A principal goal in human genetics is to provide the tools necessary to enable genome-wide association studies. Extensive information on the distribution of gene-based single-nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) patterns across the genome is required in order to choose markers for efficient implementation of this approach. To obtain such information, we have genotyped...

Single nucleotide polymorphisms (SNPs) are among the most common types of genetic variation in complex genetic disorders. A growing number of studies link the functional role of SNPs with the networks and pathways mediated by the disease-associated genes. For example, many non-synonymous missense SNPs (nsSNPs) have been found near or inside the protein-protein interaction (PPI) interfaces. Dete...

OBJECTIVES To investigate the association of a non-synonymous single-nucleotide polymorphism (SNP) in DNASEI with susceptibility to systemic lupus erythematosus (SLE) and the production of autoantibodies to nuclear antigens. METHODS The Gln244Arg (rs1053874) SNP was studied in 276 SLE patients and in 368 healthy controls of Spanish ancestry. Its relationship with SLE susceptibility, serum DNa...

An association between a rare, coding, non-synonymous SNP variant in the gene DZIP1 and Parkinson's disease was found, based on an analysis of the existing NGRC genome-wide association study dataset. The statistical analysis utilized the hypothesis-rich, targeted search unbiased assessment approach, rather than the hypothesis-free, genome-wide agnostic search paradigm. The association of DZIP1 ...

Prostate enlargement leading to clinical benign prostatic hyperplasia (BPH) is associated with metabolic dysregulation and obesity. The genetic basis of this association is unclear. Our objective was to evaluate whether single nucleotide polymorphisms (SNPs) previously associated with metabolic disorders are also associated with prostate volume (PV). Participants included 876 men referred for p...

Genetic variations in the four casein genes CSN1S1 , CSN2 CSN1S2 and CSN3 have obtained substantial attention since they affect milk protein yield, composition, cheese processing properties, digestibility as well tolerance human nutrition. Furthermore, variants are used for breed characterization, biodiversity, phylogenetic studies. The current study aimed at identification of five domestic goa...

Catechol-O-methyltransferase (COMT) is an enzyme that plays a key role in the modulation of catechol-dependent functions such as cognition, cardiovascular function, and pain processing. Three common haplotypes of the human COMT gene, divergent in two synonymous and one nonsynonymous (val(158)met) position, designated as low (LPS), average (APS), and high pain sensitive (HPS), are associated wit...

There is limited genetic information available in most African goat populations. However, improvements genomic technologies have enabled easy and effective analysis of different parameters. This study used Single Nucleotide Polymorphism (SNP) data four genotypes from Kenya; Galla (n = 12), Alpine 28), Saanen 24) Toggenburger 30). After SNP quality control, 48808 SNPs that were for analysis. Run...

Mutational analyses in xenopus oocyte and mice models indicate that the positive effect of nicotine on attention may be modulated by genetic variations within exon 5 of the alpha4 subunit of the nicotinergic acetylcholine receptor gene CHRNA4. The potential relevance of exon 5 is further emphasized by two recent family-based association studies of nicotine dependence because subgroups of nicoti...

The Plasmodium vivax Cell-traversal protein for ookinetes and sporozoites (PvCelTOS) plays an important role in the traversal of host cells. Although essential to PvCelTOS progress as a vaccine candidate, its genetic diversity remains uncharted. Therefore, we investigated the PvCelTOS genetic polymorphism in 119 field isolates from five different regions of Brazilian Amazon (Manaus, Novo Repart...