scholarly journals Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052093280
Author(s):  
Meng Gao ◽  
Kuo Zeng ◽  
Ya Li ◽  
Yong-ping Liu ◽  
Xi Xia ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Neurodevelopmental Disorder ◽  
Haplotype Frequency ◽  
Northern China ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Gene Encoding ◽  
Frequency Distributions ◽  
And Control

Objective Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. The gene encoding EF-hand domain-containing protein D2 ( EFHD2) may be a genetic risk locus for schizophrenia. Methods We genotyped four EFHD2 single-nucleotide polymorphisms (281 schizophrenia cases [SCZ], 321 controls) from northern Chinese Han individuals using Sanger sequencing and polymerase chain reaction-restriction fragment length polymorphism analysis. Differences existed in genotype, allele, and haplotype frequency distributions between SCZ and control groups. Results The rs2473357 genotype and allele frequency distributions differed between SCZ and controls; however, this difference disappeared after Bonferroni correction. Differences in rs2473357 genotype and allele frequency distributions between SCZ and controls were more pronounced in men than in women. The G allele increased schizophrenia risk (odds ratio = 1.807, 95% confidence interval = 1.164–2.803). Among six haplotypes (G–, A–, G-insC, A-C, G-C, and G-T), the G– haplotype frequency distribution differed between SCZ and controls in women; the A-C and G-C haplotype frequency distributions differed between SCZ and controls in men. Conclusions EFHD2 may be involved in schizophrenia. Sex differences in EFHD2 genotype and allele frequency distributions existed among schizophrenia patients. Further research is needed to determine the role of EFHD2 in schizophrenia.

scholarly journals X-chromosomal STR based genetic polymorphisms and demographic history of Sri Lankan ethnicities and their relationship with global populations

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nandika Perera ◽  
Gayani Galhena ◽  
Gaya Ranawaka
Keyword(s):  
Allele Frequency ◽  
Demographic History ◽  
Evolutionary Genetics ◽  
Haplotype Frequency ◽  
Allele Frequency Distribution ◽  
Sri Lankan ◽  
Frequency Distributions ◽  
Autosomal Str ◽  
History Of ◽  
Multiplex System

AbstractA new 16 X-short tandem repeat (STR) multiplex PCR system has recently been developed for Sr Lankans, though its applicability in evolutionary genetics and forensic investigations has not been thoroughly assessed. In this study, 838 unrelated individuals covering all four major ethnic groups (Sinhalese, Sri Lankan Tamils, Indian Tamils and Moors) in Sri Lanka were successfully genotyped using this new multiplex system. The results indicated a high forensic efficiency for the tested loci in all four ethnicities confirming its suitability for forensic applications of Sri Lankans. Allele frequency distribution of Indian Tamils showed subtle but statistically significant differences from those of Sinhalese and Moors, in contrast to frequency distributions previously reported for autosomal STR alleles. This suggest a sex biased demographic history among Sri Lankans requiring a separate X-STR allele frequency database for Indian Tamils. Substantial differences observed in the patterns of LD among the four groups demand the use of a separate haplotype frequency databases for each individual ethnicity. When analysed together with other 14 world populations, all Sri Lankan ethnicities except Indian Tamils clustered closely with populations from Indian Bhil tribe, Bangladesh and Europe reflecting their shared Indo-Aryan ancestry.

Allele Frequency Distributions for Four VNTR Loci in the Chinese Han Population

2001 ◽  
Vol 46 (2) ◽  
pp. 14987J
Author(s):  
Mei Yun Wu ◽  
Guang Yun Sun ◽  
Dai Xin Huang ◽  
Lin Zhang ◽  
Yu Bo Chen
Keyword(s):  
Allele Frequency ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Frequency Distributions ◽  
Han Population

scholarly journals Nicotinic Acetylcholine Receptor α4 Subunit Gene Variation Associated with Chinese Han Patients with Attention Deficit Hyperactivity Disorder

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
J. Weidong ◽  
H. Xuezhu ◽  
G. Tianyou ◽  
Y. Chuang ◽  
L. Qianqian ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Nicotinic Acetylcholine Receptor ◽  
Control Sample ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Nicotinic Acetylcholine ◽  
Gene Variation ◽  
Family Based ◽  
And Control

