background: warfarin is a common anticoagulant drug that has a narrow therapeutic index; higher dose causes excessive bleeding and lower dose leads to cerebrovascular clotting and stroke in patients. genetic factors that have been associated with warfarin response are the genes of cytochrome p450 2c9 (cyp2c9), which metabolize the more active s-enantiomer of warfarin, and vitamin k epoxide redu...

BACKGROUND The influence of immune response gene variations on the development of chronic complications of Q fever is presently unclear. AIM To compare the frequencies of allelic polymorphisms in immune response genes in different Q fever patient groups. DESIGN Genetic association study. METHODS We measured the frequencies of immune response gene variants in: (i) an expanded group of 31 p...

BACKGROUND Some recent experimental data suggest a possible role of LINGO-1 in the pathogenesis of multiple sclerosis (MS). In an attempt to identify genetic biomarkers related to MS susceptibility, we genotyped two common SNPs in the LINGO1 gene which have been associated to other neurological conditions, in patients with MS and in healthy subjects. These SNPs are linked to several SNPs within...

Renal oncocytoma is considered to be a benign tumor that shares some phenotypic features with chromophobe renal cell carcinoma (RCC). Recently, we described high frequencies of allelic loss at 1p, 2p, 6p, 10p, 13q, 14q, 17p, and 21q, which correlate significantly with the chromophobe subtype of RCC. To investigate the genetic relationship between these two entities, we examined 12 oncocytomas f...

This software repository provides a pipeline for converting raw ClinVar data files into analysis-friendly tab-delimited tables, and also provides these tables for the most recent ClinVar release. Separate tables are generated for genome builds GRCh37 and GRCh38 as well as for mono-allelic variants and complex multi-allelic variants. Additionally, the tables are augmented with allele frequencies...

Cytochrome P450 2C19 (CYP2C19) plays an important role in the metabolism and elimination of a wide range of medications. The polymorphisms of this enzyme give rise to substantial inter-individual and inter-ethnic variability in drug excretion rates and final serum concentrations. For this reason, therapeutic re-sponses and adverse drug reactions may vary from one person to another. In this stud...

Genetic variation is usually estimated empirically from statistics based on population gene frequencies, but alternative statistics based on allelic diversity (number of allelic types) can provide complementary information. There is a lack of knowledge, however, on the evolutionary implications attached to allelic-diversity measures, particularly in structured populations. In this article we si...

Most SNPs in the human genome are bi-allelic, however there are some sites that are tri-allelic. We show here that there are approximately twice as many tri-allelic sites as we would expect by chance. This excess does not appear to be caused by natural selection or mutational hotspots. Instead we propose that a new mutation can induce another mutation either within the same individual, or subse...

The interindividual variability of Proton Pump Inhibitor (PPI) therapy results from the phenotype associated with cytochrome P450 2C19 (CYP2C19) gene, namely CYP2C19*17 allele. Our aim was to characterize patients’ genetic undergoing PPI therapy. A sample 33 oral mucosa cells Portuguese pharmacy patients collected, followed by genotyping. allelic frequencies CYP2C19*1 (-806C) and (-806T) were 7...

CCR5, a chemokine receptor, is the principal coreceptor for macrophage-tropic HIV-1 which is the most important variant for viral transmission. It has been demonstrated that a homozygous genotype of a 32-bp deletion in CCR5 gene (delta32CCR5) shows a high degree of resistance to HIV-1 infection. To demonstrate that delta32CCR5 does exist in Thai natives, the CCR5 genotypes and allelic frequenci...