scholarly journals Association between gene polymorphisms of voltage-dependent Ca2+ channels andhypertension in the Dai people of China: a case-control study

2020 ◽  
Author(s):  
LiFan Huang ◽  
Yan Chu ◽  
Xiaoqin Huang ◽  
Shaohui Ma ◽  
Keqin Lin ◽  
...  
Keyword(s):  
Statistical Significance ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Protein Coding ◽  
Voltage Dependent ◽  
Typing Technique ◽  
Ca2 Channels ◽  
Control Study ◽  
Chi Square Tests

Abstract Background: Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-gated calcium channels (VDCCs), the variations in these genes may have important effects on the development of hypertension. Here we evaluate VDCCs variability with respect to hypertension in the Dai ethnic group of China.Methods: A total of 1034 samples from Dai individuals were collected, of which 495 were used as cases, and 539 were used as controls. Blood pressure was measured using a standard mercury measurement method, three times with a rest for 5 min, and the average was used for analyses. Seventeen single nucleotide polymorphisms (SNPs) in the four protein-coding genes (CACNA1A, CACNA1C, CACNA1S, CACNB2) of VDCCs were identified by multiplex PCR-SNP typing technique. Chi-square tests and regression models were used to analyse the associations of SNPs with hypertension. Results: The results of chi-square tests showed that the allele frequencies of 5 SNPs were significantly different between the case and the control groups (P<0.05), but the statistical significance was lost after Bonferroni’s correction. However, after adjusting for BMI, age, sex and other factors by logistic regression analyses, the results showed that 5 SNPs consistent with chi-square tests (rs2365293, rs17539088, rs16917217, rs61839222 and rs10425859) were still statistically positive. Conclusions: This finding suggested that the significant association of these SNPs with hypertension may be noteworthy in future studies.

scholarly journals Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study

2020 ◽  
Author(s):  
LiFan Huang ◽  
Yan Chu ◽  
Xiaoqin Huang ◽  
Shaohui Ma ◽  
Keqin Lin ◽  
...  
Keyword(s):  
Statistical Significance ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Protein Coding ◽  
Voltage Dependent ◽  
Typing Technique ◽  
Ca2 Channels ◽  
Control Study ◽  
Chi Square Tests

Abstract Background : Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-gated calcium channels (VDCCs), the variations in these genes may have important effects on the development of hypertension. Here we evaluate VDCCs variability with respect to hypertension in the Dai ethnic group of China. Methods : A total of 1034 samples from Dai individuals were collected, of which 495 were used as cases, and 539 were used as controls. Blood pressure was measured using a standard mercury measurement method, three times with a rest for 5 min, and the average was used for analyses. Seventeen single nucleotide polymorphisms (SNPs) in the four protein-coding genes ( CACNA1A, CACNA1C, CACNA1S, CACNB2 ) of VDCCs were identified by multiplex PCR-SNP typing technique. Chi-square tests and regression models were used to analyse the associations of SNPs with hypertension. Results: The results of chi-square tests showed that the allele frequencies of 5 SNPs were significantly different between the case and the control groups (P<0.05), but the statistical significance was lost after Bonferroni’s correction. However, after adjusting for BMI, age, sex and other factors by logistic regression analyses, the results showed that 5 SNPs consistent with chi-square tests (rs2365293, rs17539088, rs16917217, rs61839222 and rs10425859) were still statistically positive. Conclusions: This finding suggested that the significant association of these SNPs with hypertension may be noteworthy in future studies.

scholarly journals Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study

2020 ◽  
Author(s):  
LiFan Huang ◽  
Yan Chu ◽  
Xiaoqin Huang ◽  
Shaohui Ma ◽  
Keqin Lin ◽  
...  
Keyword(s):  
Statistical Significance ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Protein Coding ◽  
Voltage Dependent ◽  
Typing Technique ◽  
Ca2 Channels ◽  
Control Study ◽  
Chi Square Tests

Abstract Background : Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-gated calcium channels (VDCCs), the variations in these genes may have important effects on the development of hypertension. Here we evaluate VDCCs variability with respect to hypertension in the Dai ethnic group of China. Methods : A total of 1034 samples from Dai individuals were collected, of which 495 were used as cases, and 539 were used as controls. Blood pressure was measured using a standard mercury measurement method, three times with a rest for 5 min, and the average was used for analyses. Seventeen single nucleotide polymorphisms (SNPs) in the four protein-coding genes ( CACNA1A, CACNA1C, CACNA1S, CACNB2 ) of VDCCs were identified by multiplex PCR-SNP typing technique. Chi-square tests and regression models were used to analyse the associations of SNPs with hypertension. Results: The results of chi-square tests showed that the allele frequencies of 5 SNPs were significantly different between the case and the control groups (P<0.05), but the statistical significance was lost after Bonferroni’s correction. However, after adjusting for BMI, age, sex and other factors by logistic regression analyses, the results showed that 5 SNPs consistent with chi-square tests (rs2365293, rs17539088, rs16917217, rs61839222 and rs10425859) were still statistically positive. Conclusions: This finding suggested that the significant association of these SNPs with hypertension may be noteworthy in future studies.

