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Genome-wide association study reveals ethnicity-specific SNPs associated with ankylosing spondylitis in the Taiwanese population
BackgroundAnkylosing spondylitis (AS) is an autoimmune disease affecting mainly spine and sacroiliac joints and adjacent soft tissues. Genome-wide...
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GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts
Osteoporosis is a serious public health problem that affects 200 million people worldwide. Genome-wide association studies have revealed the...
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Polymorphism of Mitochondrial DNA and Six Nuclear Genes in the Amur Evenk Population
AbstractThe polymorphism of six nuclear genes, ACE (I/D, rs1799752), NOS3 (4b/4a, rs61722009), ADRA2B (I/D, rs28365031), MTHFR (С677Т, rs1801133), TCF7L2...
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Polymorphism of the VEGFA Gene and Coronary Artery Disease: Sex Dimorphism in Relationship between the Gene and Disease Predisposition
AbstractPolymorphisms of vascular endothelial growth factor A ( VEGFA ) gene represent attractive markers for genetic studies of coronary artery...
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Revolution in Genetics
The genomics revolution has transformed our understanding of monogenic and complex genetic disorders. In this chapter, we review the basic concepts...
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VDR Gene Polymorphisms and Cluster Headache Susceptibility: Case–Control Study in a Southeastern European Caucasian Population
Cluster headache (CH) is a severe primary headache disorder with a genetic component, as indicated by family and twin studies. Diurnal and seasonal...
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Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
Mendelian randomization is a powerful method for inferring causal relationships. However, obtaining suitable genetic instrumental variables is often...
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SNPInt-GPU: Tool for Epistasis Testing with Multiple Methods and GPU Acceleration
We present SNPInt-GPU, a software providing several methods for statistical epistasis testing. SNPInt-GPU supports GPU acceleration using the Nvidia...
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The genetics of non-monogenic IBD
Inflammatory bowel disease (IBD), with Crohn’s disease and ulcerative colitis as main subtypes, is a prototypical multifactorial disease with both...
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Evidence that the pituitary gland connects type 2 diabetes mellitus and schizophrenia based on large-scale trans-ethnic genetic analyses
BackgroundPrevious studies on European (EUR) samples have obtained inconsistent results regarding the genetic correlation between type 2 diabetes...
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Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population
Host genetic factors have been shown to play a role in SARs-CoV-2 infection in diverse populations. However, the genetic landscape differs among...
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Genetic variation at the Cyp6m2 putative insecticide resistance locus in Anopheles gambiae and Anopheles coluzzii
BackgroundThe emergence of insecticide resistance is a major threat to malaria control programmes in Africa, with many different factors contributing...
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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare...
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Cardinium symbiosis as a potential confounder of mtDNA based phylogeographic inference in Culicoides imicola (Diptera: Ceratopogonidae), a vector of veterinary viruses
BackgroundCulicoides imicola (Diptera: Ceratopogonidae) is an important Afrotropical and Palearctic vector of disease, transmitting viruses of...
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A two-stage genome-wide association study to identify novel genetic loci associated with acute radiotherapy toxicity in nasopharyngeal carcinoma
BackgroundGenetic variants associated with acute side effects of radiotherapy in nasopharyngeal carcinoma (NPC) remain largely unknown.
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Association between autism spectrum disorder and polymorphisms in genes encoding serotine and dopamine receptors
Dysfunctions of the neurotransmitter system are related to the development of many psychological diseases including autism spectrum disorder (ASD)....
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Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis
Genetics plays a role in the development of gestational diabetes mellitus (GDM), which poses serious risks to pregnant women and their children....
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Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin
The co-occurrence of migraine and glycemic traits has long been reported in observational epidemiological studies, but it has remained unknown how...
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Author Correction: Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection
In the version of the paper initially published, information on competing interests for author Benjamin M. Neale was missing. The ‘Competing...
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Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
Mild/juvenile Canavan disease (M/JCD) is less frequently reported in the literature and little is known about its pathogenetic mechanisms. We report...
