Association of Dopamine D1 and D3 Receptor Gene Polymorphisms with Essential Hypertension in 3 Ethnic Groups in China.
Ontology highlight
ABSTRACT:
SUBMITTER: Yang H
PROVIDER: S-EPMC5476181 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Publications
Association of Dopamine D1 and D3 Receptor Gene Polymorphisms with Essential Hypertension in 3 Ethnic Groups in China.
Yang Hongju H Zhong Lianmei L Bai Song S Dong YiLong Y Wang Yanmei Y Li Qian Q Yang Qiuping Q Jiang Dejun D Bi Hongyan H Xiao Chunjie C Zheng Bingron B
Medical science monitor basic research 20170605
Background Material and Methods Results Conclusions. ...[more]
Similar Datasets
Project description:Little is known about polymorphic distribution of telomere-length related genes among ethnicities, which play important roles in the progression of high-altitude pulmonary edema (HAPE). We genotyped 45 single nucleotide polymorphism (SNP) in 300 unrelated healthy volunteers from the following three Chinese ethnic populations: Han (n = 100), Tibetan (n = 100) and Sherpa (n = 100). We used χ2 test, pairwise FST values, and structure clustering analyses to investigate the genetic differences between these populations. Our results first indicated that rs12615793 (ACYP2), rs10936599 (TERC), rs10069690 (TERT) and rs6010620, rs4809324 (RTEL1) showed the greatest number of significant differences between Han and Tibetan, Sherpa and 11 HapMap populations. Meanwhile, we found that rs1056654 and rs1056629 (MPHOSPH6), rs2320615 (NAF1), rs6010621 (RTEL1), rs8105767 and rs2188972 (ZNF208) genotype frequencies showed considerable divergence among Tibetan and Sherpa. Besides, pairwise FST values and structure clustering analyses revealed that Han exhibited a close genetic affinity with CHD and CHB, but revealed a great genetic heterogeneity with YRI and MKK. This work greatly expanded our understanding of the distribution of telomere-length related genes in Chinese populations and may be helpful to forensic applications and population genetic studies.
| S-EPMC6965982 | biostudies-literature
Project description:BackgroundCardiovascular benefits by reversing environmental risks factors for essential hypertension (EH) and dyslipidemia could be weaken by high genetic risk. We investigated possible associations between ACE2 polymorphisms and dyslipidemia in patients with EH.MethodsFour hundred and two hypertensive patients were enrolled in an EH group and 233 normotensive individuals were enrolled as control group from the Xinjiang region of China. Fourteen ACE2 polymorphisms were genotyped by Matrix-assisted laser desorption ionization time-of-flight mass spectrometry.ResultsParticipants carrying T allele (TT + CT) of rs2074192 (P = 0.006), rs4646155 (P = 0.030) and rs4646188 (P < 0.001), C allele (CT + CT or CC + CG) of rs4240157 (P = 0.012), rs4830542 (P = 0.020) and rs879922 (P < 0.001) and TT genotype of rs2106809 (P = 0.012) were associated with EH. Meanwhile,ACE2 SNPs also exhibited association with dyslipidemia but exhibited obvious heterogeneity. rs1978124 (TT + CT, P = 0.009), rs2106809 (TT, P = 0.045), rs233575 (CC + CT, P = 0.018), rs4646188 (CC, P = 0.011) and rs879922 (CC + CG, P = 0.003) were association with increased LDL-C (≥1.8 mmol/L). rs2106809 (CC + CT, P < 0.001), rs2285666(TT + CT, P = 0.017), rs4646142(CC + CG, P = 0.044), rs4646155(TT + CT, P < 0.001) and rs4646188(TT + CT, P = 0.033) were association with decreased HDL-C (< 1.0 mmol/L). rs2074192 (TT + CT, P = 0.012), rs4240157 (CC + CT, P = 0.027), rs4646156 (AA+AT, P = 0.007), rs4646188 (TT + CT, P = 0.005), rs4830542 (CC + CT, P = 0.047) and rs879922 (CC + CG, P = 0.001) were association with increased TC (≥5.2 mmol/L). rs2106809 (P = 0.034) and rs4646188 (P = 0.013) were associated with hypertriglyceridemia. Further, ischemic stroke was more prevalent with rs4240157 (CC + CT, P = 0.043), rs4646188 (CC + CT, P = 0.013) and rs4830542 (CC + CT, P = 0.037). In addition, rs2048683 and rs6632677 were not association with EH, dyslipidemia and ischemic stroke.ConclusionThe ACE2 rs4646188 variant may be a potential and optimal genetic susceptibility marker for EH, dyslipidemia and its related ischemic stroke.
| S-EPMC6195726 | biostudies-literature
Project description:Abstract Background The aim of this study is to evaluate the association between rs6280 and rs905568 genetic polymorphism of DRD3 gene and the treatment response of amisulpride. Methods After six weeks treatment of amisulpride, 125 schizophrenia patients were interviewed based on the Positive and Negative Syndrome Scale (PANSS) and the Clinical Global Impression-Severity (CGI-S). The genotyping for rs6280 and rs905568 was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. Results There was no significant difference in the frequency of genotype and allele of rs6280 between the responders and non-responders based on the total, positive, and general score of PANSS and CGI-S score. However, there was a significant association between this SNP and treatment response in the negative score of PANSS (?2 = 5.23, p = 0.022). There was no significant association between rs905568 and the response in positive, negative, general, and total PANSS score and CGI-S score. Discussion This is the first positive association study between DRD3 gene and the treatment response of negative symptoms to amisulpride in Korean schizophrenia patients. A larger scale research on more SNP of the DRD3 gene will make a progress in the study of pharmacogenetics on the treatment response of the amisulpride.
| S-EPMC5887945 | biostudies-literature
Project description: Not available
| S-EPMC2909877 | biostudies-literature
Project description:IntroductionThe renin gene has been suggested as a good candidate in the study of genetic mechanism of essential hypertension. However, studies on the contribution of renin gene polymorphisms to essential hypertension, have not had consistent outcomes. The purpose of the present study is to explore the association of renin gene polymorphisms with essential hypertension in the Han population of northern China.MethodsA case-control study was conducted among 3090 Han farmers (1533 essential hypertension patients and 1557 normotensives). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism and polymerase chain reaction-sequencing.ResultsThe genotypic and allelic distributions of rs2368564 in essential hypertension and control was significant statistically ( p<0.001). The allelic distribution of rs10900557 showed marginal statistical significance ( p=0.048). There were no significant differences in other genotypic and allelic distributions ( p>0.05). In the haplotypes comprised by the six single-nucleotide polymorphisms, there were differences in the distribution of haplotypes A-T-C-G-C-A, A-T-C-G-C-G, G-C-T-G-T-A and G-C-T-G-T-G in both groups, and their differences reached to significant levels, respectively. After having corrected for false discovery rate, this association still remained significant.ConclusionsThe current study provides evidence for a possible association of renin gene polymorphisms with essential hypertension in a Han population of northern China.
