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

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

10.21203/rs.3.rs-120606/v1 ◽

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.

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

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/0004-2730000003209 ◽

2014 ◽

Vol 58 (6) ◽

pp. 640-645 ◽

Cited By ~ 3

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.

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The Association between theLPAGene Polymorphism and Coronary Artery Disease in Chinese Han Population

BioMed Research International ◽

10.1155/2014/370670 ◽

2014 ◽

Vol 2014 ◽

pp. 1-6 ◽

Cited By ~ 6

Author(s):

Zi-Kai Song ◽

Hai-Di Wu ◽

Hong-Yan Cao ◽

Ling Qin

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Artery Disease ◽

The Relationship

Lp(a) has been well known as an independent risk factor for coronary artery disease (CAD). TheLPAgene, as it encodes apo(a) of the Lp(a) lipoprotein particle, was associated with increased risk of CAD. The purpose of this study was to analyze the relationship between the polymorphisms ofLPAgene and CAD in Chinese Han population. Five SNPs (rs1367211, rs3127596, rs6415085, rs9347438, and rs9364559) in theLPAgene were genotyped using Sequenom MassARRAY time-of-flight mass spectrometer (TOF) in 560 CAD patients as case group and 531 non-CAD subjects as control group. The numbers of these two groups were from Chinese Han ancestry. The results showed that allele (P=0.046) and genotype (P=0.026) of rs9364559 in theLPAgene was associated with CAD. The frequency of rs9364559 minor allele (G) in case group was obviously higher than that in control group. Results of haplotype analysis showed that 4 haplotypes which contained rs9364559-G were associated with increased risk of CAD in this population. This study explored rs9364559 in theLPAgene may be associated with the pathogenesis of CAD; and the risk of CAD might be higher in the population carrying 4 haplotypes of different blocks in theLPAgene.

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Associations of VDR gene polymorphisms with risk of coal workers’ pneumoconiosis in Chinese Han population

Toxicology Research ◽

10.1093/toxres/tfaa038 ◽

2020 ◽

Vol 9 (4) ◽

pp. 399-405

Author(s):

Xi Yang ◽

Meiting Qin ◽

Shanshan Cui ◽

Qi Zhang

Keyword(s):

High Performance ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Multifactor Dimensionality Reduction Analysis ◽

Chinese Han ◽

Vdr Gene ◽

Han Population ◽

Vdr Gene Polymorphisms ◽

Vdr Polymorphisms

Abstract Some studies showed that the polymorphisms of vitamin D receptor (VDR) gene were associated with pulmonary diseases. However, the relationship between the VDR variations and susceptibility to coal worker’s pneumoconiosis (CWP) remains unclear. The study aimed to determine the associations between VDR polymorphisms and susceptibility to CWP in Chinese Han population. The study involved 340 CWP patients and 312 healthy controls. The VDR polymorphisms were determined by DNA sequencing, and serum 25(OH)2D levels were detected by Ultra High-Performance Liquid Chromatography-Tandem Mass Spectrometry. The results showed that the VDR gene ApaI T allele increased the risk of CWP (OR = 1.486, 95% CI = 1.125–1.963, P = 0.006) and ApaI GT genotype as well as TT genotype increased the risk of CWP (GT vs. GG, OR = 1.461, 95% CI = 1.048–2.038, P = 0.025; TT vs. GG, OR = 2.673, 95% CI = 1.017–7.025, P = 0.039). Five haplotypes were identified and we found that the TGGT haplotype was associated with a lower risk of CWP (OR = 0.755, 95% CI = 0.603–0.946, P = 0.014). Meanwhile, multifactor dimensionality reduction analysis showed that the interaction between ApaI and exposure was the strongest, followed by TaqI and then BsmI. The study also found that the serum 25(OH)2D mean levels of the case group were significantly lower than that of the control group, and the serum 25(OH)2D mean levels of ApaI homozygous mutant and heterozygous mutant subjects were lower than that of the wild homozygosity, respectively (P < 0.001). The results suggested that ApaI T allele and GT or TT genotype and lower 25(OH)2D levels were increased the risk of CWP in Chinese Han population.

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

10.21203/rs.3.rs-28181/v1 ◽

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.

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Association between polymorphism of the NEDD4 gene and cognitive dysfunction of schizophrenia patients in Chinese Han population

BMC Psychiatry ◽

10.1186/s12888-019-2386-y ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Chao Han ◽

Kaiyan Cui ◽

Xiaojiao Bi ◽

Lina Wang ◽

Mengmeng Sun ◽

...