Previous pharmacological, human genetical, and animal models have implicated the nicotinic acetylcholine receptor α4 subunit (CHRNA4) gene in the pathogenesis of ADHD. The objective of this study is to examine genetic association between single nucleotide polymorphisms (SNPs) in the CHRNA4 gene (rs2273502, rs1044396, rs1044397 and rs3827020 loci) and ADHD. Both case-control and family-based design were used in this study. Children aged 6 to 16 years were interviewed and assessed with the CBCL and CPRS-R to identify probands. No significant differences in frequency distribution of genotypes or alleles between the case and control groups were found. However, further haplotype analyses showed CCGG haplotype on risk for ADHD in 164 case-control sample and TDT analysis suggested that the allele C of rs2273502 over-transferred in 98 ADHD parent-offspring trios. Our findings suggest that CHRNA4 gene may play a role in the pathogenesis of ADHD, and further work is necessary to replicate and confirm what role the CHRNA4 gene may play in the etiology and pathogenesis of ADHD in large independent samples.

scholarly journals No Association between Single Nucleotide Polymorphisms (SNPs) of the Interferon-Induced Transmembrane Protein 3 (IFITM3) Gene and the Susceptibility of Alzheimer’s Disease (AD)

Medicina ◽  
2021 ◽  
Vol 58 (1) ◽  
pp. 55
Author(s):  
Sae-Young Won ◽  
Yong-Chan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Neurodegenerative Disorder ◽  
Transmembrane Protein ◽  
Haplotype Frequency ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
First Case

Background and Objectives: Alzheimer’s disease (AD) is the most common progressive neurodegenerative disorder, characterized by the accumulation of amyloid-beta (Aβ) in the brain. A recent study reported that the interferon-induced transmembrane protein 3 (IFITM3) protein plays a pivotal role in Aβ processing by the γ-secretase complex. Since several single nucleotide polymorphisms (SNPs) of the IFITM3 gene are related to the function and expression levels of the IFITM3 gene, the relationship between genetic polymorphisms in the IFITM3 gene and susceptibility to AD needs to be investigated. Materials and Methods: We investigated the genotype and allele frequencies of IFITM3 polymorphisms in 177 AD patients and 233 matched healthy controls by amplicon sequencing. In addition, we compared the genotype, allele and haplotype frequencies between AD patients and matched controls and performed an association analysis. Results: There were no significant differences in the genotype, allele or haplotype frequency distributions of the IFITM3 polymorphisms between AD patients and matched controls. Conclusions: To the best of our knowledge, this is the first case-control association study of the IFITM3 gene in AD.

scholarly journals Association of FKBP5 polymorphisms with patient susceptibility to coronary artery disease comorbid with depression

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e9286
Author(s):  
Haidong Wang ◽  
Chao Wang ◽  
Xingfa Song ◽  
Hai Liu ◽  
Yun Zhang ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Allele Frequency ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Fk506 Binding Protein ◽  
Link Type ◽  
Significant Difference ◽  
Patient Health ◽  
Artery Disease

Background Coronary artery disease (CAD) and depression cause great burden to society and frequently co-occur. The exact mechanisms of this comorbidity are unclear. FK506-binding protein 51 (FKBP51) is correlated with cardiovascular disease and depression. The aim of this study was to determine the role of the seven single nucleotide polymorphisms (SNPs) of FKBP5 that code FKBP51, namely, rs1360780 (C>T), rs2817032 (T>C), rs2817035 (G>A), rs9296158 (G>A), rs9470079 (G>A), rs4713902 (T>C), and rs3800373 (C>T) in a patient’s susceptibility to comorbid CAD and depression. Methods We enrolled 271 Northern Chinese Han patients with CAD, including 123 patients with depression and 147 patients without depression. We also included 113 healthy controls that match the patients’ sex and age. Genomic DNA from whole blood was extracted, and seven SNPs were assessed using MassArray method. Patient Health Questionnaire-9 was applied to access the depression. Results The GA genotype for rs9470079 was associated with a significantly decreased risk of CAD (odds ratio = 0.506, 95% confidence interval = 0.316–0.810, P = 0.005) when the GG genotype was used as reference. A statistically significant difference was observed among females but not among males in the rs9470079 genotype and allele frequency. Patients with CAD were further divided into CAD+D and CAD-D groups according to the presence of comorbid depression and were compared with the controls. Significant differences were found regarding the genotype and allele frequency of rs2817035 and rs9470079 in CAD+H groups compared with the control subjects in all groups and the female groups (P < 0.05). Conclusions The current study found a remarkable association between FKBP5 gene variations and the risk of comorbid CAD and depression in a north Chinese population. rs9470079 may be a potential gene locus for the incidence of comorbid CAD and depression.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2020 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Logistic Regression Models ◽  
False Discovery ◽  
Beck Disease

