scholarly journals HSPA1L rs1061581 polymorphism is associated with the risk of preeclampsia in Han Chinese women

2020 ◽  
Vol 40 (2) ◽  
Author(s):  
Jinbao Zong ◽  
Yan Lin ◽  
Qingwu Tian ◽  
Xin Zhao ◽  
Kaiqiu Chu ◽  
...  
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Chinese Women ◽  
Stress Protein ◽  
Han Chinese ◽  
Chinese Han ◽  
Allelic Discrimination ◽  
Allelic Frequencies ◽  
Polymerase Chain ◽  
Risk Of Preeclampsia

Abstract Preeclampsia (PE) is an excessive systemic inflammation response with dysfunction of endothelial. As a stress protein, heat shock protein 70 (HSP70) plays a pivotal role in protecting cells against apoptosis, oxidative damage and genetic damage. In humans, three genes encode members of the HSP70 class: HSPA1A, HSPA1B and HSPA1L. Our study was to investigate the association between genetic variations of HSPA1L and the susceptibility for PE in Chinese Han population. The polymorphisms of rs2227956, rs1043618 and rs1061581 in HSPA1L were genotyped by TaqMan allelic discrimination real time polymerase chain reaction (PCR) in 929 PE patients and 1024 healthy pregnant women. Statistic difference of the genotypic and allelic frequencies were found in HSPA1L rs1061581 between PE patients and controls (χ2 = 29.863, P < 0.001 by genotype; χ2 = 27.298, P < 0.001, OR = 1.874, 95%CI 1.476–2.379 by allele) and HSPA1L rs1061581 A alleles occurred more frequently in PE patients compared with healthy controls (PE vs. controls 10.28% vs. 5.76%). Furthermore, we divided the PE cases into early-onset/late-onset PE and mild/severe PE subgroups and found statistical differences in genotypic and allelic frequencies of the HSPA1L rs1061581 between early-onset PE, late-onset PE, mild PE, severe PE and controls, respectively. Moreover, HSPA1L rs1061581 A alleles were more frequent in early-onset PE, late-onset PE, mild PE and severe PE than controls respectively. Therefore, we concluded that HSPA1L rs1061581 polymorphism is associated with the risk of PE in Han Chinese women and A alleles may play a role in the susceptibility for PE.

Clinical and Neuroimaging Characterization of Chinese Dementia Patients with PSEN1 and PSEN2 Mutations

2014 ◽  
Vol 39 (1-2) ◽  
pp. 32-40 ◽  
Author(s):  
Zhihong Shi ◽  
Ying Wang ◽  
Shuai Liu ◽  
Mengyuan Liu ◽  
Shuling Liu ◽  
...  
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Novel Mutation ◽  
Chinese Patients ◽  
Phenotypic Traits ◽  
Chinese Han ◽  
Risk Variants ◽  
Dementia Patients ◽  
Positron Emission ◽  
Neurodegenerative Dementia

Background: Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset AD. Methods: We performed gene sequencing in PSEN1, PSEN2, and APP in 61 AD and 35 FTD Chinese patients. Amyloid load using 11C-labeled Pittsburgh compound B (11C-PIB) positron emission tomography (PET) and cerebral glucose metabolism using 18F-fludeoxyglucose PET were evaluated in patients carrying mutations. Results: We identified 1 known pathogenic PSEN1 (p.His163Arg, c.488A>G) mutation and 3 novel PSEN2 mutations in 6 patients. The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. The PSEN2 (p.Val214Leu, c.640G>T; p.Lys82Arg, c.245A>G) mutations were identified in 2 early-onset AD patients and 1 early-onset AD patient, respectively. Three patients with PSEN2 mutations were observed to have PIB retention on the cortex and striatum. One patient with the FTD phenotype was not observed to have PIB retention. Conclusion: PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD. Pathogenic mutations or risk variants in the PSEN2 gene can influence both FTD and AD phenotypic traits and show variations in neuroimaging characterization. © 2014 S. Karger AG, Basel

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 Combination of Genetic Markers and Age Effectively Facilitates the Identification of People with High Risk of Preeclampsia in the Han Chinese Population

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Lu Zhou ◽  
Xinjie Hui ◽  
Huijuan Yuan ◽  
Yinglin Liu ◽  
Yejun Wang
Keyword(s):  
Chinese Population ◽  
Interaction Analysis ◽  
Chinese Women ◽  
Logistic Models ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Genetic Risks ◽  
Different Populations ◽  
The Individual ◽  
Risk Of Preeclampsia

