Admixture and the organization of genetic diversity in a butterfly species complex revealed through common and rare genetic variants

2014 ◽  
Vol 23 (18) ◽  
pp. 4555-4573 ◽  
Author(s):  
Zachariah Gompert ◽  
Lauren K. Lucas ◽  
C. Alex Buerkle ◽  
Matthew L. Forister ◽  
James A. Fordyce ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Genetic Variants ◽  
Species Complex ◽  
Butterfly Species ◽  
Rare Genetic Variants

scholarly journals Genetic Diversity of Insulin Resistance and Metabolic Syndrome

2020 ◽  
Author(s):  
Sanghoo Lee ◽  
Jinwoo Ahn ◽  
Jimyeong Park ◽  
Hyeonkyun Na ◽  
Youngkee Lee ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Genetic Diversity ◽  
Metabolic Syndrome ◽  
Genetic Variants ◽  
Association Studies ◽  
Public Health Problem ◽  
Genome Wide Association Studies ◽  
Global Public Health ◽  
Genome Wide ◽  
Rare Genetic Variants

A key in the etiology of a cluster of metabolic syndrome such as hyperglycemia, dyslipidemia, and obesity is known for insulin resistance, which is becoming a major global public health problem. Extensive studies have revealed many genetic factors for both insulin resistance and the components of metabolic syndrome. Advanced modern genotyping methods including genome-wide association studies and next-generation sequencing have allowed for the identification of both common and rare genetic variants related to these chronic disease-associated traits. Multiple genotype–phenotype studies are also needed to identify new and accurate genetic biomarkers in these conditions. The purpose of this chapter is to present genetic variants related to the pathogenesis of metabolic syndrome and insulin resistance and is to review the relevance between insulin resistance and metabolic syndrome clusters in terms of genetic diversity.

scholarly journals Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Muhammad Aslam ◽  
Nirosiya Kandasamy ◽  
Anwar Ullah ◽  
Nagarajan Paramasivam ◽  
Mehmet Ali Öztürk ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Variants ◽  
Rare Variants ◽  
Alpha Synuclein ◽  
Younger Age ◽  
Targeted Treatments ◽  
Genes Encoding ◽  
Rare Genetic Variants

AbstractRare variants in the beta-glucocerebrosidase gene (GBA1) are common genetic risk factors for alpha synucleinopathy, which often manifests clinically as GBA-associated Parkinson’s disease (GBA-PD). Clinically, GBA-PD closely mimics idiopathic PD, but it may present at a younger age and often aggregates in families. Most carriers of GBA variants are, however, asymptomatic. Moreover, symptomatic PD patients without GBA variant have been reported in families with seemingly GBA-PD. These observations obscure the link between GBA variants and PD pathogenesis and point towards a role for unidentified additional genetic and/or environmental risk factors or second hits in GBA-PD. In this study, we explored whether rare genetic variants may be additional risk factors for PD in two families segregating the PD-associated GBA1 variants c.115+1G>A (ClinVar ID: 93445) and p.L444P (ClinVar ID: 4288). Our analysis identified rare genetic variants of the HSP70 co-chaperone DnaJ homolog subfamily B member 6 (DNAJB6) and lysosomal protein prosaposin (PSAP) as additional factors possibly influencing PD risk in the two families. In comparison to the wild-type proteins, variant DNAJB6 and PSAP proteins show altered functions in the context of cellular alpha-synuclein homeostasis when expressed in reporter cells. Furthermore, the segregation pattern of the rare variants in the genes encoding DNAJB6 and PSAP indicated a possible association with PD in the respective families. The occurrence of second hits or additional PD cosegregating rare variants has important implications for genetic counseling in PD families with GBA1 variant carriers and for the selection of PD patients for GBA targeted treatments.

