Current Issue : April - June Volume : 2016 Issue Number : 2 Articles : 7 Articles
Background: Asthma is a chronic disease of the airways and, despite the advances in the knowledge of associated\ngenetic regions in recent years, their mechanisms have yet to be explored. Several genome-wide association studies\nhave been carried out in recent years, but none of these have involved Latin American populations with a high\nlevel of miscegenation, as is seen in the Brazilian population.\nMethods: 1246 children were recruited from a longitudinal cohort study in Salvador, Brazil. Asthma symptoms were\nidentified in accordance with an International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire.\nFollowing quality control, 1 877 526 autosomal SNPs were tested for association with childhood asthma symptoms\nby logistic regression using an additive genetic model. We complemented the analysis with an estimate of the\nphenotypic variance explained by common genetic variants. Replications were investigated in independent\nMexican and US Latino samples.\nResults: Two chromosomal regions reached genome-wide significance level for childhood asthma symptoms: the\n14q11 region flanking the DAD1 and OXA1L genes (rs1999071, MAF 0.32, OR 1.78, 95 % CI 1.45ââ?¬â??2.18, p-value 2.83 Ã?â?? 10âË?â??8)\nand 15q22 region flanking the FOXB1 gene (rs10519031, MAF 0.04, OR 3.0, 95 % CI 2.02ââ?¬â??4.49, p-value 6.68 Ã?â?? 10âË?â??8 and\nrs8029377, MAF 0.03, OR 2.49, 95 % CI 1.76ââ?¬â??3.53, p-value 2.45 Ã?â?? 10âË?â??7). eQTL analysis suggests that rs1999071 regulates\nthe expression of OXA1L gene. However, the original findings were not replicated in the Mexican or US Latino samples.\nConclusions: We conclude that the 14q11 and 15q22 regions may be associated with asthma symptoms in childhood....
Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly\nconfirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative.With\nthe advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it\nis found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular\ndiagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman\nand Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide\nimportant clue during the diagnostic process for clinicians....
PCR-RFLP was applied to a commercial crossbred pig population in order to investigate the association between polymorphism\n(SNP) of Retinol-binding protein 4 (RBP4) gene and reproductive performance. 400 sows were genotyped and 2000 records of\nreproductive traits were used in order to retrieve information about the allele frequencies and the association of the RBP4 gene\nwith main reproductive characteristics of the population. A deviation from the Hardy-Weinberg equilibrium was observed as a\nresult of the AB genotype excess. In addition, the AA genotype saw statistically significant higher values of (i) the total number of\nborn piglets (...
Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements.\nA variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the\ngenetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation\nprobe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize\nrearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed\nwith a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6Mb duplication is\nreported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in\nthe literature....
The retina, which is composed of multiple layers of differing cell types, has been considered the first choice for gene therapy,\ndisease modeling, and stem cell-derived retinal cell transplant therapy. Because of its special characteristics, the retina, located in\nthe posterior part of the eye, can be well observed directly after gene therapy or transplantation.The blood-retinal barrier is part of a\nspecialized ocular microenvironment that is immune privileged. This protects transplanted cells and tissue. Having two eyes makes\nperfect natural control possible after a single eye receives gene or stem cell therapy. For this reason, research about exploring retinal\ndiseases� underlying molecular mechanisms and potential therapeutic approach using stem cell technique has been developing\nrapidly. This review is to present an up-to-date summary of the iPSC�s sources, variations, differentiation methods, and the wi deranging\napplication of iPSCs-RPCS or iPSCs-RPE on retinal disease modeling, diagnostics, and therapeutics....
Background: Located in the Pacific Ocean between Australia and New Zealand, the unique population isolate of\nNorfolk Island has been shown to exhibit increased prevalence of metabolic disorders (type-2 diabetes, cardiovascular\ndisease) compared to mainland Australia. We investigated this well-established genetic isolate, utilising its unique\ngenomic structure to increase the ability to detect related genetic markers. A pedigree-based genome-wide\nassociation study of 16 routinely collected blood-based clinical traits in 382 Norfolk Island individuals was\nperformed.\nResults: A striking association peak was located at chromosome 2q37.1 for both total bilirubin and direct bilirubin, with\n29 SNPs reaching statistical significance (P < 1.84 Ã?â?? 10âË?â??7). Strong linkage disequilibrium was observed across a 200 kb\nregion spanning the UDP-glucuronosyltransferase family, including UGT1A1, an enzyme known to metabolise bilirubin.\nGiven the epidemiological literature suggesting negative association between CVD-risk and serum bilirubin we further\nexplored potential associations using stepwise multivariate regression, revealing significant association between\ndirect bilirubin concentration and type-2 diabetes risk. In the Norfolk Island cohort increased direct bilirubin was\nassociated with a 28 % reduction in type-2 diabetes risk (OR: 0.72, 95 % CI: 0.57-0.91, P = 0.005). When adjusted for\ngenotypic effects the overall model was validated, with the adjusted model predicting a 30 % reduction in type-2\ndiabetes risk with increasing direct bilirubin concentrations (OR: 0.70, 95 % CI: 0.53-0.89, P = 0.0001).\nConclusions: In summary, a pedigree-based GWAS of blood-based clinical traits in the Norfolk Island population\nhas identified variants within the UDPGT family directly associated with serum bilirubin levels, which is in turn\nimplicated with reduced risk of developing type-2 diabetes within this population....
Vespa mandarinia found in the forests of East Asia, including Korea, occupies the highest rank in the arthropod food web within\nits geographical range. It serves as a source of nutrition in the form of Vespa amino acid mixture and is listed as a threatened\nspecies, although no conservation measures have been implemented. Here, we performed de novo assembly of the V. mandarinia\ntranscriptome by Illumina HiSeq 4000 sequencing. Over 60 million raw reads and 59,184,811 clean reads were obtained. After\nassembly, a total of 66,837 unigenes were clustered, 40,887, 44,455, and 22,390 of which showed homologous matches against the\nPANM, Unigene, and KOG databases, respectively. A total of 15,675 unigenes were assigned to Gene Ontology terms, and 5,132\nunigenes were mapped to 115 KEGG pathways.The zinc finger domain (C2H2-like), serine/threonine/dual specificity protein kinase\ndomain, and RNA recognition motif domain were among the top InterProScan domains predicted for V. mandarinia sequences.\nAmong the unigenes, we identified 534,922 cDNA simple sequence repeats as potential markers. This is the first transcriptomic\nanalysis of the wasp V. mandarinia using Illumina HiSeq 4000.The obtained datasets should promote the search for new genes to\nunderstand the physiological attributes of this wasp....
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