A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.

UDP-glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4) is an important metabolizing enzyme involved in the clearance of many xenobiotics and endogenous substrates, especially steroid hormones and bile acids. The HapMap data show that numerous SNPs upstream of UGT2B4 are in near-perfect linkage disequilibrium with each other and occur at intermediate frequency, indicating that this region might contain a target of natural selection. To investigate this possibility, we chose three regions (4.

Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR.

Differential allelic expression (DAE) is a powerful tool to identify cis-regulatory elements for gene expression. The UDP-glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In the present study, we measured the relative expression of two alleles at SNP c.

Racial differences in eligibility and enrollment in a smoking cessation clinical trial.

Objective: The purpose of this study was to compare the recruitment, eligibility screening, and enrollment of African American and White smokers into an intensive smoking cessation intervention trial [The Chicago STOP Smoking Trial (C-STOP)].

Methods: We compared demographic, smoking, substance use, and medical/psychiatric screening data from the recruitment records of 1,189 non-Hispanic, African American and White smokers screened for eligibility in the last year of a randomized pharmacological and behavioral smoking cessation trial. The study took place at a large urban medical center and two satellite locations within the Chicago metropolitan area.

Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations.

The mechanistic target of rapamycin (MTOR) pathway regulates cell growth, energy homeostasis, apoptosis, and immune response. The regulatory associated protein of MTOR encoded by the RPTOR gene is a key component of this pathway. A previous survey of candidate genes found that RPTOR contains multiple SNPs with strong correlations between allele frequencies and climate variables, consistent with the action of selective pressures that vary across environments.

Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15.

Allelic imbalance (AI) is a powerful tool to identify cis-regulatory variation for gene expression. UGT2B15 is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In this study, we measured the relative expression of two alleles at this gene by using SNP rs1902023:G>T.

Adaptive variation regulates the expression of the human SGK1 gene in response to stress.

The Serum and Glucocorticoid-regulated Kinase1 (SGK1) gene is a target of the glucocorticoid receptor (GR) and is central to the stress response in many human tissues. Because environmental stress varies across habitats, we hypothesized that natural selection shaped the geographic distribution of genetic variants regulating the level of SGK1 expression following GR activation. By combining population genetics and molecular biology methods, we identified a variant (rs9493857) with marked allele frequency differences between populations of African and European ancestry and with a strong correlation between allele frequency and latitude in worldwide population samples.

Characterization of a novel splicing variant in the RAPTOR gene.

The mammalian target of rapamycin (mTOR) plays an essential role in the regulation of cell growth, proliferation and apoptosis. Raptor, the regulatory associated protein of mTOR, is an important member in this signaling pathway. In the present report,we identified and characterized a novel splicing variant of this gene, RAPTOR v2, in which exons 14-17, 474 bp in total, are omitted from the mRNA.