Contribution of rare genetic variants to drug response in absence epilepsy

2021 ◽  
Vol 170 ◽  
pp. 106537
Author(s):  
Kenneth A. Myers ◽  
Mark F. Bennett ◽  
Bronwyn E. Grinton ◽  
Gabriel Dabscheck ◽  
Eunice K. Chan ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Drug Response ◽  
Absence Epilepsy ◽  
Rare Genetic Variants

Sex‐linked genetic diversity and differentiation in a globally distributed avian species complex

2021 ◽  
Author(s):  
Drew R. Schield ◽  
Elizabeth S.C. Scordato ◽  
Chris C.R. Smith ◽  
Javan K. Carter ◽  
Sidi Imad Cherkaoui ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Species Complex ◽  
Avian Species ◽  
Globally Distributed

scholarly journals A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

2019 ◽  
Vol 22 (1) ◽  
pp. 102-111 ◽  
Author(s):  
Joseph Park ◽  
◽  
Michael G. Levin ◽  
Christopher M. Haggerty ◽  
Dustin N. Hartzel ◽  
...  
Keyword(s):  
Electronic Health Record ◽  
Genetic Variants ◽  
Health Record ◽  
A Genome ◽  
Rare Genetic Variants ◽  
Electronic Health

scholarly journals Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing

2015 ◽  
Vol 13 (S1) ◽  
Author(s):  
E Sanchez ◽  
S Grandemange ◽  
F Tran Mau-Them ◽  
P Louis-Plence ◽  
A Carbasse ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Variants ◽  
Whole Exome ◽  
Rare Genetic Variants

scholarly journals Molecular Characterization of Pathogenicity Locus (PaLoc) and tcdC Genetic Diversity Among tcdA+B+ Clostridioides Difficile Clinical Isolates in Tehran, Iran

2020 ◽  
Author(s):  
Mansoor Kodori ◽  
Zohreh Ghalavand ◽  
Abbas Yadegar ◽  
Gita Eslami ◽  
Masoumeh Azimirad ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Molecular Characterization ◽  
Disease Severity ◽  
Genetic Variants ◽  
Rflp Analysis ◽  
Clostridioides Difficile ◽  
Pcr Rflp ◽  
The Common ◽  
Healthcare Associated

Abstract Background: Clostridioides difficile is the main cause of healthcare-associated diarrhea worldwide. It is proposed that certain C. difficile toxinotypes with distinct pathogenicity locus (PaLoc) variants are associated with disease severity and outcomes. Additionally, few studies have described the common C. difficile toxinotypes, and also little is known about the tcdC variants in Iranian isolates. We characterized the toxinotypes and the tcdC genotypes from a collection of Iranian clinical C. difficile tcdA+B+ isolates with known ribotypes (RTs).Methods: Fifty C. difficile isolates with known RTs and carrying the tcdA and tcdB toxin genes were analyzed. Toxinotyping was carried out based on a PCR-RFLP analysis of a 19.6 kb region encompassing the PaLoc. Genetic diversity of the tcdC gene was determined by the sequencing of the gene.Results: Of the 50 C. difficile isolates investigated, five distinct toxinotypes were recognized. Toxinotypes 0 (33/50, 66%) and V (11/50, 22%) were the most frequently found. C. difficile isolates of the toxinotype 0 mostly belonged to RT 001 (12/33, 36.4%), whereas toxinotype V consisted of RT 126 (9/11, 81.8%). The tcdC sequencing showed six variants (35/50, 70%); tcdC-sc3 (24%), tcdC-A (22%), tcdC-sc9 (18%), tcdC-B (2%), tcdC-sc14 (2%), and tcdC-sc15 (2%). The remaining isolates were wild-types (15/50, 30%) in the tcdC gene.Conclusions: The present study demonstrates that the majority of clinical tcdA+B+ isolates of C. difficile frequently harbor tcdC genetic variants. We also found that the RT 001/ toxinotype 0 and the RT 126/ toxinotype V are the most common types among Iranian isolates. Further studies are needed to investigate the putative association of various tcdC genotypes with CDI severity and its recurrence.

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