Association study of a genetic variant in the long intergenic noncoding RNA (linc01080) with schizophrenia in Han Chinese

Abstract Background Schizophrenia is currently considered to be a polygene-related disease with unknown etiology. This research will verify whether the single nucleotide polymorphism (SNP) of the long intergenic noncoding RNA01080 (linc01080) contributes to the susceptibility and phenotypic heterogeneity of schizophrenia, with a view to providing data support for the prevention and individualized treatment of this disease. Method The SNP rs7990916 in linc01080 were genotyped in 1139 schizophrenic and 1039 controls in a Southern Chinese Han population by the improved multiplex ligation detection reaction (imLDR) technique. Meanwhile, we assessed and analyzed the association between this SNP and schizophrenics’ clinical symptoms, and the cognitive function. Result There was no significant difference in genotype distribution, allele frequency distribution, gender stratification analysis between the two groups. However, the SNP of rs7990916 was significantly associated with the age of onset in patients with schizophrenia (P = 8.22E-07), patients with T allele had earlier onset age compared with CC genotype carriers. In terms of cognitive function, patients with T allele scored lower than CC genotype carriers in the Tower of London score and symbol coding score in the Brief assessment of Cognition (BACS), and the difference was statistically significant (P = 0.014, P = 0.022, respectively). Conclusion Our data show for the first time that linc01080 polymorphism may affect the age of onset and neurocognitive function in patients with schizophrenia.

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Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽

10.7717/peerj.8521 ◽

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.

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Association between Cullin-3 Single-Nucleotide Polymorphism rs17479770 and Essential Hypertension in the Male Chinese Han Population

Disease Markers ◽

10.1155/2017/3062759 ◽

2017 ◽

Vol 2017 ◽

pp. 1-7 ◽

Cited By ~ 2

Author(s):

Jin Li ◽

Jing Hu ◽

Rong Sun ◽

Yongpan Zhao ◽

Heping Liu ◽

...

Keyword(s):

Essential Hypertension ◽

Protective Factor ◽

Secondary Hypertension ◽

Chinese Han Population ◽

Genotype Distribution ◽

Chinese Han ◽

Data Set ◽

Han Population ◽

Significant Difference ◽

Cullin 3

Background. Hypertension, including essential and secondary hypertension, is a multifactorial disease, affecting more than one billion people worldwide. Secondary hypertension can result from mutations of cullin-3 (CUL3); however, whether polymorphisms ofCUL3are associated with essential hypertension (EH) has not been reported. Here, we investigated the association betweenCUL3SNPs rs17479770 and rs3738952 and EH in the Chinese Han population.Methods. This case-control study investigated 520 representatives, including 259 patients with EH and 261 normotensive controls matched for age, gender, BMI, TG, TC, and HbA1c for the distribution of functional rs17479770 and rs3738952 within theCUL3gene by using PCR and RFLP.Results. Our results showed that there was no significant difference in allele and genotype distribution of rs3738952 and haplotype distribution of rs17479770 and rs3738952 between the EH group and normotensive group, whereas the rs17479770 TT genotype in male and the full data set were significantly associated with the decreased risk of EH (P=0.050,P=0.042), and rs17479770 allele T in male was shown to have the correlation tendency of the decreased risk of EH (P=0.064).Conclusion. Our data suggest that theCUL3rs17479770 variant could be a protective factor in the pathogenesis of EH.

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ANALYSIS OF THE ASSOCIATION OF BRONCHIAL ASTHMA CLINICAL COURSE WITH Arg16Gly POLYMORPHIC VARIANT IN THE β2-ADRENOCEPTOR GENE

Medical Science of Ukraine (MSU) ◽

10.32345/2664-4738.2.2021.10 ◽

2021 ◽

Vol 17 (2) ◽

pp. 70-76

Author(s):

V.V. Kachkovska ◽

L.N. Prystupa

Keyword(s):

