Associations of CXCL1 gene 5’UTR variations with ovarian cancer

Abstract Background: There are about 2.4 hundred thousand new cases and 1.5 hundred thousand deaths of ovarian cancer (OC) annually in the world. Chronic inflammation is a risk factor for OC. C-X-C motif chemokine ligand 1 (CXCL1) defects may facilitate inflammation and transactivate EGFR in ovarian cancer, but the precise haplotypes associated with the potential diseases remained largely unknown. In this work, we characterized CXCL1 gene variations to elucidate their possible associations with OC. Methods: We analyzed the the CXCL1 gene for 300 OC patients with 400 healthy participants as controls. The statistical analyses and Hardy-Weinberg equilibrium tests of the patients and control populations were conducted using the SPSS software (version 19.0) and Plink (version 1.9). Results: The variants rs11547681, rs201090116, rs199791199, rs181868085, rs4074 and rs1814092 within or near the CXCL1 gene were characterized. The genetic heterozygosity of rs11547681 and rs4074 was very high. Statistical analysis showed that the variant rs11547681 in the gene was closely associated with the risk of OC in the Chinese Han population, although this variant was not associated with FIGO stages or pathological grades of the patients.Conclusions: rs11547681 in CXCL1 was associated with the risk of OC in the Chinese Han population.

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Associations of CXCL1 gene 5’UTR variations with ovarian cancer

10.21203/rs.2.18650/v4 ◽

2020 ◽

Author(s):

Man Guo ◽

Chao Xu ◽

Yan-Zhe Chen ◽

Qi-Wen Sun ◽

Xin-Ying Zhao ◽

...

Keyword(s):

Ovarian Cancer ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Chemokine Ligand ◽

Hardy Weinberg Equilibrium ