scholarly journals Association between CYP3A4 gene rs4646437 polymorphism and the risk of hypertension in Chinese population: a case–control study

2019 ◽  
Vol 39 (4) ◽  
Author(s):  
Juan Wang ◽  
Hongliang Ji ◽  
Helei Jia ◽  
Dongsheng Guan
Keyword(s):  
Chinese Population ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Significant Difference ◽  
Cyp3a4 Gene

Abstract Using a case–control design, we assessed the association between single nucleotide polymorphisms of CYP3A4 gene rs4646437 polymorphism and the risk of hypertension in Chinese population. We recruited 450 hypertension patients from The First Clinical College, Henan University of Chinese Medicine between June 2017 and May 2018. There was a significant difference in genotype distribution between case group and control group (χ2=18.169, P=0.000). The minor A allele was significantly higher in the case group than that in the control group (31.0 vs 24.8%, P=0.000, odds ratio [OR]=1.36, 95% confidence interval [95% CI]: 1.12–1.66). Significant differences were also observed in other gene models: the GA/AA genotype did not increase the risk of hypertension compared with GG genotype (OR=1.16, 95% CI: 0.90–1.49, P=0.259). Compared with GG/GA genotype, the AA genotype also increased the risk of hypertension (OR=2.34, 95% CI: 1.56–3.50, P=0.000). For additive model, the AA genotype was significantly associated with GG genotype (OR=2.25, 95% CI: 1.49–3.42, P=0.000). The same results were found for AA vs GA (OR=2.50, 95% CI: 1.60–3.89, P=0.000). For the allele genotype, the A allele frequency was significantly higher in the case group than that in the control group (31.0 vs 24.8%, P=0.002). The A allele of CYP3A4 rs4646437 was associated with an increased risk for hypertension (OR=1.36, 95% CI: 1.12–1.66, P=0.002). Our results revealed a possible genetic association between CYP3A4 gene rs4646437 and hypertension, and the AA genotype of rs4646437 increased the risk of hypertension in Chinese Han population, and this effect could be confirmed by multivariable analyses.

scholarly journals Interaction between GDF5 gene polymorphisms and environment factors increased the risk of knee osteoarthritis: a case–control study

2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Sujie Zhang ◽  
Juan Wang ◽  
Hongliang Ji ◽  
Helei Jia ◽  
Dongsheng Guan
Keyword(s):  
Knee Osteoarthritis ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Significant Difference ◽  
Gene Models ◽  
And Control ◽  
Gdf5 Gene

Abstract Using a case–control design, we assessed the association between single nucleotide polymorphisms (SNPs) of growth and differentiation factor 5 (GDF5)/rs143383 gene and interaction with environments and knee osteoarthritis (KOA). We recruited 288 KOA patients from the First Clinical College, Henan University of Chinese Medicine between June 2017 and May 2018. There was significant difference in genotype distribution between case group and control group (χ2 = 22.661, P=0.000). The minor C allele was significantly higher in the case group than that in the control group (20.5 vs 8.1%, P=0.000, odds ratio (OR) = 1.62, 95% confidence interval (CI): 1.29–2.03). Significant differences were also observed in other gene models. For age, all models show significant differences (P<0.05) for those whose age was more than 60 years, and no significant difference was observed for those under 60 years. For non-smoking group, there were significant differences between case group and control group, and for smoker, significance level was found in TT compared with CC and allele gene models. Patients with drinking and Bbody mass index (MI )≥ 24 also showed significant relationship between rs143383 and osteoarthritis (OA) under the following models: TT vs CC (P=0.000, P=0.018), TT/CT vs CC (P=0.043), TT vs CT/CC (P=0.000, P=0.009), and T vs C (P=0.024, P=0.000). Other gene models indicated no significance (P>0.05). Our results revealed a possible genetic association between GDF5 and KOA, and the TT genotype of rs143383 increased the risk of KOA in Chinese Han population. The interaction between GDF5 gene and drinking, smoking, and obesity further increased the risk of KOA.

scholarly journals Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8521
Author(s):  
Yingli Fu ◽  
Na Zhou ◽  
Wei Bai ◽  
Yaoyao Sun ◽  
Xin Chen ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Chinese Women ◽  
Han Chinese ◽  
Type I ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Significant Difference

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

scholarly journals The association of genetic variants in FGFR2 with osteoporosis susceptibility in Chinese Han population

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Yang Yang ◽  
Mengxue Fei ◽  
Xinying Zhou ◽  
Yuejun Li ◽  
Dadi Jin
Keyword(s):  
Clinical Features ◽  
Chinese Population ◽  
Control Group ◽  
Chinese Han ◽  
Fgfr2 Gene ◽  
Increased Risk ◽  
Significant Difference ◽  
The Status ◽  
Drinking Status ◽  
Hardy Weinberg Equilibrium