Bronchial Asthma ◽

Early Onset ◽

Clinical Course ◽

Age Of Onset ◽

Late Onset ◽

Asthma Severity ◽

Polymorphic Variant ◽

Genotype Distribution ◽

Significant Difference ◽

Arg16gly Polymorphism

Relevance. The relevance of the study of Arg16Gly polymorphism of the β2-adrenoceptor (β2-AR) gene is due to the fact that a number of studies have proven its role in the development of bronchial asthma (BA), bronchial hyperactivity, the effectiveness of basic treatment. However, these associations show low reproducibility in various studies, so the question of the possibility of clinical application of the results of genetic testing for Arg16Gly polymorphic variant of the β2-AR gene remains unanswered. The main reasons why the clinical significance of this polymorphism is not confirmed in various studies are - population heterogeneity, insufficient sample size, improper characterization of comparison groups. Objective: to study the association of Arg16Gly polymorphism in the β2-adrenoceptor gene with BA clinical course taking into account the age of onset. Materials and methods. We examined 553 BA patients (group I included 282 patients with late-onset asthma and group II included 271 patients with early-onset asthma) and 95 apparently healthy individuals. The study has been approved by the Bioethics Committee of Medical Institute of Sumy State University. Arg16Gly polymorphism in the β2-АR gene (rs1042713) was determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results. There was no significant difference in the distribution of genotypes for Arg16Gly polymorphism in the β2-AR gene depending on asthma severity with no regard for the age of onset (χ2 = 5.14; p = 0.27). With regard for the age of onset, we found out that early-onset BA was linked to a difference in genotype distribution for this polymorphic variant in patients with severe and non-severe course (χ2 = 14.76; р = 0.001). The frequency of Gly/Gly genotype was higher in patients with severe course (41.4%) as compared to patients with mild course (16.4%), while the frequency of Arg/Arg (32.9%) and Arg/Gly (50.7%) genotypes was higher in patients with mild asthma as compared to patients with severe course (24.3% and 34.3%). There was no significant difference in the distribution of genotypes in patients with late-onset asthma with regard to course severity (χ2 = 4.94; p = 0.084). The relative risk of severe course for early-onset asthma was 3.84 times higher (95% CI 2.11–7.36; p = 0.001) in the recessive model, 2.58 times higher (95% CI 1.53–4,37, p = 0.001) in the dominant model, and 2.16 times (95% CI 1.56–3.04) higher in the additive model. In patients with late-onset asthma, no association was found in all models. Conclusions. There was no significant difference in the distribution of genotypes for Arg16Gly polymorphism in the β2-AR gene depending on asthma severity with no regard for the age of onset. When adjusted for the age of onset, the analysis revealed a difference in genotype distribution for this polymorphic variant in patients with severe and non-severe course having early-onset BA (р = 0.001). The frequency of Gly/Gly genotype was higher in patients with severe course as compared to patients with mild course. For patients with late-onset asthma, no differences were found (p = 0.084). Heterozygous and homozygous Gly allele carriers have a higher risk of early-onset asthma only.

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The maintenance of modified electroconvulsive therapy combined with risperidone is better than risperidone alone in preventing relapse of schizophrenia and improving cognitive function

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20160130 ◽

2016 ◽

Vol 74 (10) ◽

pp. 823-828 ◽

Cited By ~ 7

Author(s):

Ying Yang ◽

Xiaojing Cheng ◽

Qingzhi Xu ◽

Renjun Li ◽

Zengxun Liu ◽

...

Keyword(s):

Cognitive Function ◽

Relapse Rate ◽

Electroconvulsive Therapy ◽

Verbal Memory ◽

Visual Memory ◽

Clinical Symptoms ◽

Control Group ◽

Significant Difference ◽

Modified Electroconvulsive Therapy ◽

Experimental Group

ABSTRACT Objective To evaluate the effect of maintenance modified electroconvulsive therapy (MECT) on schizophrenic patients. Methods From June 2012 to June 2014, 62 patients with schizophrenia, who had recovered from a successful course of acute MECT, were recruited. Thirty-one patients received maintenance MECT and risperidone, as the experimental group. Another 31 patients were enrolled in the control group, and received risperidone only. The effects on cognitive functions, clinical symptoms and relapse rate were determined. Results Patients in the experimental group had a lower relapse rate and longer relapse-free survival time than the controls. Relative to the baseline evaluation, patients showed statistically significant improvement in verbal memory and visual memory. At the final assessment, the scores of verbal and visual memory were remarkably lower in the experimental group than the controls but there was no significant difference in other tests. Conclusion Maintenance MECT plus medication is superior to medication alone in preventing relapse and improving cognitive function.