Objective. This study aimed to analyze the possible association between known genetic risks and preeclampsia in a Han Chinese population. Methods. A total of 156 patients with preeclampsia and 286 healthy Han Chinese women were enrolled and genotyped for 27 genetic alleles associated with preeclampsia in different populations. The association between the genotypes of the individual alleles and preeclampsia and the possible interaction among the alleles were analyzed. Finally logistic models were trained with the genotypes of possible alleles contributing to preeclampsia. Results. Seven alleles were significantly or marginally significantly associated with preeclampsia, which involved six genes (rs4762 in AGT, rs1800896 in IL-10, rs1800629 and rs1799724 in TNFα, rs2070744 in NOS3, rs7412 in APOE, and rs2549782 in ERAP2). A multilocus interaction analysis further disclosed an interaction among seven alleles. A logistic model showing individual or synergetic contribution to preeclampsia could reach ~0.67 preeclampsia prediction accuracy in the Han Chinese population, while integration of age information could improve the performance to ~0.75 accuracy using a fivefold training-testing evaluation strategy. Conclusions. The genetic factors were closely associated with preeclampsia in the Han Chinese population despite large ethnicity heterogeneity. The genotypes of different alleles also had synergetic interactions.

scholarly journals The rs9932581 and rs1049255 Polymorphisms in CYBA is not Associated with Preeclampsia in Chinese Han Women

2016 ◽  
Vol 39 (4) ◽  
pp. 1471-1478 ◽  
Author(s):  
Shiguo Liu ◽  
Xueying Li ◽  
Jingli Wang ◽  
Jing Ji ◽  
Jingjing Liu ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Late Onset ◽  
Case Control ◽  
Control Model ◽  
Chinese Han ◽  
Allelic Discrimination ◽  
Taqman Allelic Discrimination ◽  
Significant Difference ◽  
The Relationship ◽  
Lines Of Evidence

Background/Aims: Several lines of evidence have been reported that oxidative stress plays an important role in the pathogenesis of Preeclampsia (PE). Therefore, this research is aimed to investigate whether polymorphisms of CYBA are related to susceptibility to PE in Chinese Han women. Methods: We studied the genetic frequency of the rs9932581 and 1049255 polymorphisms in CYBA in 1029 PE patients and 1400 controls of later pregnant women by the TaqMan allelic discrimination real-time PCR and a case-control model. Results: Our research indicated that no significant differences were found for the genotypic or allelic frequencies at the two polymorphic sites in CYBA between PE patients and controls. To further study the relationship between the polymorphic sites and PE, we also found that there is no significant difference in the genetic distributions identified between the mild or severe PE and early or the late-onset PE and controls. Conclusion: The study demonstrated that the genetic variants of rs9932581 and rs1049255 in CYBA might not be associated with PE. However, investigations of genetic variability that influence on the disease outcome are needed in other large prospective populations or regions, so the complicated interconnection of genetic and environmental elements can be emulated for better understanding.

scholarly journals A Case-Control Study Indicates that no Association Exists Between Polymorphisms of IL-33 and IL-1RL1 and Preeclampsia

2016 ◽  
Vol 38 (4) ◽  
pp. 1406-1414 ◽  
Author(s):  
Xiaoyan Ren ◽  
Mingzhen Guo ◽  
Caili Liu ◽  
Tao Huang ◽  
Qiang Li ◽  
...  
Keyword(s):  
Late Onset ◽  
Hereditary Disease ◽  
Chinese Han ◽  
Chi Square ◽  
Allelic Discrimination ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
And Control ◽  
Early Late ◽  
Control Study

Background/Aims: Preeclampsia (PE) is a systemic inflammatory response syndrome involving varieties of cytokines, and previous studies have shown that IL-33 and its receptor IL-1RL1 play pivotal roles in the development of it. As a polygenetic hereditary disease, it is necessary to study the gene analysis for PE. Therefore, the present study was to determine whether IL-33 rs3939286 and IL-1RL1 rs13015714 associated with susceptibility to PE in Chinese Han women. Methods: 1,031 PE patients and 1,298 controls were enrolled and the genotyping for rs3939286 in IL-33 and rs13015714 in IL-1RL1 was performed by TaqMan allelic discrimination real-time PCR. Hardy-Weinberg equilibrium (HWE) was examined to ensure the group representativeness and Pearson's chi-square test was used to compare the differences in genetic distributions between the two groups. Results: No significant differences in genotypic and allelic frequencies of the two polymorphisms loci were observed between cases and controls. There were also no significant differences in genetic distributions between mild/severe and early/late-onset PE and control groups. Conclusion: Although our data suggested that the polymorphisms of IL-33 rs3939286 and IL-1RL1 rs13015714 might not be critical risk factors for PE in Chinese Han women, the results need to be validated in different nations.

scholarly journals Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Ying Yang ◽  
Tai-Cheng Zhou ◽  
Yong-Ying Liu ◽  
Xiao Li ◽  
Wen-Xue Wang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Dominant Mode ◽  
Han Chinese ◽  
Chinese Family ◽  
Onset Diabetes ◽  
Age Of Diagnosis

Maturity-onset diabetes of the young (MODY) is characterized by the onset of diabetes before the age of 25 years, positive family history, high genetic predisposition, monogenic mutations, and an autosomal dominant mode of inheritance. Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. Detailed clinical assessments and genetic screening for mutations in theHNF4α,GCK,HNF-1α,IPF-1,HNF1β, andNEUROD1genes were carried out in this family. One HNF4A mutation (p.T130I) and two HNF1A polymorphisms (p.I27L and p.S487N) were identified. Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulatedHNF4Aexpression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. We demonstrated that mutation p.T130I in HNF4A was pathogenic as were the predicted polymorphisms p.I27L and p.S487N in HNF1A by genetic and functional analysis. Our results show that mutations inHNF4AandHNF1Agenes might account for this early-onset inherited type 2 diabetes.