scholarly journals Evaluation of the Relationship Between Cytochrome P450 Polymorphisms and T2DM Risk

2020 ◽  
Author(s):  
QingBin Zhao ◽  
Huiyi Wei ◽  
Zhiying Li ◽  
Haoyang Wei
Keyword(s):  
Statistical Significance ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Gender Stratification ◽  
Genotype Frequencies ◽  
Chi Square Test ◽  
The Relationship ◽  
Control Study

Abstract Background: Recent studies have identified some genetic polymorphisms of CYP2C8 and CYP2D6 related to disease susceptibility. However, it has not been reported whether polymorphisms in CYP2C8 and CYP2D6 are associated with the risk of type 2 diabetes mellitus (T2DM). We designed a case-control study to evaluate the relationship between those CYP polymorphisms and T2DM risk. Methods: Four single nucleotide polymorphisms (SNPs) of CYP2C8 and CYP2D6 were genotyped from 512 patients and 515 healthy controls using Agena MassARRAY. The chi-square test was used to compare the differences in allele and genotype frequencies between the two groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by logistic regression analysis to evaluate the relationship between polymorphism and T2DM risk. Results: The results found that the rs1065852 in CYP2D6 was correlated with the T2DM risk in overall (A vs. G: OR = 1.22, 95% CI: 1.03–1.45, P = 0.024; AA vs.GG: OR = 1.46, 95% CI: 1.04–2.06, P = 0.031; AA-AG vs. GG: OR = 1.36, 95% CI: 1.04–1.79, P = 0.026; additive: OR = 1.21, 95% CI: 1.02–1.44, P = 0.027). Gender stratification analysis results demonstrated that the rs1065852 in CYP2D6 was related with an increased the risk of T2DM in male and age < 59 years old. However, no statistical significance relation was found between CYP2C8 SNPs and T2DM risk. Conclusions: This study revealed that CYP2D6 (rs1065852) could be potential genetic markers of susceptibility to T2DM. Further studies are required to confirm our findings.

scholarly journals Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study

2019 ◽  
Author(s):  
LiFan Huang ◽  
Yan Chu ◽  
Xiaoqin Huang ◽  
Shaohui Ma ◽  
Keqin Lin ◽  
...  
Keyword(s):  
Intracellular Calcium ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
Statistical Significance ◽  
Case Control ◽  
Chi Square ◽  
Protein Coding ◽  
Protein Coding Genes ◽  
Control Study ◽  
Chi Square Tests

Abstract Background: Abnormal intracellular calcium homeostasis related to the development of hypertension. Because voltage-gated calcium channels (VDCCs) are a key regulator of intracellular calcium concentration, the variations in the VDCC protein-coding genes may have important effects on blood pressure changes and the development of hypertension. To discover the association between the gene polymorphisms of VDCCs and hypertension, we conducted a case-control study in the Dai ethnic group of China.Methods: A total of 1221 samples from Dai individuals were collected, of which 495 were used as cases, and 539 were used as controls. Seventeen single nucleotide polymorphisms (SNPs) in the four protein-coding genes (CACNA1A, CACNA1C, CACNA1S, CACNB2) of VDCCs were identified by multiplex PCR-SNP typing technique. Chi-square tests and regression models were used to analyse the associations of SNPs with hypertension. Results: The results of chi-square tests showed that the allele frequencies of 5 SNPs were significantly different between the case and the control groups (P<0.05), but the statistical significance was lost after Bonferroni’s correction. However, after adjusting for BMI, age, gender and other factors by logistic regression analyses, the results showed that 5 SNPs consistent with chi-square tests (rs2365293, rs17539088, rs16917217, rs61839222 and rs10425859) were still statistically positive.Conclusions: This finding suggested that the significant association of these SNPs with hypertension may be noteworthy in future studies.

scholarly journals PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Valquiria Quinelato ◽  
Letícia Ladeira Bonato ◽  
Alexandre Rezende Vieira ◽  
José Mauro Granjeiro ◽  
Karla Menezes ◽  
...  
Keyword(s):  
Temporomandibular Disorders ◽  
Muscle Development ◽  
Masticatory Muscles ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Muscle Stem Cells ◽  
Homozygous Genotype ◽  
Control Study