| S-EPMC5843929 | biostudies-literature
Project description:Context and objectiveDimethylarginine dimethylaminohydrolase enzymes (DDAH), which are encoded by the genes DDAH1 and DDAH2, play a fundamental role in maintaining endothelial function. We conducted a case-control study on a Chinese population that included three ethnic groups (Han, Kazakh and Uygur), to systemically investigate associations between variations in the genes DDAH1 and DDAH2 and hypertension.Design and settingExperimental study at the Department of Internal Medicine and Genetic Diagnosis, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology.MethodsThis case-control study included 1,224 patients with hypertension and 967 healthy unrelated individuals as controls. DDAH1 -396 4N (GCGT) del>ins, rs3087894, rs805304 and rs9267551 were genotyped using the TaqMan 5' nuclease assay.ResultsThe G/C genotype of rs3087894 in DDAH1 was a risk factor for hypertension in the Kazakh group in the co-dominant model (G/C versus G/G) (OR 1.39; 95% CI: 1.02-1.88; P < 0.05), with the same result in the dominant model (G/C + C/C versus G/G) (OR 1.38; 95% CI: 1.03-1.84; P < 0.05). In contrast, the C/C genotype of rs3087894 seemed to be a protective factor against hypertension in the Uygur group in the recessive model (C/C versus G/G + G/C) (OR 0.62; 95% CI: 0.39- 0.97; P < 0.05). Similar findings for rs3087894 were also observed after adjusting the variable for the age covariate.ConclusionOur results indicated that the C-allele of rs3087894 in DDAH1 was a risk factor for hypertension in the Kazakh group but a protective factor in the Uygur group.
| S-EPMC10496603 | biostudies-literature
Project description:T cells from patients with systemic lupus erythematosus (SLE) express increased amounts of PP2Ac, which contributes to decreased production of interleukin-2 (IL-2). Because IL-2 is important in the regulation of several aspects of the immune response, it has been proposed that PP2Ac contributes to the expression of SLE. This study was designed to determine whether genetic variants of PPP2AC are linked to the expression of SLE and specific clinical manifestations and account for the increased expression of PP2Ac.We conducted a trans-ethnic study of 8,695 SLE cases and 7,308 controls of 4 different ancestries. Eighteen single-nucleotide polymorphisms (SNPs) across PPP2CA were genotyped using an Illumina custom array. PPP2CA expression in SLE and control T cells was analyzed by real-time polymerase chain reaction.A 32-kb haplotype comprising multiple SNPs of PPP2CA showed significant association with SLE in Hispanic Americans, European Americans, and Asians, but not in African Americans. Conditional analyses revealed that SNP rs7704116 in intron 1 showed consistently strong association with SLE across Asian, European American, and Hispanic American populations (odds ratio 1.3 [95% confidence interval 1.14-1.31], meta-analysis P=3.8×10(-7)). In European Americans, the largest ethnic data set studied, the risk A allele of rs7704116 was associated with the presence of renal disease, anti-double-stranded DNA, and anti-RNP antibodies. PPP2CA expression was ?2-fold higher in SLE patients carrying the rs7704116 AG genotype than those carrying the GG genotype (P=0.007).Our data provide the first evidence of an association between PPP2CA polymorphisms and elevated PP2Ac transcript levels in T cells, which implicates a new molecular pathway for SLE susceptibility in European Americans, Hispanic Americans, and Asians.
| S-EPMC3163110 | biostudies-literature
Project description:Rotigotine acts as a dopamine receptor agonist with high affinity for the dopamine D2, D3, D4 and D5 receptors but with a low affinity for the dopamine D1 receptor. We have investigated this further in radioligand binding and functional studies and compared the profile of rotigotine with that of other drugs used in the treatment of Parkinson's disease (PD).The binding of rotigotine to human dopamine D1, D2, D3, D4 and D5 receptors was determined in radioligand binding studies using [(3)H]rotigotine and compared with that of standard antagonist radioligands. Functional interactions of rotigotine with human dopamine receptors was also determined.[(3)H]rotigotine can be used as an agonist radioligand to label all dopamine receptor subtypes and this can be important to derive agonist affinity estimates. Rotigotine maintains this high affinity in functional studies at all dopamine receptors especially D1, D2 and D3 receptors and, to a lesser extent, D4 and D5 receptors. Rotigotine, like apomorphine but unlike ropinirole and pramipexole, was a potent agonist at all dopamine receptors.Rotigotine is a high-potency agonist at human dopamine D1, D2 and D3 receptors with a lower potency at D4 and D5 receptors. These studies differentiate rotigotine from conventional dopamine D2 agonists, used in the treatment of PD, such as ropinirole and pramipexole which lack activity at the D1 and D5 receptors, but resembles that of apomorphine which has greater efficacy in PD than other dopamine agonists but has suboptimal pharmacokinetic properties.
