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To establish the impact of the identified RXRG variants on metabolic parameters, we evaluated the clinical characteristics of the FCHL probands and of all FCHL affected subjects stratified by allele carrier status for each SNP.
In this study we have investigated the possible role of the RXRG gene in the genetic susceptibility to FCHL.
We observed a significant association between one of the SNPs in the RXRG gene and FCHL, specifically SNP rs283696, and an increased frequency of s2651860 and rs10918169 SNP in FCHL subjects.
We also looked at the possible impact of the identified RXRG variants on metabolic parameters, evaluating the clinical characteristics of the FCHL probands and of all FCHL affected subjects stratified by allele carrier status for each SNP.
Any of the sequence variants identified and tested in our study alter the coding sequence of RXRG gene.
A previous study in Japanese subjects reported significant associationbetweenaSNP (Gly14Ser in exon 1) in RXRG gene and FCHL .
It may be observed that the significant association between RXRG haplotypes and FCHL risk might be biased by the inclusion of related individuals.
The RXRG is one of the members of the steroid/thyroid hormone superfamily of nuclear receptors that as transcription factors plays unique modulatory and integrative roles across multiple metabolic systems.
RXRG is expressed mostly in brain, muscle, skin, intestine, lung, and adipose tissue .
RXRG heterodimerizes with the farnesol X receptor (FXR) [or bile acid receptor (BAR)], the liver X receptors (LXRs), and the peroxisome proliferator-activated receptors (PPARs).
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