Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease that affects diarthrodial joints. RA affects ∼1% of the world’s population and is characterized by synovial hyperplasia, infiltration of large numbers of inflammatory cells into the joints, production of autoantibodies, systemic inflammation, and cardiovascular complications (McInnes and Schett, 2011; Arend and Firestein, 2012).
The association between TP53 gene polymorphisms and breast cancer (BC) in Brazilian women is a controversial topic. In this cross-sectional study, we evaluated the association between clinical pathological variables and three polymorphisms (TP53*11, TP53*72, and TP53*248) in BC patients and controls. Genomic DNA was extracted from the blood cells of 393 participants; the cancer-free control subjects were 26-72 years old (41 ± 11.03) and the BC patients were 28-80 years old (51 ± 10.70).
Diabetic nephropathy is the leading cause of end-stage kidney disease in the world. Many single nucleotide polymorphisms (SNPs) have been associated with diabetic nephropathy. SNPs at the 4.1 protein ezrin, radixin, moesin domain 3 (FRMD3) and cysteinyl t-RNA synthetase (CARS) genes have a well-established relationship with diabetic nephropathy. However, this association has not been evaluated in a Kuwaiti population.
Genetic polymorphisms of very important pharmacogenomic (VIP) variants are important for personalized medicine. However, these have not been extensively studied in the Tibetan population. In this study, 82 VIP variants were detected in the Tibetan and Han (HAN) populations from northwestern China.
Sudden cardiac death (SCD) is a major public health concern worldwide, and genetic analysis may be useful in identifying the cause of death as well as in determining the possible genetic risk factors for SCD. This study analyzed eight SNPs (single nucleotide polymorphisms) highly correlated with cardiac sudden death in samples (blood and bone) from six Brazilian families with a history of cardiovascular diseases. Individuals with no family history of cardiovascular diseases were recruited as controls.
The P-element-induced wimpy testis (Piwi) gene is involved in germline stem cell self-renewal, meiosis, RNA silencing, and transcriptional regulation. Piwi genes are relatively well conserved in many species, but their function in poultry species is unclear. In this study, Piwi genes were sequenced using a target-sequence capture assay in quail and 28 breeds of chicken. Single nucleotide polymorphisms (SNPs) and evolutionary aspects of these chicken breeds were then analyzed.
Meat pH is an important factor influencing meat quality traits in swine. This study evaluated a large number of genetic variants that covered all of the swine chromosomal regions. Approximately 68,000 single nucleotide polymorphisms (SNPs), found on Illumina Porcine SNP chips, were tested for associations with meat pH values. A genome-wide association study (GWAS) found that 19 SNPs on Sus scrofa chromosome 4 were significantly associated with pH.