scholarly journals Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

2017 ◽  
Vol 20 (5) ◽  
pp. 480-485 ◽  
Author(s):  
Diane Van Opstal ◽  
◽  
Merel C van Maarle ◽  
Klaske Lichtenbelt ◽  
Marjan M Weiss ◽  
...  
Keyword(s):  
Chromosomal Aberrations ◽  
Clinical Relevance ◽  
Genome Wide ◽  
The Common

Migraine: Genetic Variants and Clinical Phenotypes

2019 ◽  
Vol 26 (34) ◽  
pp. 6207-6221 ◽  
Author(s):  
Innocenzo Rainero ◽  
Alessandro Vacca ◽  
Flora Govone ◽  
Annalisa Gai ◽  
Lorenzo Pinessi ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Association Studies ◽  
Mthfr Gene ◽  
Genome Wide Association Studies ◽  
Clinical Phenotypes ◽  
Network Analyses ◽  
Genome Wide ◽  
Genomic Studies ◽  
The Common ◽  
The Relationship

Migraine is a common, chronic neurovascular disorder caused by a complex interaction between genetic and environmental risk factors. In the last two decades, molecular genetics of migraine have been intensively investigated. In a few cases, migraine is transmitted as a monogenic disorder, and the disease phenotype cosegregates with mutations in different genes like CACNA1A, ATP1A2, SCN1A, KCNK18, and NOTCH3. In the common forms of migraine, candidate genes as well as genome-wide association studies have shown that a large number of genetic variants may increase the risk of developing migraine. At present, few studies investigated the genotype-phenotype correlation in patients with migraine. The purpose of this review was to discuss recent studies investigating the relationship between different genetic variants and the clinical characteristics of migraine. Analysis of genotype-phenotype correlations in migraineurs is complicated by several confounding factors and, to date, only polymorphisms of the MTHFR gene have been shown to have an effect on migraine phenotype. Additional genomic studies and network analyses are needed to clarify the complex pathways underlying migraine and its clinical phenotypes.

scholarly journals Genetic factors influencing a neurobiological substrate for psychiatric disorders

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Till F. M. Andlauer ◽  
Thomas W. Mühleisen ◽  
Felix Hoffstaedter ◽  
Alexander Teumer ◽  
Katharina Wittfeld ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Genetic Risk ◽  
Meta Analysis ◽  
Anterior Cingulate ◽  
Psychiatric Disease ◽  
Salience Network ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Common Substrate ◽  
The Common

AbstractA retrospective meta-analysis of magnetic resonance imaging voxel-based morphometry studies proposed that reduced gray matter volumes in the dorsal anterior cingulate and the left and right anterior insular cortex—areas that constitute hub nodes of the salience network—represent a common substrate for major psychiatric disorders. Here, we investigated the hypothesis that the common substrate serves as an intermediate phenotype to detect genetic risk variants relevant for psychiatric disease. To this end, after a data reduction step, we conducted genome-wide association studies of a combined common substrate measure in four population-based cohorts (n = 2271), followed by meta-analysis and replication in a fifth cohort (n = 865). After correction for covariates, the heritability of the common substrate was estimated at 0.50 (standard error 0.18). The top single-nucleotide polymorphism (SNP) rs17076061 was associated with the common substrate at genome-wide significance and replicated, explaining 1.2% of the common substrate variance. This SNP mapped to a locus on chromosome 5q35.2 harboring genes involved in neuronal development and regeneration. In follow-up analyses, rs17076061 was not robustly associated with psychiatric disease, and no overlap was found between the broader genetic architecture of the common substrate and genetic risk for major depressive disorder, bipolar disorder, or schizophrenia. In conclusion, our study identified that common genetic variation indeed influences the common substrate, but that these variants do not directly translate to increased disease risk. Future studies should investigate gene-by-environment interactions and employ functional imaging to understand how salience network structure translates to psychiatric disorder risk.

Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array

2014 ◽  
Vol 22 (S3) ◽  
pp. 1419-1427 ◽  
Author(s):  
Pei-Ching Lin ◽  
Jen-Kou Lin ◽  
Chien-Hsing Lin ◽  
Hung-Hsin Lin ◽  
Shung-Haur Yang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Methylation ◽  
High Resolution ◽  
Cancer Patients ◽  
Clinical Relevance ◽  
Plasma Dna ◽  
Genome Wide ◽  
A Genome ◽  
Colorectal Cancer Patients

Prenatal diagnosis of chromosomal aberrations in fetuses with conotruncal heart defects by genome-wide high-resolution SNP array

2018 ◽  
Vol 33 (7) ◽  
pp. 1211-1217 ◽  
Author(s):  
Meifang Lin ◽  
Ju Zheng ◽  
Ruan Peng ◽  
Liu Du ◽  
Qiao Zheng ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Resolution ◽  
Chromosomal Aberrations ◽  
Heart Defects ◽  
Snp Array ◽  
Conotruncal Heart Defects ◽  
Genome Wide

Genome-wide association analysis reveals the common genetic locus for both the typical and atypical polycerate phenotype in Tibetan sheep

2018 ◽  
Vol 49 (2) ◽  
pp. 142-143
Author(s):  
Xiaohong He ◽  
Shen Song ◽  
Xiaofei Chen ◽  
Tianzeng Song ◽  
Tenzin Lobsang ◽  
...  
Keyword(s):  
Association Analysis ◽  
Genetic Locus ◽  
Genome Wide Association ◽  
Genome Wide Association Analysis ◽  
Genome Wide ◽  
Tibetan Sheep ◽  
The Common

