay of a variety of susceptibility alleles and environment. The gene-gene and gene-environment interactions are not only possible, but, are probably ubiquitous in determining the susceptibility of complex human diseases. Further studies on epistatic interactions are warranted to elucidate their possible underlying role in pathogenesis of T2DM. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of IRX3 rs3751723 polymorphism with the risk of overweight and obesity: case-control study and meta-analysis
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Eric Tzyy Jiann Chong, Nur Fathiah Abdul Aziz, Ping-Chin LeeAbstractAssociation of the iroquois homeobox 3 (IRX3) rs3751723 polymorphism has been shown to increase the risk of obesity, but the data are underreported in the Malaysian population. Therefore, this study sought to investigate this association in the Malaysian population using both a case-control study and a meta-analysis. Genotyping of the IRX3 rs3751723 polymorphism was performed for 1030 age-matched Malaysians using hydrolysis probe. Odds ratios were calculated with 95% confidence intervals. A ...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Co-evolving pairs of complementary nucleotide sequence regions as candidates for bundling signals in viruses with segmented genomes
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Yoshiyuki SuzukiAbstractSome of RNA viruses with segmented genomes are believed to undergo selective packaging, in which one copy of each genomic segment is incorporated into a virion. The selective packaging is thought to be mediated by supra-molecular complex formation of genomic RNA segments through inter-segmental base pairing of complementary nucleotide sequence regions termed the bundling signal. Here the nucleotide sequences of 10 genomic segments (large: L1, L2, and L3; medium: M1, M2, and M3; and small: S1, S2, S3, and S4) for 29 avian (ARV) and 8 p...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association between serum microRNA-605 and microRNA-623 expression and essential hypertension in Egyptian patients
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Heba K. Badawy, Dina M. Abo-Elmatty, Noha M. MesbahAbstractEssential hypertension is widespread and has significant morbidity and mortality. However, the genetic basis of the disease is unknown. MicroRNAs are post-transcriptional regulators and have been implicated in development of the disease. The aim of this study was to assess the relationship between serum microRNA-605 and microRNA-623 expression and essential hypertension in Egyptian patients. MicroRNA expression in serum was determined in hypertensive patients and normotensive controls by quantitative...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Cholesterol 7- alpha hydroxylase gene (CYP7A1) promoter polymorphism rs3808607 as a risk factor for pulmonary tuberculosis in Egypt
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Nevein M. Al-sheikh, Sally M. El-Hefnway, Ahlam A. El-ShetahyAbstractBackgroundA major tuberculosis susceptibility locus has been identified by genome wide association study on chromosomal region 8q12-q13. The CYP7A1 gene coding for cholesterol 7a-hydroxylase enzyme is located in this locus, this enzyme is involved in cholesterol catabolism.ObjectiveThe aim of the study is to investigate C/A polymorphism rs3808607 at CYP7A1 gene as a risk factor for pulmonary tuberculosis in Egyptian subjects.Subjects & methodsA total number of 180 subjects divided into ...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Investigation of GRTH gene single nucleotide polymorphism in association with male infertility in Iranian population
ConclusionThe results of our study suggest that positive association of rs551373 SNP probably reveals an important role in azoospermia male infertility. Further studies with larger sample size are required to support our findings. Investigation of association of this SNP with other types of non-obstructive male infertility is also suggested. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
In this study, 25 different mutations were identified among 68 unrelated South-American patients with MPS IVA. Of the 25 alterations, 7 were novel, being predicted as probably pathogenic by bioinformatics analysis. The bioinformatics findings together with the lack of observation of these alterations in the existing databases, suggests that they are disease-causing mutations, and were correlated with biochemical findings. Additionally, we performed the analysis using intragenic polymorphisms to identify some association between any particular mutation and specific haplotype in Brazilian patients. We identified 14 different...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Studying association of GTF2H4, SULF1, OAS3, and IFNG genes polymorphism and risk of head and neck cancer in Southern Punjab, Pakistan
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Juweria Khawar, Nighat Fatima, Mehreen Ismail, Syed Aun MuhammadAbstractGenetic variations develop inherited tendency to progress cancer. The incidence rate of head and neck cancer (HNC) is 15–40% of all cancer types worldwide but this ratio is worse in South Asian region of Pakistan. We collected 185 samples and observed variations in IFNG, GTF2H4, OAS3 and SULF1 genes of HNC samples associated with tobacco, betel leaf and nuts, naswar and gutka. We performed the tetra-arm PCR and found significant allelic associations of IFNG rs11177074 (P = 0.00...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Discovering a familial Xp11.4 microduplication: Does the mother matter?