Keyword(s):

Cognitive Dysfunction ◽

Verbal Learning ◽

Chinese Han Population ◽

Unknown Etiology ◽

Control Group ◽

Case Group ◽

Chinese Han ◽

Han Population ◽

Group Members ◽

And Control

Abstract Background Schizophrenia is a complex psychiatric disorder with unknown etiology. A number of recent studies have shown that the polymorphism of the neural precursor cell expressed developmentally down-regulated 4 (NEDD4) gene is associated with a variety of neuropsychiatric disorders, such as schizophrenia, and may also be associated with cognitive dysfunction in these diseases. Methods A case-control study was carried out, the alleles and genotypes distributions of five loci (rs3088077, rs2303579, rs7162435, rs11550869, rs62043855) of the NEDD4 gene from 296 schizophrenia patients and 320 healthy controls were detected by using Taqman single-nucleotide polymorphism (SNP) genotyping technology. The clinical data of case and control group members were collected by self-made questionnaire and the psychotic symptoms of case group members were assessed by the Positive and Negative Syndrome Scale (PANSS). The Matrics Consensus Cognitive Battery (MCCB) was used to test the cognitive function of case group members. Results The alleles and genotypes frequency of two loci (rs3088077, rs2303579) between case and control group showed significant differences (P < 0.05). There was no significant difference in MCCB scores of patients with different genotypes at rs3088077, rs11550869 and rs7162435 loci in case group. The study of rs2303579 locus showed that, patients’ scores with CT genotype were significantly lower than those with CC and TT genotypes (P < 0.05) in the test of Wechsler Memory Scale-Third Edition (WMS-III): Spatial Span, the scores of patients with TT genotype were significantly higher than those with CT genotype (P < 0.05) in the test of Hopkins Verbal Learning Test-Revised (HVLT-R). The study of rs62043855 locus showed that patients with TG genotype had significantly lower scores than those with GG genotype (P < 0.05) in the test of Neuropsychological Assessment Battery (NAB): Mazes. Conclusions Our study showed that in schizophrenia patients of Chinese Han population, the polymorphisms of rs3088077 and rs2303579 loci were related to the pathogenesis of schizophrenia, while the polymorphisms of rs2303579 and rs62043855 loci were associated with cognitive dysfunction.

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Association of SRB1, ITGB2 gene polymorphisms with coronary heart disease in Chinese Han population

10.1101/402792 ◽

2018 ◽

Author(s):

Yuan Sun ◽

Tian Long-Wang ◽

Yong Zeng ◽

Feng-Ying Gong ◽

Hui-Juan Zhu ◽

...

Keyword(s):

Coronary Heart Disease ◽

Heart Disease ◽

Recessive Model ◽

Chinese Han Population ◽

Control Group ◽

Chinese Han ◽

Han Population ◽

Diabetes Status ◽

Significant Difference ◽

Equilibrium Test

AbstractBackgroundPrevious studies in mice and humans have implicated the lipoprotein receptor SRB1 in association with atherosclerosis and lipid levels. In our previous proteomics research, the expression of ITGB2 has differences between epicardial and subcutaneous adipose tissue. However, the association between the reported variants and risk of coronary heart disease (CHD) was not confirmed.MethodsWe conducted a case–control study consisted of 496 CHD patients and 367 controls. The two groups are adjusted for age, sex, body mass index, diabetes status and the proportion of dyslipidemia. The genotypes and allele frequency of variants rs838880,rs5888,rs5889 in SRB1 and rs235326,rs2070947,rs2070946 in ITGB2 were determined using Sequenom Mass-ARRAY technology.ResultsThe genotypes frequencies of all the six SNPs were consistent with Hardy-Weinberg Equilibrium test. For gene SRB1 rs838880, there was a significant difference in the alleles frequency(p=0.017), genotype frequency(p=0.0028), recessive model (p=0.000672) between CHD group and control group. For gene ITGB2 rs2070947, there was a significant difference in the recessive model (p=0.03). By comparing the clinical and serum metabolic indexes of SNP sites by genotype we find that among three genotypes of SRB1 rs5888,there were significant difference in the level of dyslipidemia history and serum LPA, among three genotypes of ITGB2 rs235236,there were significant difference in the levels of serum HDL,APOA1 and hypertension history, among three genotypes of ITGB2 rs2070947,there were significant difference in the level of serum APOA1,hsCRP.ConclusionsOur findings indicated that SNP rs838880 of gene SRB1 and rs2070947 of gene ITGB2 are associated with the risk of CHD in Chinese han population.

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

Bioscience Reports ◽

10.1042/bsr20181413 ◽

2018 ◽

Vol 38 (5) ◽

Cited By ~ 2

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.

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Impact of polymorphisms in DNA repair genes XPD, hOGG1 and XRCC4 on colorectal cancer risk in a Chinese Han Population

Bioscience Reports ◽

10.1042/bsr20181074 ◽

2019 ◽

Vol 39 (1) ◽

Cited By ~ 1

Author(s):

Dexi Jin ◽

Min Zhang ◽

Hongjun Hua

Keyword(s):

Colorectal Cancer ◽

Gene Polymorphisms ◽

Colorectal Carcinogenesis ◽

Chinese Han Population ◽

Control Group ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Hogg1 Gene ◽

Repair Genes

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.

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Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

Bioscience Reports ◽

10.1042/bsr20182232 ◽

2019 ◽

Vol 39 (5) ◽

Cited By ~ 1

Author(s):

Liuping Zhang ◽

Jinwei Liu ◽

Peng Cheng ◽

Fangchao Lv

Keyword(s):

Single Nucleotide Polymorphisms ◽

Mirna Target ◽

Direct Sequencing ◽

Chinese Han Population ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

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