| S-EPMC4314200 | biostudies-literature
Project description:Different dietary patterns and the risks of hypertension in various diet exposures among multi-ethnic population in southwest China remain extremely scarce. The aim of this study is to identify dietary patterns and explore the association between dietary patterns and the risk of hypertension among Han and multi-ethnic population in southwest China.A representative sample of 3591 participants of Han, and multi-ethnic population were recruited by stratified cluster sampling in Diqing of Yunnan Province, southwest China from September 2012 to January 2013. Participants who were under 18 years old or who could not clearly answer the questions and those who used the anti-hypertensive medication were excluded from this survey. All participants reported their dietary intakes using validated food frequency questionnaires (FFQ), and their blood pressures were measured by standardized procedures. Hypertension was defined as systolic blood pressure (SBP)???140 mmHg and/or diastolic blood pressure (DBP)???90 mmHg. Dietary patterns were identified by factor analysis with principal component. Logistic regression was used to explore the association between dietary patterns and hypertension.The overall prevalence of hypertension was 30.5% among Han and multi-ethnic population in Diqing, Yunnan Province. Three dietary patterns were identified in this study, defined as 'Grassland healthy', 'Tuber and meat', and 'Fruit and vegetable'. Participants in the 5th quintile of the three dietary patterns were at a lower risk of hypertension compared with those in the 1st quintile. The odds ratio (OR) for the 5th quintile of 'Grassland healthy' pattern, 'Tuber and meat' and 'Fruit and vegetable' was 0.693 (95% CI: 0.537-0.893, p?=?0.005), 0.678 (95% CI: 0.530-0.868, p?=?0.002), 0.759 (95% CI: 0.593-0.970, p?=?0.028), respectively. After further adjustment of participants' age, the negative association between the 'Grassland healthy' pattern and the prevalence of hypertension persisted (OR?=?0.703, 95% CI: 0.535-0.924, p?=?0.012). However, the significant associations between the other two dietary patterns and hypertension disappeared.The 'Grassland healthy' dietary pattern is associated with lower risk of hypertension, whereas there is no significant associations between the other two dietary patterns and hypertension among Han and multi-ethnic population in Diqing of Yunnan province, southwest China.
| S-EPMC6131804 | biostudies-other
Project description:The present study aimed to investigate the association between xanthine dehydrogenase (XDH) gene polymorphism and essential hypertension in the rural Han Chinese population of Fuxin, Liaoning. Han Chinese individuals, who had lived in rural areas of Fuxin, were selected as subjects for the present study. A total of 521 unrelated patients with hypertension were selected, along with a further 533 unrelated individuals with normal blood pressure, in order to serve as controls. Five tag single nucleotide polymorphisms (SNP) of the XDH gene were selected. An estimation of SNP allele frequency was determined using DNA pooling and pyrosequencing methods. Prior to Bonferroni correction, T allele frequency for rs206811 was significantly higher in patients with hypertension, as compared with the controls (64.1 vs. 59.4%; P=0.031); C allele frequency for rs1042039 was significantly higher in patients with hypertension, as compared with the controls (66.1 vs. 60.6%; P=0.011), C allele frequency for rs1054889 was significantly lower in patients with hypertension, as compared with the controls (38.8 vs. 44.8%; P=0.007); and A allele frequency for rs2073316 was significantly lower in patients with hypertension, as compared with the controls (29.2 vs. 34.4%; P=0.013). However, once a Bonferroni correction for multiple testing was applied, the XDH gene polymorphisms rs1042039, rs1054889, and rs2073316 were shown to be associated with hypertension (P=0.044, 0.035, and 0.039, respectively). These results suggest that the XDH gene polymorphisms rs1042039, rs1054889, and rs2073316 may be associated with hypertension in the rural Han Chinese population.
| S-EPMC4581766 | biostudies-literature