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

Bioscience Reports ◽

10.1042/bsr20182423 ◽

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.

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Haplotype Analysis of Candidate Genes Involved in Inflammation and Oxidative Stress and the Susceptibility to Preeclampsia

Journal of Immunology Research ◽

10.1155/2020/4683798 ◽

2020 ◽

Vol 2020 ◽

pp. 1-11

Author(s):

Aiping Chen ◽

Huifang Zhao ◽

Jingli Wang ◽

Ru Zhang ◽

Jingjing Liu ◽

...

Keyword(s):

Oxidative Stress ◽

Haplotype Analysis ◽

Normal Pregnancy ◽

Chinese Han Population ◽

Genotype Distribution ◽

Chinese Han ◽

Inflammatory Reactions ◽

Han Population ◽

Significant Difference ◽

And Oxidative Stress

Unbalanced inflammatory reactions and oxidative stress are inseparably interconnected, and both may play crucial roles in the pathophysiological mechanisms of preeclampsia (PE). In the published previous studies, we have genotyped for SNPs that related to inflammation (rs2227485, rs153109, rs17855750, rs2027432, rs2275913, rs763780, rs4819554, and rs13015714) and oxidative stress (rs1695, rs4680, rs1800566, rs4807542, rs713041, rs7579, rs230813, rs1004467, rs3824755, and rs9932581) to investigate whether these polymorphisms were associated with susceptibility to PE in a Chinese Han population. In this present study, we collected these data of experimental and clinical from above studies for haplotype analysis of inflammation-related SNPs in 631 PE patients and 720 normal pregnancy and oxidative stress-related SNPs in 342 PE patients and 457 normal pregnancies for susceptibility to PE. The data of genotype distribution and allele frequency comparisons after correction for multiple comparisons (P/8 or P/10) showed 2 among the 8 candidate inflammation-related SNPs have significant differences (rs2027432 genotype χ2=407.377,p<0.001,p<0.00625). Moreover, the minor alleles of rs2027432 T (minor allele χ2=450.923,p<0.001,p<0.00625;OR=21.439,95%CI=15.181‐30.278) and rs4819554 G (minor allele χ2=163.465,p<0.001,p<0.00625;OR=5.814,95%CI=4.380‐7.719) were confirmed as risk allele of PE, respectively. Our analysis revealed rs2027432 (TT) of NLRP3 and rs4819554 (GG) of IL-17RA are risk factors for PE. However, no significant difference was found at the oxidative stress-related SNPs. In the candidate loci for oxidative stress, we also identified 3 SNP matches (rs4807542 and rs713041, rs230813 and rs75799, rs1004467 and rs3824755) that had high linkage disequilibrium (LD) with each other and were selected as a block (r2=0.98,r2=0.97,r2=0.97,r2>0.9), and the GT and GC haplotypes of rs4807542 and rs713041 in GPX4 showed significant differences between the PE and control groups (χ2=5.143,p=0.0233,p<0.05;χ2=6.373,p=0.0116,p<0.05). So, we inferred that polymorphisms of NLRP3 rs2027432 and IL-17RA rs4819554, which are related to inflammation, and the rs713041 variant of GPX4, which is related to oxidative stress, were associated with susceptibility to PE. The GT and GC haplotypes of rs4807542 and rs713041 in GPX4 may increase the risk of PE in the Chinese Han population.

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A Replication Study for the Association of rs726252 in PAPPA2 with Developmental Dysplasia of the Hip in Chinese Han Population

BioMed Research International ◽

10.1155/2014/979520 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 4

Author(s):

Dongquan Shi ◽

Wei Sun ◽

Xingquan Xu ◽

Zheng Hao ◽

Jin Dai ◽

...