We describe two sons one with a 2q37.3 deletion and a Xp11.4 duplication and the other with Xp11.4 duplication only, identified by array-CGH. They both presented a phenotype characterized by poor growth, mild facial dysmorphisms, autism and developmental delay. The 2q37.3 identified chromosomal anomaly was inherited from the healthy father and included approximately 8 known genes, while the Xp11.4 duplication resulted inherited from the healthy mother and involved 13 known genes. Of these TSPAN7 and CASK, localized on Xp11.4, genes are of special interest. The alteration on the X chromosome could be more related to the cli...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Frequent novel mutations are causative for maple syrup urine disease from Southwest Iran
ConclusionAll variations somewhat can affect the structure, the function and the stability of gene products. The results obtained from this study could be useful to facilitate clinical diagnosis and screening of MSUD patients and partly for at-risk carriers and prenatal detection in the population of southwest of Iran. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Elucidation of bacterial species during childhood diarrhea through 16S rRNA Illumina Miseq approach
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Nutan Thakur, Harish Changotra, Neelam Grover, Jitendraa VashisttAbstractDiarrhea causes a debilitating infectious illness among children, especially in developing countries with higher mortality and morbidity rates. Gastrointestinal (GI) tract is occupied by complex microbial-communities structures and the composition of indigenous microbial-consortia gets altered during diseases associated with GI tract. However, effect of microbial imbalance and proliferation in childhood diarrhea severity is less understood. Therefore, present study is focused to compare...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Implication of ITS phylogeny for biogeographic analysis, and comparative study of morphological and molecular interspecies diversity in Indian Impatiens
This study gave an idea about interspecies diversity in Indian Impatiens and suggests the suitability of ISSR markers for further interspecies diversity studies in Impatiens.Graphical abstract (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Significant influence of GSTP1 Gene Ile105Val polymorphic sequence variation for elevated risk in predisposition to malignant glioma
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Iqbal Qasim, Arshad A. Pandith, Dheera Sanadhya, Wani Zahoor, Mir Khurshid Iqbal, Ina Amin, Usma Manzoor, Abdul R. Bhat, Zafar A. ShahAbstractIntroductionMalignant glioma is a brain tumor of very aggressive behavior and tissue invasion. A common polymorphic variant of GSTP1 (Ile105Val: A > G) has been associated with increased risk of various cancers including malignant glioma. Thus aim of this study was to address the association of GSTP1 Ile105Val to malignant glioma with respect to its clinico-pathological parameters.MethodThe frequency of genotype...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Differential expression analysis of JAK/STAT pathway related genes in breast cancer
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Jemmy Christy, L. PriyadharshiniAbstractAberrant activation of intracellular signaling pathways confer malignant properties on cancer cells in humans. The Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway is involved in the regulation of various aspects of the hematological system and immune regulation, and thus the JAK/STAT pathway genes are the important component of cytokine signaling. Their function as activators of various mediators of inflammation and their role in carcinogenesis puts them at important junctures with ot...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Polymorphisms rs2233575 and rs712701 in the paired box 4 gene are not associated with type 1 diabetes in children
In conclusion, the polymorphisms rs2233575 and rs712701 were not associated with T1D in the.studied population. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of KCNJ11(RS5219) gene polymorphism with biochemical markers of glycemic status and insulin resistance in gestational diabetes mellitus
ConclusionThe Polymorphism of KCNJ11 (rs5219) gene is associated with glycemic status and IR (Insulin Resistance) and pregnant women with T allele were at higher risk of developing GDM. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of MicroRNA related single nucleotide polymorphisms 196A-2 and 499 with the risk of hepatocellular carcinoma in Egyptian patients
ConclusionsMIR-SNP-499 might affect the susceptibility of Egyptians to HCC while, MIR-SNP-196A-2 may affect the HCC risk in Egyptians with HCV infection. (Source: Meta Gene)
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

A simulations approach for meta-analysis of genetic association studies based on additive genetic model
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Majnu John, Todd Lencz, Anil K Malhotra, Christoph U Correll, Jian-Ping ZhangAbstractMeta-analysis of genetic association studies is being increasingly used to assess phenotypic differences between genotype groups. When the underlying genetic model is assumed to be dominant or recessive, assessing the phenotype differences based on summary statistics, reported for individual studies in a meta-analysis, is a valid strategy. However, when the genetic model is additive, a similar strategy based on summary statistics will lead to biased results. This fact about ...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of interleukin-8 polymorphism (+781 C/T) with the risk of ovarian cancer
Publication date: June 2018Source: Meta Gene, Volume 16Author(s): Mohamad-Kian Zarafshani, Azin Shahmohammadi, Asad Vaisi-Raygani, Hoda Bashiri, Kheirollah YariAbstractIL-8 is a chemokine which plays an essential role in tumorigenesis, specifically in tumor growth, angiogenesis and invasion. Recent studies have determined that IL-8 +781C/T polymorphism correlates with some human cancers. The purpose of current study was to clarify the association of interleukin-8 polymorphism (+781 C/T) with the risk of ovarian cancer. In this case-control study, 150 samples including 50 specimens of ovarian tissue from female patients and...
Source: Meta Gene - July 10, 2018 Category: Genetics & Stem Cells Source Type: research