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Receptor Genotypes (receptor + genotype)
Selected AbstractsThe Association Between Heel Ultrasound and Hormone Replacement Therapy Is Modulated by a Two-Locus Vitamin D and Estrogen Receptor GenotypeJOURNAL OF BONE AND MINERAL RESEARCH, Issue 6 2000Yves Gigučre Abstract Evidence supports the role of estrogen deprivation in the process of bone remodeling and increased risk of fracture in postmenopausal women but little is known about the genetic basis of individual differences in response to therapy. In a cross-sectional study, 425 ambulatory postmenopausal French-Canadian women from Quebec (age range, 42,85 years old) were genotyped for a common Bsm I polymorphism at the vitamin D receptor (VDR) gene as well as a Pvu II polymorphism in the estrogen receptor (ESR1) gene. Heel ultrasound was determined by right calcaneal quantitative ultrasound (QUS) and results were expressed as an age- and-weight-adjusted stiffness index (heel SI z score). Our aim was to investigate the interaction between hormone-replacement therapy (HRT) and receptor genotypes in an effect on heel SI. Notably, a two-locus genotype (VDR-bb/ESR-PP) present in 9.5% of women was responsible for over 30% of the total HRT-related heel SI difference in the whole sample. Women bearing this combined VDR/ESR1 genotype who received HRT for more than 5 years had a 21% (1.25 SD) greater heel SI (p = 0.002) than those bearing the same genotype but who received HRT for <5 years. This may translate into a 2- to 3-fold difference in the risk of fracture. Although follow-up studies are needed, our findings suggest that QUS of the heel in postmenopausal women taking HRT is affected by variation in VDR and ESR1 loci, jointly. [source] SEXUAL CONFLICT AND PROTEIN POLYMORPHISMEVOLUTION, Issue 7 2004Ralph Haygood Abstract Sexual conflict, where male and female reproductive interests differ, is probably widespread and often mediated by male or sperm proteins and female or egg proteins that bind to each other during mating or fertilization. One potential consequence is maintenance of polymorphism in these proteins, which might result in reproductive isolation between sympatric subpopulations. I investigate the conditions for polymorphism maintenance in a series of mathematical models of sexual conflict over mating or fertilization frequency. The models represent a male or sperm ligand and a female or egg receptor, and they differ in whether expression of either protein is haploid or diploid. For diploid expression, the conditions imply that patterns of dominance, which involve neither overdominance nor un-derdominance, can determine whether polymorphism is maintained. For example, suppose ligand expression is diploid, and consider ligand alleles L1 and L2 in interactions with a given receptor genotype; if L1/L1 males are fitter than L2/L2 males in these interactions, then polymorphism is more likely to be maintained when L1/L2 males more closely resemble L1/L1 males in these interactions. Such fitter-allele dominance might be typical of a ligand or its receptor due to their biochemistry, in which case polymorphism might be typical of the pair. [source] Neurocognitive variation in smoking behavior and withdrawal: genetic and affective moderatorsGENES, BRAIN AND BEHAVIOR, Issue 1 2009D. E. Evans A burgeoning literature suggests that attentional factors are associated with smoking behavior (e.g. direct nicotine effects and smoking withdrawal). This study examined differences in attentional processing between nonsmokers, satiated smokers and overnight nicotine-deprived smokers by comparing the amplitude of the P300 (P3) component of the event-related brain potential (ERP) elicited during a go,nogo task. We also examined the moderating effects of a common dopamine receptor genotype and state negative affect (SNA) on this ERP index of attention. Nonsmokers relative to smokers had greater nogo P3 amplitude. Carrying the A1 allele at the dopamine receptor D2 (DRD2) Taq1A polymorphism site moderated the effects of withdrawal on nogo P3 amplitude, suggesting the A1 allele is a vulnerability marker for withdrawal-related attentional deficits. Increased SNA also predicted attenuated P3 amplitude among deprived smokers. These findings suggest that DRD2 status and SNA moderate the effects of smoking status and withdrawal on neurocognitive variation during attentional processing. This research contributes to a better understanding of the role of individual differences and attentional processing in smoking behavior. [source] Pharmacogenetics of antidepressants: serotonin 2A receptor genotype strongly associated with treatment outcomeCLINICAL GENETICS, Issue 1 2006MLE MacDonald No abstract is available for this article. [source] Association of vitamin D receptor genotypes with early onset rheumatoid arthritisINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 1 2001J. R. Garcia-Lozano The presence of certain vitamin D receptor (VDR) genotypes has been associated with low bone mineral density (BMD) in elderly populations as well as with accelerated bone loss in patients with rheumatoid arthritis (RA). In the present study, VDR genotypes from 120 Spanish patients with RA were investigated. Three VDR gene polymorphisms (BsmI, ApaI and TaqI) were investigated using polymerase chain reaction followed by enzymatic digestion. The distributions of VDR allelic frequencies were similar in patients and controls and therefore no influence of VDR polymorphisms on rheumatoid arthritis susceptibility could be demonstrated. However, in