Association Between CRP Gene Polymorphisms and the Risk of Preeclampsia in Han Chinese Women

2014 ◽  
Vol 18 (11) ◽  
pp. 775-780 ◽  
Author(s):  
Yuting Wang ◽  
Qidi Wang ◽  
Changlong Guo ◽  
Shuo Wang ◽  
Xingyu Wang ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Women ◽  
Han Chinese ◽  
Risk Of Preeclampsia

scholarly journals De novo missense variants in the PPP2R5D gene associated with Parkinson's disease in Chinese Han population

2021 ◽  
Author(s):  
Xinglong Yang ◽  
Pingping Ning ◽  
Hongyan Huang ◽  
Kelu Li ◽  
Yongyun Zhu ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
De Novo ◽  
Late Onset ◽  
Comprehensive Analysis ◽  
Han Chinese ◽  
Chinese Han ◽  
Genomic Databases ◽  
Novel Variants ◽  
Chinese Cohort

Abstract Recent studies have reported an association between PPP2R5D mutations and early-onset levodopa-responsive parkinsonism. However, there was lack of comprehensive analysis of this gene in large Parkinson’s disease(PD) cohort.The aim of this study was to examine the frequency and spectrum of PPP2R5D mutations in a Han Chinese cohort with early- or late-onset PD. We sequenced all 17 exons of PPP2R5D and their flanking intron regions in 668 sporadic PD patients. Novel variants detected were validated based on genomic databases and verified using genetic data from unrelated controls. Three of the 668 PD patients carried three novel, unique PPP2R5D exonic variants(p.R91S,p.E8A,p.R523L).These variants were predicted to be “disease- causing” by mutation taster and all three mutations were found to be highly conserved across species. Our study identified three novel, rare PPP2R5D variants among Han Chinese PD patients, which broadens the spectrum of PPP2R5D mutations potentially associated with the disease.

scholarly journals Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nath Pasutharnchat ◽  
Chamaiporn Taychargumpoo ◽  
Yongkasem Vorasettakarnkij ◽  
Jakkrit Amornvit
Keyword(s):  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
Detection Threshold ◽  
Han Chinese ◽  
Motor Neuropathy ◽  
Transthyretin Amyloidosis ◽  
Initial Symptoms ◽  
Chinese Descent ◽  
The Mean

Abstract Background Ala97Ser transthyretin amyloidosis-associated polyneuropathy (ATTRA97S-PN) is a rare form of inherited polyneuropathy, usually manifesting with late-onset (> 50) progressive polyneuropathy. This mutation is mostly prevalent in Taiwanese and Han-Chinese individuals. The aim of this study was to describe the clinical and comprehensive neurophysiological profiles of ATTRA97S-PN in Thai patients. Methods The clinical profiles and serial neurophysiologic studies (nerve conduction study (NCS), quantitative sensory test (QST), and comprehensive autonomic function test (AFT)) of symptomatic ATTRA97S-PN patients who had been followed-up at King Chulalongkorn Memorial Hospital during 2010–2020 were retrospectively reviewed. Results Nine symptomatic patients (55.6 % were male) from four unrelated families were included. All were Thais of mixed Thai Chinese descent. The mean age of onset was 48.3 (32–60) years. The mean age at diagnosis was 54.8 (33–66) years. Three patients developed early-onset (< 40y) polyneuropathy. The mean Neuropathy Impairment Score was 41.33 (10–92) at diagnosis. Sensory (9/9) and autonomic (9/9) neuropathies were more frequent than motor neuropathy (5/9), which appeared in the late stage of disease. Hypoesthesia in the feet, and gastrointestinal autonomic symptoms were frequently reported as the initial symptoms. The course of neuropathy progressed over years to decades. The worsening of neuropathy tended to progress faster once motor nerves were affected in both clinical and neurophysiological aspects. Concurrent cardiac amyloidosis was found in 6/9 patients. NCS showed length-dependent sensorimotor axonal polyneuropathy in 5/9 patients, and median neuropathy at the wrist (mostly bilateral) in 7/9 patients. QST showed abnormalities in the vibratory detection threshold, the cold detection threshold and the heat pain sensation in 8/9, 8/9 and 7/7 tested patients, respectively. AFT results were abnormal in all. The mean composite autonomic severity score was 5 (3–9). Conclusions This clinical study is the first of ATTRA97S-PN in Thai patients. The mixed polyneuropathy-cardiopathy phenotype was the most common manifestation. In this cohort, the age of onset was lower, and the course of neuropathy was relatively longer, than that in previous studies. Some patients may develop early-onset polyneuropathy. This mutation has not yet been documented in any population other than Han Chinese-related populations, probably suggesting a founder effect. Further studies are warranted.

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