Keyword(s):

Hip Dislocation ◽

Developmental Dysplasia ◽

Replication Study ◽

Chinese Han Population ◽

Taqman Assay ◽

Genotype Distribution ◽

Chinese Han ◽

Han Population ◽

Significant Difference ◽

Dysplasia Of The Hip

Developmental dysplasia of the hip (DDH) is a common developmental hip disorder, which ranges from mild acetabulum malformation to irreducible hip dislocation. A previous study suggested a significant association of pregnancy-associated plasma protein-A2 (PAPPA2) with DDH susceptibility in Chinese Han population. But with the consideration of the sample size, the association was still debatable. To confirm the association of the reported single nucleotide polymorphism (SNP) in PAPPA2, rs726252 with DDH, we conducted a case-control study in a larger number of subjects. We genotyped rs726252 in 697 DDH subjects and 707 control subjects by TaqMan assay. The association between this SNP and DDH was evaluated statistically. No significant difference was found in any comparison of genotype distribution nor allele frequency between cases and controls. Our replication study indicated that the association between rs726252 and DDH in Chinese Han population was debatable. The association between PAPPA2 and DDH should be evaluated by additional studies.

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Association of SLC1A2 and SLC17A7 polymorphisms with major depressive disorder in a Thai population

Asian Biomedicine ◽

10.1515/abm-2019-0012 ◽

2019 ◽

Vol 12 (3) ◽

pp. 131-138

Author(s):

Benjamard Thaweethee ◽

Sirijit Suttajit ◽

Samur Thanoi ◽

Caroline F. Dalton ◽

Gavin P. Reynolds ◽

...

Keyword(s):

Major Depressive Disorder ◽

Suicide Attempt ◽

Depressive Disorder ◽

Rating Scale ◽

Age Of Onset ◽

Excitatory Amino Acid ◽

Genotype Distribution ◽

Major Depressive ◽

Thai Population ◽

Significant Difference

AbstractBackgroundMajor depressive disorder (MDD) is a common psychiatric disorder with high prevalence and high risk of suicide. Genetic variation of glutamate transporters may associate with MDD and suicide attempt.ObjectivesTo evaluate polymorphisms of excitatory amino acid transporter 2 gene (SLC1A2; rs752949, rs1885343, rs4755404, and rs4354668) and vesicular glutamate transporter 1 gene (SLC17A7; rs1043558, rs2946848, and rs11669017) in patients with MDD with and without suicide attempt, and determine the association of these polymorphisms with age of onset and severity of MDD.MethodsDNA was extracted from blood taken from patients with MDD (n = 100; including nonsuicidal [n = 50] and suicidal [n = 50] subgroups) and controls (n = 100). Genotyping was conducted using TaqMan single-nucleotide polymorphism (SNP) genotyping.ResultsWe found a significant difference in SLC17A7 rs2946848 genotype distribution between patients in the MDD and control groups (P = 0.016). Moreover, significant differences in SLC1A2 rs752949 (P = 0.022) and SLC17A7 rs2946848 (P = 0.026) genotype distributions were observed between patients in the nonsuicidal MDD and suicidal MDD groups. SLC1A2 rs1885343 A allele carriers showed significantly lower age of onset than GG genotype (P = 0.049). Furthermore, the severity of MDD indicated by the Hamilton Depression Rating Scale (HDRS) score of G allele carriers of SLC1A2 rs4755404 was significantly greater than the CC genotype (P = 0.013).ConclusionsPolymorphisms of SLC1A2 and SLC17A7 may contribute to the risk of MDD and/or suicide attempt. An association of an SLC1A2 polymorphism with the severity of MDD was apparent.

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Association of HOTAIR Polymorphisms with Susceptibility to Psoriasis in a Chinese Han Population

BioMed Research International ◽

10.1155/2021/5522075 ◽

2021 ◽

Vol 2021 ◽

pp. 1-5

Author(s):

Xinyu Yao ◽

Siyu Hao ◽

Tiankuo Xue ◽

Keren Zhou ◽

Yu Zhang ◽

...