an analysis of the clinical features of the different VDR-related genetic subgroups, the BB/tt genotype, defined by the BsmI and TaqI restriction site polymorphisms, was identified to be weakly associated with an early onset RA in female patients. This VDR genotype has been associated with a low BMD level in various studies. When patients were stratified according to the presence of the shared HLA epitope SE, it was found that SE + female patients bearing the BB/tt genotype showed the earliest disease onset. The mechanisms by which the VDR polymorphism is associated with RA is unknown, but they could be related to the immunoregulatory properties of vitamin D. [source] Plasma leptin levels in pigs with different leptin and leptin receptor genotypesJOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 4 2008M. Amills Summary A C3469T mutation at exon 3 of the pig leptin (Lep) gene has been genotyped in diverse pig breeds yielding controversial results with regard to its association with growth, fatness and carcass traits. A similar situation has been reported for a HpaII restriction fragment length polymorphism (RFLP) in the pig leptin receptor (Lepr) gene, where associations were found depending on the statistical model employed. The main objective of our work was to investigate if leptin plasma concentrations differ in pigs with different C3469T and Lepr HpaII RFLP genotypes. With this aim, we have measured plasma leptin levels at 160 days in 68 Landrace pigs with different Lep C3469T and Lepr HpaII RFLP genotypes. Neither Lep (TT: 11.68 ng/ml, TC: 10.71 ng/ml) nor Lepr (AA: 12.6 ng/ml, AB: 10.93 ng/ml, BB: 11.74 ng/ml) genotypes influenced significantly plasma Lep concentration. Moreover, we did not find any association between Lep and Lepr genotypes and phenotypic variation at growth and fatness traits in a commercial population of 320 Landrace pigs. [source] The Association Between Heel Ultrasound and Hormone Replacement Therapy Is Modulated by a Two-Locus Vitamin D and Estrogen Receptor GenotypeJOURNAL OF BONE AND MINERAL RESEARCH, Issue 6 2000Yves Gigučre Abstract Evidence supports the role of estrogen deprivation in the process of bone remodeling and increased risk of fracture in postmenopausal women but little is known about the genetic basis of individual differences in response to therapy. In a cross-sectional study, 425 ambulatory postmenopausal French-Canadian women from Quebec (age range, 42,85 years old) were genotyped for a common Bsm I polymorphism at the vitamin D receptor (VDR) gene as well as a Pvu II polymorphism in the estrogen receptor (ESR1) gene. Heel ultrasound was determined by right calcaneal quantitative ultrasound (QUS) and results were expressed as an age- and-weight-adjusted stiffness index (heel SI z score). Our aim was to investigate the interaction between hormone-replacement therapy (HRT) and receptor genotypes in an effect on heel SI. Notably, a two-locus genotype (VDR-bb/ESR-PP) present in 9.5% of women was responsible for over 30% of the total HRT-related heel SI difference in the whole sample. Women bearing this combined VDR/ESR1 genotype who received HRT for more than 5 years had a 21% (1.25 SD) greater heel SI (p = 0.002) than those bearing the same genotype but who received HRT for <5 years. This may translate into a 2- to 3-fold difference in the risk of fracture. Although follow-up studies are needed, our findings suggest that QUS of the heel in postmenopausal women taking HRT is affected by variation in VDR and ESR1 loci, jointly. [source] Associations of ,2-adrenergic receptor genotypes and haplotypes with wheezing illness in Taiwanese schoolchildrenALLERGY, Issue 10 2009Y.-L. Lee Background:, Increasing attention was focused on the ,2-adrenergic receptor gene (ADRB2), whose genetic variability has been implicated as a risk factor for asthma-related phenotypes. However, only a few studies reported the associations by utilizing haplotypic approaches. We therefore examined the relationship of childhood wheezing illness with polymorphisms at codons 16 and 27, and evaluated the influence of polymorphisms individually and in combination as haplotypes. Methods:, We conducted a genetic case,control study comprising 215 wheezing children and 183 nonwheezing controls, all of whom were selected from 2524 fourth- to ninth-grade schoolchildren in southern Taiwan. Results:, All participants were homozygous at the ADRB2 Thr164 locus. After controlling for possible confounders, ADRB2 Glu27 allele was significantly associated with wheezing illness in all genetic models, but the risks on Arg16Gly genotypes were inconclusive. Estimated frequencies for the three main hyplotypes were Arg16/Gln27 57.2%, Gly16/Gln27 35.3%, Gly16/Glu27 7.4% in wheezing children, and Arg16/Gln27 56.3%, Gly16/Gln27 32.2%, Gly16/Glu27 10.4% in controls. The protective effect of Gly16/Glu27 haplotype remained relative to all other ADRB2 haplotypes [adjusted relative risk (aRR) = 0.58; 95% confidence interval (CI) 0.35,0.97]. As compared with children without Gly16/Glu27 haplotype, those with Gly16/Glu27 haplotype had a significantly lower risk for wheezing illness (aRR = 0.56; 95% CI 0.33,0.99). The copy numbers of Gly16/Glu27 haplotype also showed a clear dose-response relationship on the decreased risks. No significant association was found with the prevalence of wheezing illness for other haplotypes. Conclusion:, We concluded that ADRB2 Glu27 allele and Gly16/Glu27 haplotype were significantly protective factors for wheezing illness in Taiwanese schoolchildren. [source] | |||||||||||||