Single nucleotide polymorphism
Previous studies have shown that the PDK2 and ABCG2 genes play important roles in many aspects of gout development in European populations. However, a detailed genotype-phenotype analysis was not performed. The aim of the present study was to investigate the potential association between variants in these two genes and metabolism-related quantitative phenotypes relevant to gout in a Chinese Tibetan population.
The vitamin D receptor (VDR) is involved in the immune response and bone metabolism, both of which are implicated in the pathogenesis of chronic periodontitis (CP). In this study, we investigated the association between the VDR single nucleotide polymorphism rs2228570 and CP susceptibility in a Han Chinese population consisting of 440 moderate or severe CP patients and 324 controls. Genomic DNA was extracted from buccal epithelial cells and genotyped using matrix-assisted laser desorption/ionization time-of-flight-mass spectrometry.
We selected six tagged single nucleotide polymorphisms (SNPs) in the interleukin 17A (IL-17A) and IL-17F genes, and evaluated the relationship between the six common SNPs and environmental factors in cervical cancer patients. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the IL-17A (rs2275913, rs3748067, and rs3819025) and IL-17F (rs763780, rs9382084, and rs1266828) SNPs. The associations between IL-17A and IL-17F gene polymorphisms and risk of cervical cancer were estimated by conditional logistic regression.
NR5A2 has been implicated in processes as diverse as steroidogenesis, cellular proliferation, ovarian follicular development, ovulation, and fertility in mammals. However, data about the relationship between NR5A2 and prolificacy in mammals are lacking. In the present study, we identified and characterized NR5A2 of Hu sheep, and investigated the correlation between NR5A2 and reproductive performance. The full-length coding region was 1488 bp, and the gene was conserved in mammals.
Highly unsaturated fatty acids (HUFAs) are crucial for the nutritional health, physiology, and reproduction of vertebrates. The Δ6-desaturase and Elovl5 elongase genes produce essential enzymes in the biosynthetic pathway of HUFAs. Single nucleotide polymorphism (SNP) analysis of genes functionally related to the growth traits of the common carp (Cyprinus carpio var. Jian) can provide useful information for common carp molecular breeding. In this study, we isolated two Δ6 Fad genes and two Elovl5 genes from the common carp.