“…For example, a polymorphic CA repeat in intron 1 of epidermal growth factor receptor has been associated with altered epidermal growth factor receptor expression in breast cancer (Gebhardt et al, 1999). A repeat polymorphism in the ER gene has been implicated in menopausal and premenstrual symptoms (Takeo et al, 2005) and impaired healing in elderly persons, predisposing to venous ulceration (Ashworth et al, 2005).…”
ABSTRACT:The hypothesis was tested that sequence diversity in pregnane X receptor (PXR) cis-regulatory regions is a significant determinant of variation in inducible and constitutive CYP3A4 expression. A combination of comparative genomics and computational algorithms was used to select regions of the human PXR promoter and intron 1 that were resequenced in the polymorphism discovery resource 24 DNA subset.
“…For example, a polymorphic CA repeat in intron 1 of epidermal growth factor receptor has been associated with altered epidermal growth factor receptor expression in breast cancer (Gebhardt et al, 1999). A repeat polymorphism in the ER gene has been implicated in menopausal and premenstrual symptoms (Takeo et al, 2005) and impaired healing in elderly persons, predisposing to venous ulceration (Ashworth et al, 2005).…”
ABSTRACT:The hypothesis was tested that sequence diversity in pregnane X receptor (PXR) cis-regulatory regions is a significant determinant of variation in inducible and constitutive CYP3A4 expression. A combination of comparative genomics and computational algorithms was used to select regions of the human PXR promoter and intron 1 that were resequenced in the polymorphism discovery resource 24 DNA subset.
“…Studies carried out in our laboratory showed that CA repeat polymorphism of the ERb gene may be associated with menopausal and premenstrual symptoms [14], and that the use of CA repeat polymorphism in addition to symptoms in the selection of drugs for climacteric disorders may allow therapy to be personalized [15]. On the other hand, a relationship between ERb gene polymorphism and RA symptoms has not yet been reported.…”
The influence of the polymorphism of the estrogen receptor-beta gene, cytosine-adenine (CA) dinucleotide repeat in intron 6, in the occurrence of rheumatoid arthritis (RA) was investigated. Forty-seven RA patients and 36 control subjects with osteoarthritis (OA) were recruited. CA repeat polymorphism was examined using denaturing high-performance liquid chromatography (WAVE DNA Fragment Analysis System). The mean number of CA repeats was significantly higher in RA than in OA patients. Two groups were established: or=22 repeats (long L); and 3 kinds of genotypes (SS, SL, LL) were found. In RA patients, the L allele frequency was higher (OR = 2.03; P
“…As for ESR2, Takeo et al 47 found, in a cross-sectional study, a strong relationship between a cytosine-adenine (CA) repeat polymorphism in the ESR2 gene and the risk of menopausal symptoms. The researchers suggested that a short CA repeat in the ESR2 gene results in a less active receptor that may, in turn, decrease androgen production by adrenal glands or the ovaries.…”
Background: Interest in menopausal symptoms in general and hot flushes (HFs) in particular has grown in recent years. This is mostly due to increased awareness and the vast impact these symptoms have on women's lives. Despite the high prevalence of women who experience HFs, a definitive etiology for HFs is yet to be found. Our objective was to review the current literature dealing with associated factors for experiencing HFs and to provide a synthesized overview on this common and often debilitating condition. Methods: We systematically searched the English-language literature in the PubMed database using relevant key words and included only those articles that contained information on associated factors for HFs in generally healthy midlife women. Results: Both conflicting scientific results between studies documenting factors that influence HFs and the lack of validated measuring tools make it difficult to truly pinpoint associated factors for HFs. Nonetheless, we identified the following clusters of associated factors: the menopausal stages, sex steroid hormones, other endocrine agents, genetic polymorphisms, race=ethnicity, body mass index (BMI) and obesity, mood disorders, smoking, soy isoflavones and phytoestrogens, alcohol consumption, and physical activity. Conclusions: No single associated factor was consistently identified as having a major role in experiencing HFs. More resources should be directed to develop a unified study system along with multivariable analyses to get a better understanding of this condition, which often imposes a tremendous social and personal toll on the women who experience it.
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