Abstract Background Temporomandibular disorders (TMD) are a group of painful and debilitating disorders, involving the masticatory muscles and/or the temporomandibular joint (TMJ). Chronic TMD pain can be associated with genetic changes in the key muscle development genes. Objective To evaluate the association between polymorphisms in the PAX7 (paired box 7) gene and masticatory myalgia in patients with temporomandibular disorders (TMD). Materials and methods This is a case-control study. Patients with TMD were divided into two groups: (a) presence of muscular TMD (n = 122) and (b) absence of muscular TMD (n = 49). Genomic DNA was obtained from saliva samples from all participants to allow for genotyping single nucleotide polymorphisms in PAX7 (rs766325 and rs6659735). Over-representation of alleles was tested using chi-square or Fisher’s exact tests. Values of p < 0.05 were considered to be statistically significant. Results Individuals without muscular TMD were less likely to have the PAX7 rs6659735 GG genotype (p = 0.03). No associations were found for PAX7 rs766325. Conclusions Alterations in PAX7 may influence muscular pathophysiology and individuals with TMD and the rs6659735 homozygous genotype (GG) are seemingly associated with muscular involvement of the disorder. No associations were found in the region rs766325.

Analysis of Inter-Chromosomal Distribution of Disease-Related Genes in Human Genome

2020 ◽  
Vol 21 (11) ◽  
pp. 1068-1077
Author(s):  
Xiaochao Sun ◽  
Bin Yang ◽  
Qunye Zhang
Keyword(s):  
Spatial Distribution ◽  
Model Organisms ◽  
Nucleotide Polymorphisms ◽  
Chromosomal Distribution ◽  
Single Nucleotide ◽  
Protein Coding ◽  
Single Chromosome ◽  
Deletion Mutations ◽  
Protein Coding Genes ◽  
Disease Related Genes

: Many studies have shown that the spatial distribution of genes within a single chromosome exhibits distinct patterns. However, little is known about the characteristics of inter-chromosomal distribution of genes (including protein-coding genes, processed transcripts and pseudogenes) in different genomes. In this study, we explored these issues using the available genomic data of both human and model organisms. Moreover, we also analyzed the distribution pattern of protein-coding genes that have been associated with 14 common diseases and the insert/deletion mutations and single nucleotide polymorphisms detected by whole genome sequencing in an acute promyelocyte leukemia patient. We obtained the following novel findings. Firstly, inter-chromosomal distribution of genes displays a nonstochastic pattern and the gene densities in different chromosomes are heterogeneous. This kind of heterogeneity is observed in genomes of both lower and higher species. Secondly, protein-coding genes involved in certain biological processes tend to be enriched in one or a few chromosomes. Our findings have added new insights into our understanding of the spatial distribution of genome and disease- related genes across chromosomes. These results could be useful in improving the efficiency of disease-associated gene screening studies by targeting specific chromosomes.

scholarly journals Impact of PD-1 gene polymorphism and its interaction with tea drinking on susceptibility to tuberculosis

2021 ◽  
Vol 149 ◽  
Author(s):  
Jing Wang ◽  
Mian Wang ◽  
Zihao Li ◽  
Xinyin Wu ◽  
Xian Zhang ◽  
...  
Keyword(s):  
Case Control Study ◽  
Preventive Measures ◽  
Nucleotide Polymorphisms ◽  
Unconditional Logistic Regression ◽  
Negative Interaction ◽  
Single Nucleotide ◽  
High Risk Populations ◽  
Tea Drinking ◽  
The Impact ◽  
Control Study

Abstract The aim of this study was to explore the impact of polymorphism of PD-1 gene and its interaction with tea drinking on susceptibility to tuberculosis (TB). A total of 503 patients with TB and 494 controls were enrolled in this case–control study. Three single-nucleotide polymorphisms of PD-1 (rs7568402, rs2227982 and rs36084323) were genotyped and unconditional logistic regression analysis was used to identify the association between PD-1 polymorphism and TB, while marginal structural linear odds models were used to estimate the interactions. Genotypes GA (OR 1.434), AA (OR 1.891) and GA + AA (OR 1.493) at rs7568402 were more prevalent in the TB patients than in the controls (P < 0.05). The relative excess risk of interaction (RERI) between rs7568402 of PD-1 genes and tea drinking was −0.3856 (95% confidence interval −0.7920 to −0.0209, P < 0.05), which showed a negative interaction. However, the RERIs between tea drinking and both rs2227982 and rs36084323 of PD-1 genes were not statistically significant. Our data demonstrate that rs7568402 of PD-1 genes was associated with susceptibility to TB, and there was a significant negative interaction between rs7568402 and tea drinking. Therefore, preventive measures through promoting the consumption of tea should be emphasised in the high-risk populations.

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