Abstract Objective: The present study was conducted for exploring the influence of fibroblast growth factor 2 receptor (FGFR2) gene polymorphisms on osteoporosis occurrence risk in the Chinese population. Methods: Polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) was conducted for the genotyping of polymorphism in 145 osteoporosis patients and 123 controls. The status of Hardy–Weinberg equilibrium was detected in the control group. Genotype and allele frequency comparison of polymorphism between the two groups was performed by χ2 test, odds ratio (OR) with 95% confidence interval (95% CI) was used for the result expression about the association of FGFR2 polymorphisms with osteoporosis. Furthermore, the results were adjusted by clinical features via logistic regression analysis. Results: AA genotype and A allele of rs2420946 were significantly associated with the increased risk of osteoporosis development adjusted by clinical features (OR = 2.238, 95% CI = 1.055–4.746; OR = 1.482, 95% CI = 1.042–2.019). Similarly, CC genotype and C allele frequencies of rs1219648 were detected the significant difference between the case and control groups (P&lt;0.01); moreover, it was still significant by the adjustion of clinical features, which indicated that rs1219648 was significantly associated with the risk of osteoporosis occurrence (OR = 2.900, 95% CI = 1.341–6.271; OR = 1.602, 95% CI = 1.126–2.279). Haplotype T-A-C-T also obviously increased the occurrence risk of osteoporosis (OR = 1.844, 95% CI = 1.180–2.884). Besides, the significant interaction of FGFR2 polymorphisms with drinking status in osteoporosis was also found (P&lt;0.05), especially rs2981579. Conclusion: FGFR2 rs2420946 and rs1219648 polymorphisms may be the risk factor of osteoporosis in Chinese population. Furthermore, the interaction of FGFR2 polymorphisms with drinking may play an important role in osteoporosis etiology.

scholarly journals Connection for TESPA1 Polymorphisms to ankylosing spondylitis incidence in the Chinese Population

2020 ◽  
Author(s):  
Hua-Wei Liu ◽  
Dai-Xu Wei ◽  
Da-Wei He ◽  
Jiu-Zheng Deng ◽  
Jian-Jin Zhu ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Hardy Weinberg Equilibrium ◽  
And Control

Abstract Background The aim of this study was to investigate whether thymocyte-expressed, positive selection-associated 1 (TESPA1) gene polymorphisms were associated with increased risk of developing ankylosing spondylitis(AS) in a Chinese Han population. Methods A total of 99 AS patients were recruited as case group and 96 healthy individuals were collected as control group. TESPA1 polymorphisms were genotyped by polymerase chain reaction (PCR) and sequencing methods. The genotype distribution of TESPA1 gene rs4758993 and rs4758994 polymorphism was detected by Hardy-Weinberg equilibrium (HWE). The genotype and allele distributions of each polymorphism were also compared between groups. Moreover, odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using the χ2 test to evaluate the association between AS susceptibility and TESPA1 polymorphisms. Results rs4758993 and rs4758994 polymorphisms were conformed to be in HWE in genotypes distribution of the control group (P > 0.05 for both). A remarkable decrease trend of rs4758993 AG genotype and A allele were detected in AS patients than in healthy controls (P = 0.01 and 0.02, respectively), indicating that they obviously decreased the risk of AS in a Chinese Han population (OR = 0.303, 95%CI = 0.144–0.637; OR = 0.002, 95%CI = 0.173–0.703). However, No significant differences were detected for TESPA1 gene rs4758994 polymorphism in both genotype and allele distributions between case and control groups (P > 0.05). Conclusions Our findings suggest that TESPA1 gene rs4758993 polymorphism was significantly associated with AS susceptibility in the Chinese Han population and the mutant A allele severed as a protect factor for the development of AS.

scholarly journals Case-control Study on p73 rs1801173 C > T Gene Polymorphism and Susceptibility to Gastric Cancer in a Chinese Han Population

2020 ◽  
Author(s):  
Xuyu Gu ◽  
Xiaoyan Wang ◽  
Huiwen Pan ◽  
Zhenjun Gao ◽  
Guowen Ding ◽  
...  
Keyword(s):  
Frequency Distribution ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Han Population ◽  
Significant Difference ◽  
Control Study

Abstract Objective: This study aimed to investigate the association between p73 C14T (rs1801173) polymorphism and the risk of GC in a Chinese Han population. Methods: A hospital-based case-control study was conducted. A total of 577 GC cases and 678 normal controls were recruited. Their genotypes were determined using the SnapShot method. Results: The genotype frequency distribution of the case group and the control group were consistent with the Hardy–Weinberg equilibrium. No significant difference was found in the distribution of gender, age, and drinking history between the case group and the control group. A correlation was observed between smoking and the incidence of GC (P = 0.006). Three genotypes of CC, CT, and TT were found in the rs1801173 locus of p73. The distribution of the dominant model/recessive model did not significantly differ (P = 0.688; 0.937). No statistical difference was found even after adjustment was performed via logistic regression analysis (P = 0.703; 0.990). The frequency distribution between the two groups also did not significantly differ (P = 0.763). Conclusion: Smoking is related to the occurrence and development of GC. No association was found between p73 rs1801173 C > T SNP and the risk of GC in a Chinese Han population. However, additional larger studies and tissue-specific biological characterization are required to confirm these findings.