The Genetics of Uveal Melanoma: Overview and Clinical Relevance

2021 ◽  
Vol 238 (07) ◽  
pp. 773-780
Author(s):  
Aline Isabel Riechardt ◽  
Emine Kilic ◽  
Antonia M. Joussen
Keyword(s):  
Genetic Counselling ◽  
Uveal Melanoma ◽  
Chromosomal Aberrations ◽  
Clinical Relevance ◽  
Genetic Evolution ◽  
Genetic Characteristics ◽  
Mutational Burden ◽  
Genetic Subtype ◽  
Monosomy 3 ◽  
Work Up

AbstractOver the last ten years, much has been learnt about the genetic characteristics and genetic evolution of uveal melanoma. It has been shown that uveal melanoma differs fundamentally from non-uveal melanoma and is an independent genetic subtype. Compared to other tumours, uveal melanoma has a low mutational burden. There are recurring chromosomal aberrations with losses of 1p, 6q, 8p and 16q, gains of 6p and 8q, and the presence of monosomy 3. GNAQ, GNA11, PLCB4, CYSLTR2, MAPKAPK5, as well as mutations in BAP1, SF3B1, SRSF2 and EIF1AX, the latter being linked to a higher risk of metastasis, have been identified as significantly mutated genes. In rare cases, a BAP1 germline mutation may also be present. In addition to higher risk of uveal melanoma, this variant is also linked with other tumours. In this case, additional work-up, genetic counselling and screening of family members should be offered. While the knowledge about the genetic characteristics of uveal melanoma is already routinely used for diagnostic and prognostic purposes, targeted genotype-dependent therapy of uveal melanoma is currently still missing.

Genome-wide identification of MITE-derived microRNAs and their targets in bread wheat

2021 ◽  
Author(s):  
Juan Manuel Crescente ◽  
Diego Zavallo ◽  
Mariana del Vas ◽  
Sebastian Asurmendi ◽  
Marcelo Helguera ◽  
...  
Keyword(s):  
Gene Expression ◽  
Triticum Aestivum ◽  
Transposable Elements ◽  
Small Rna ◽  
Translational Repression ◽  
High Homology ◽  
Genome Wide ◽  
Target Sites ◽  
The Common ◽  
Non Coding Rnas

Abstract Plant microRNAs (miRNAs) are a class of small non-coding RNAs that are 20–24 nucleotides length and can repress gene expression at post-transcriptional levels by target degradation or translational repression. There is increasing evidence that some microRNAs can be derived from a group of non-autonomous class II transposable elements called Miniature Inverted-repeat Transposable Elements (MITEs) in plants. We used public small RNA, degradome libraries and the common wheat (Triticum aestivum) genome to screen miRNAs production and target sites. We also created a comprehensive wheat MITE database using known and identifying novel elements. We found high homology between MITEs and 14% of all the miRNAs production sites in wheat. Furthermore, we show that MITE-derived miRNAs have preference for target degradation sites with MITE insertions in 3' UTR regions in wheat.

scholarly journals Evaluation of the Common Molecular Basis in Alzheimer’s and Parkinson’s Diseases

2019 ◽  
Vol 20 (15) ◽  
pp. 3730 ◽  
Author(s):  
Pratip Rana ◽  
Edian F. Franco ◽  
Yug Rao ◽  
Khajamoinuddin Syed ◽  
Debmalya Barh ◽  
...  
Keyword(s):  
Network Analysis ◽  
Literature Mining ◽  
Extensive Literature ◽  
Genome Wide ◽  
Parkinson’S Diseases ◽  
Epigenetic Regulator ◽  
Major Genome ◽  
The Common ◽  
Exact Relationship ◽  
Subsequent Literature

Alzheimer’s disease (AD) and Parkinson’s disease (PD) are the most common neurodegenerative disorders related to aging. Though several risk factors are shared between these two diseases, the exact relationship between them is still unknown. In this paper, we analyzed how these two diseases relate to each other from the genomic, epigenomic, and transcriptomic viewpoints. Using an extensive literature mining, we first accumulated the list of genes from major genome-wide association (GWAS) studies. Based on these GWAS studies, we observed that only one gene (HLA-DRB5) was shared between AD and PD. A subsequent literature search identified a few other genes involved in these two diseases, among which SIRT1 seemed to be the most prominent one. While we listed all the miRNAs that have been previously reported for AD and PD separately, we found only 15 different miRNAs that were reported in both diseases. In order to get better insights, we predicted the gene co-expression network for both AD and PD using network analysis algorithms applied to two GEO datasets. The network analysis revealed six clusters of genes related to AD and four clusters of genes related to PD; however, there was very low functional similarity between these clusters, pointing to insignificant similarity between AD and PD even at the level of affected biological processes. Finally, we postulated the putative epigenetic regulator modules that are common to AD and PD.

Genome-wide association studies of Ca and Mn in the seeds of the common bean (Phaseolus vulgaris L.)

Genomics ◽  
2020 ◽  
Vol 112 (6) ◽  
pp. 4536-4546
Author(s):  
Semih Erdogmus ◽  
Duygu Ates ◽  
Seda Nemli ◽  
Bulent Yagmur ◽  
Tansel Kaygisiz Asciogul ◽  
...  
Keyword(s):  
Phaseolus Vulgaris ◽  
Common Bean ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Phaseolus Vulgaris L ◽  
Genome Wide ◽  
The Common
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