Keyword(s):

Noncoding Rna ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Common Disease ◽

Clinical Value ◽

Chinese Han ◽

Han Population ◽

Significant Difference ◽

Model C

Psoriasis is a common disease in dermatology, but its etiology and pathogenesis have not been fully elucidated. In recent years, researchers have found that HOX transcript antisense RNA (HOTAIR) plays an important role in biological processes as an important long-chain noncoding RNA (lncRNA). The goal of this study was to investigate the association between HOTAIR polymorphisms and psoriasis in a Chinese Han population by screening key candidate single-nucleotide polymorphism (SNPs) sites in HOTAIR. A total of 269 patients diagnosed with psoriasis and 273 healthy control subjects were enrolled in this case-control study. Three SNPs of HOTAIR were genotyped: SNP1 (rs12826786), SNP2 (rs1899663), and SNP3 (rs4759314). All polymorphisms were in Hardy-Weinberg equilibrium in both the control and patient groups, and the SNPs were in linkage disequilibrium. The distribution of the rs4759314 genotype in the control group and case group was statistically significant according to all the models except the recessive model (adjusted p value < 0.05), and the CCG haplotype group had a significant difference ( OR 95 % CI = 2.907 1.344 − 6.289 , adjusted p value = 0.0263). rs12826786 was associated with a risk of psoriasis according to the dominant model (C/T-T/T vs. C/C: OR 95 % CI = 0.70 0.48 − 1.01 , adjusted p value = 0.049) and overdominant model (C/T vs. C/C-T/T: OR 95 % CI = 0.69 0.47 − 1.01 , adjusted p value = 0.048). The current work showed that a genomic variant within HOTAIR was associated with a risk of psoriasis, and the clinical value of this study should be further evaluated in the future.

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Genetic Polymorphism in the RYR1 C6487T Is Associated with Severity of Hypospadias in Chinese Han Children

BioMed Research International ◽

10.1155/2018/7397839 ◽

2018 ◽

Vol 2018 ◽

pp. 1-7 ◽

Cited By ~ 1

Author(s):

Haiyan Zhang ◽

Zhuo Zhang ◽

Linpei Jia ◽

Wei Ji ◽

Hai Li

Keyword(s):

External Genitalia ◽

Unknown Etiology ◽

Healthy Children ◽

Control Groups ◽

Chinese Han ◽

Congenital Diseases ◽

Increased Risk ◽

Significant Difference ◽

Male External Genitalia ◽

And Control

Objective. Hypospadias is a common congenital malformation of the male external genitalia. Most cases have an unknown etiology, which is probably a mix of monogenic and multifactorial forms, implicating both genetic and environmental factors. Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital diseases associated with both dominant and recessive inheritance in humans. Herein, we evaluated the correlations of RYR1 C6487T polymorphism with the risk and severity of hypospadias. Methods. 263 congenital hypospadias children and 312 healthy children were recruited. The polymorphism of RYR1 C6487T in the peripheral blood was detected by polymerase chain reaction-restriction fragment length polymorphism, and different genotypes and allelic genes were analyzed to explore their associations with the risk of congenital hypospadias. Results. The distribution frequencies of CC/CT/TT genotypes and two alleles (C and T) at RYR1 C6487T showed significant differences between the case and control groups (P < 0.05). The frequency of C allele in the case and control groups was 46.95% and 54.94%, respectively, and of T allele was 53.05% and 45.06% (P < 0.05). In addition, the distribution frequency of CC/CT/TT genotypes exhibited significant difference between patients with mild hypospadias and those with moderate or severe hypospadias (all P > 0.05), suggesting that RYR1 C6487T polymorphism is correlated with the severity of congenital hypospadias (X2 = 13.722, P = 0.001). Conclusion. Our study demonstrated that RYR1 C6487T polymorphism might be associated with an increased risk of congenital hypospadias in Chinese Han children. Our findings highlight the heterogeneous nature of hypospadias genetic susceptibility.

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