scholarly journals Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Sen Ma ◽  
Cheng Ouyang ◽  
Shuxin Ren
Keyword(s):  
Gene Polymorphism ◽  
Knee Osteoarthritis ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Genotype Frequencies

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

scholarly journals Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study

2014 ◽  
Vol 58 (6) ◽  
pp. 640-645 ◽  
Author(s):  
TianTian Cai ◽  
Xuan Wang ◽  
Fatuma-Said Muhali ◽  
RongHua Song ◽  
XiaoHong Shi ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Autoimmune Thyroid ◽  
Allelic Frequencies ◽  
Significant Difference

Objective: The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population. Subjects and methods: A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform. Results: Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group. Conclusion: Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population.

scholarly journals A prospective case control study of the effects of oligohydramnios on fetomaternal outcome in mothers with term pregnancy in a rural medical college

2018 ◽  
Vol 7 (11) ◽  
pp. 4706
Author(s):  
Dipak Mandi ◽  
Sayantan Sen ◽  
Vasundhara Goswami
Keyword(s):  
Demographic Data ◽  
Tertiary Care ◽  
Birth Asphyxia ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Perinatal Complications ◽  
Medical College ◽  
Increased Risk ◽  
Nicu Admission

Background: The aim of the current study was to assess the fetomaternal effects of oligohydramnios on term pregnancies in a rural tertiary care setup.Methods: A perspective case control hospital-based trial was conducted at Burdwan Medical College and Hospital for a period of one year. Pregnancies at term (37-42 weeks) were included in the study. 103 patients with sonographically diagnosed oligohydramnios were included in the case group. The control group comprised of 103 mothers at term with normal liquor volume. Demographic data and fetomaternal outcome parameters were assessed and compared.Results: There was increased incidence of fetal and perinatal complications including low birth weight, birth asphyxia and NICU admission. There were more perinatal deaths in the case group compared to the control group. Induction of labour, operative delivery, meconium stained liquor and incidence of preeclampsia were also increased in mothers with low AFI.Conclusions: Oligohydramnios is associated with an increased risk of labour and perinatal complications. Adequate antenatal surveillance and intranatal monitoring coupled with correction of underly-ing factors is the mainstay of management.

scholarly journals The Relationship between Serum Levels of Vitamin C, Uric Acid and Antioxidant Condition with Coronary Artery Diseases: a Case-Control Study

2019 ◽  
Author(s):  
Aida Torkzaban ◽  
Seyed Amir Mansour Alavi Naeini ◽  
Akbar Hassanzadeh ◽  
Mehrdad Namdari
Keyword(s):  
Uric Acid ◽  
Vitamin C ◽  
Case Control Study ◽  
Demographic Data ◽  
Systolic Pressure ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Significant Difference ◽  
Control Study

Abstract Background Coronary hearth diseases are among the main causes of death in adults. Increase of oxidative stress and defects in antioxidant defense play a major role in endothelium performance and are an effective factor in progress of atherosclerosis. Some studies have also reported different malondialdehyde and total antioxidant capacity among the atherosclerosis patients.Methods In this case-control study, 44 atherosclerosis patients referring to Shahid Madani treatment-education center were considered as the case group; while 44 healthy peoples were placed in the control group. Demographic data and anthropometric indices were measured. Food frequency questionnaire and international physical activity questionnaires were also completed. After 12 hours of fasting, 10 ml blood was sampled from the participants. Uric acid, vitamin C, TAC and MDA were also measured. The data were finally analyzed by SPSS Ver 22 software.Results A significant difference was observed between the two groups in terms of uric acid (P<0.001) and vitamin C (P<0.03). However, mean MDA and TAC showed no significant difference between the two groups. The two groups’ difference in terms of vitamin A, E and beta carotene, zinc and selenium intake was not significant. A significant difference was however detected between the two groups in terms of vitamin C (P<0.047). A significant relationship was also observed between the systolic pressure and CHD (P<0.028).Conclusion Results of this study indicated that the uric acid and vitamin C levels of atherosclerosis patients had significant increase and decrease in comparison with the healthy subjects, respectively. Mean TAC and antioxidant levels of their diets (except for vitamin C) showed no significant difference. Systolic blood pressure of the patients was significantly higher than the controls.

scholarly journals An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Saneipour ◽  
Abdolkarim Sheikhi ◽  
Abbas Moridnia
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Allele Frequency ◽  
Genetic Alterations ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Estrogen Receptor 1

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

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