Abstract Objective: We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods: Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls. The correlation between genetic polymorphisms and KBD risk were assessed using logistic regression models by calculating odds ratio (OR) and 95% confidence interval (CI). Results: After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, p = 0.024) and recessive (OR = 16.39, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, p = 0.048). However, no strong relationships were observed after false discovery rate correction. In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion: COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2020 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Logistic Regression Model ◽  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Beck Disease

Abstract Objective We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls using the Agena MassARRAY platform. The association between genetic polymorphisms ( COL9A1 : rs3806093, rs603410 and rs621347; COL19A1 : rs9346371 and rs555313) and KBD risk were assessed using logistic regression model by calculating odds ratio (OR) and 95% confidence interval (CI). Results After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, 95%CI = 1.42-154.80, p = 0.024) and recessive (OR = 16.39, 95%CI = 1.60-168.20, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, 95%CI = 1.01-14.27, p = 0.048). In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

The investigation of BTLA single-nucleotide polymorphisms in patients with Behcet disease in Elazıg province

2020 ◽  
Vol 45 (3) ◽  
pp. 323-327
Author(s):  
Yasin Cetin ◽  
Nafiye Fulya Ilhan ◽  
Deniz Sen ◽  
Sevim Karakas Celik
Keyword(s):  
Lymphocyte Activation ◽  
Behçet Disease ◽  
Nucleotide Polymorphisms ◽  
Behcet Disease ◽  
Gene Encoding ◽  
Mortality And Morbidity ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Risk Of Disease ◽  
And Control

AbstractObjectiveBehcet Disease (BD) is a systemic chronic autoinflammatory disorder that significantly increases mortality and morbidity. Although B- and T-lymphocyte attenuator (BTLA) is important in regulating lymphocyte activation during inflammation and infection, it is unclear whether any polymorphism in the gene encoding the BTLA is associated with autoimmune diseases and cancer. The goal of the study was to research the relationship between the alleles, genotypes and haplotypes frequencies of chosen BTLA gene polymorphisms (rs184489 and rs9288952) and the risk of Behcet disease.Materials and methodsThe population of this study consisted of 108 patients with BD and 108 healthy controls. Genotyping for the rs184489 and rs9288952 polymorphisms were performed using PCR-RFLP method.ResultsIn terms of genotype and allele frequencies between the patient and control groups, there were no statistically significant differences (p > 0.05). However, there was a statistically significant difference in haplotype analysis between the two groups (p = 0.001). Moreover, carrying the T allele for the rs1844089 polymorphism and C allele for the rs9288952 polymorphism increase the risk of disease.ConclusionOur findings propose that CT haplotype might have a potential function in the susceptibility to BD.

scholarly journals Effects of GSTP1 and GPX1 Polymorphisms on the Risk of Preeclampsia in Chinese Han Women

2016 ◽  
Vol 39 (5) ◽  
pp. 2025-2032 ◽  
Author(s):  
Huijie Gao ◽  
Chao Liu ◽  
Ping Lin ◽  
Luo Xu ◽  
Xiao Li ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Late Onset ◽  
Antioxidant Activities ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Study Results ◽  
Different Populations ◽  
And Control

Background/Aims: Increasing evidence shows that oxidative stress plays an important part in the pathophysiological mechanisms of preeclampsia (PE). Polymorphic variants of oxidative stress-related candidate genes GST1 and GPX1 can affect the antioxidant activities of their encoded enzymes. Therefore, this study aimed to explore the associational analysis between GSTP1 and GPX1 single nucleotide polymorphisms (SNPs) and susceptibility to PE in Chinese Han women. Methods: DNA from 1130 PE patients and 1226 healthy individuals was genotyped for SNPs rs1695 in GSTP1 and rs1050450 in GPX1 using a predesigned TaqMan SNP genotyping assay. The χ2 test compared differences in genetic distributions between the two groups in a case-control study. Results: No significant differences in allelic or genotypic frequencies of GSTP1 rs1695 or GPX1 rs1050450 were detected between cases and controls (GSTP1 rs1695: χ2=1.122, p=0.571 by genotype, χ2=0.138, p=0.710, odds ratio=1.027, 95% confidence interval 0.892-1.183 by allele; GPX1 rs1050450: χ2=0.036, p=0.982 by genotype, χ2=0.002, p=0.960, odds ratio=1.005, 95% confidence interval 0.822-1.229 by allele). Moreover, no significant differences in genetic distribution were found between early/late-onset PE or mild/severe PE and control subgroups. Conclusion: Our results suggest that GSTP1 rs1695 and GPX1 rs1050450 SNPs have no effects on the risk of PE in the Chinese Han population. However, these results should be confirmed by replication in different populations.

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