scholarly journals Single Nucleotide Polymorphisms at a Distance from Aryl Hydrocarbon Receptor (AHR) Binding Sites Influence AHR Ligand–Dependent Gene Expression

2019 ◽  
Vol 47 (9) ◽  
pp. 983-994 ◽  
Author(s):  
Drew R. Neavin ◽  
Jeong-Heon Lee ◽  
Duan Liu ◽  
Zhenqing Ye ◽  
Hu Li ◽  
...  
Keyword(s):  
Gene Expression ◽  
Single Nucleotide Polymorphisms ◽  
Aryl Hydrocarbon Receptor ◽  
Binding Sites ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Aryl Hydrocarbon

scholarly journals Analysis of association of single nucleotide polymorphisms of genes for aryl hydrocarbon receptor signaling pathway with predisposition to uterine fibroids

2020 ◽  
pp. 55-57
Author(s):  
О.Б. Полшведкина ◽  
И.Н. Вдовина ◽  
С.М. Зайцев ◽  
А.А. Клиновская ◽  
Л.А. Пономарева ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Aryl Hydrocarbon Receptor ◽  
Signaling Pathway ◽  
Uterine Fibroids ◽  
Receptor Signaling ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Aryl Hydrocarbon ◽  
Central Russia ◽  
Receptor Signaling Pathway

В исследование были включены 603 пациентки с миомой матки и 398 женщин контрольной группы. Генотипирование однонуклеотидных полиморфизмов (SNP) генов сигнального каскада арил-гидрокарбонового рецептора (rs2066853 AHR, rs2292596 AHRR, rs2228099 ARNT, rs1048943 CYP1A1, rs762551 CYP1A2, rs1056836 CYP1B1, rs1800566 NQO1) было проведено методом ПЦР в режиме реального времени. С развитием миомы матки ассоциировались rs2228099 ARNT (OR=1,58; 95%CI=1,19-2,09) и rs1048943 CYP1A1 (OR=0,59; 95%CI=0,40-0,91). A total of 603 females with uterine fibroids and 398 healthy individuals from Central Russia were recruited for the study. Genotyping of single nucleotide polymorphisms (SNPs) of the aryl hydrocarbon receptor signaling pathway genes (rs2066853 AHR, rs2292596 AHRR, rs2228099 ARNT, rs1048943 CYP1A1, rs762551 CYP1A2, rs1056836 CYP1B1, rs1800566 NQO1) were done using Taq-Man-based assays. Polymorphisms rs2228099 ARNT (OR=1,58; 95%CI=1,19-2,09) and rs1048943 CYP1A1 (OR=0,59; 95%CI=0,40-0,91) were associated with predisposition to uterine fibroids.

scholarly journals The role of 25-hydroxyvitamin-D3 and vitamin D receptor gene in human periodontal ligament fibroblasts as response to orthodontic compressive strain: an in vitro study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Erika Calvano Küchler ◽  
Agnes Schröder ◽  
Vinicius Broska Teodoro ◽  
Ute Nazet ◽  
Rafaela Scariot ◽  
...  
Keyword(s):  
Gene Expression ◽  
Vitamin D ◽  
Single Nucleotide Polymorphisms ◽  
Periodontal Ligament ◽  
Compressive Strain ◽  
Nucleotide Polymorphisms ◽  
Periodontal Ligament Fibroblasts ◽  
Single Nucleotide ◽  
Cox 2

Abstract Background This study aimed to investigate, if different physiological concentrations of vitamin D (25(OH)D3) and single nucleotide polymorphisms in vitamin D receptor (VDR) gene have an impact on gene expression in human periodontal ligament (hPDL) fibroblasts induced by simulated orthodontic compressive strain. Methods A pool of hPDL fibroblasts was treated in absence or presence of 25(OH)D3 in 3 different concentrations (10, 40 and 60 ng/ml). In order to evaluate the role of single nucleotide polymorphisms in the VDR gene, hPDL fibroblasts from 9 patients were used and treated in absence or presence of 40 ng/ml 25(OH)D3. Each experiment was performed with and without simulated orthodontic compressive strain. Real-time PCR was used for gene expression and allelic discrimination analysis. Relative expression of dehydrocholesterol reductase (DHCR7), Sec23 homolog A, amidohydrolase domain containing 1 (AMDHD1), vitamin D 25-hydroxylase (CYP2R1), Hydroxyvitamin D-1-α hydroxylase, receptor activator of nuclear factor-κB ligand (RANKL), osteoprotegerin (OPG), cyclooxygenase-2 (COX-2) and interleukin-6 (IL6) was assessed. Three single nucleotide polymorphisms in VDR were genotyped. Parametric or non-parametric tests were used with an alpha of 5%. Results RANKL, RANKL:OPG ratio, COX-2, IL-6, DHCR7, CYP2R1 and AMDHD1 were differentially expressed during simulated orthodontic compressive strain (p < 0.05). The RANKL:OPG ratio was downregulated by all concentrations (10 ng/ml, 40 ng/ml and 60 ng/ml) of 25(OH)D3 (mean = 0.96 ± 0.68, mean = 1.61 ± 0.66 and mean = 1.86 ± 0.78, respectively) in comparison to the control (mean 2.58 ± 1.16) (p < 0.05). CYP2R1 gene expression was statistically modulated by the different 25(OH)D3 concentrations applied (p = 0.008). Samples from individuals carrying the GG genotype in rs739837 presented lower VDR mRNA expression and samples from individuals carrying the CC genotype in rs7975232 presented higher VDR mRNA expression (p < 0.05). Conclusions Simulated orthodontic compressive strain and physiological concentrations of 25(OH)D3 seem to regulate the expression of orthodontic tooth movement and vitamin-D-related genes in periodontal ligament fibroblasts in the context of orthodontic compressive strain. Our study also suggests that single nucleotide polymorphisms in the VDR gene regulate VDR expression in periodontal ligament fibroblasts in the context of orthodontic compressive strain.

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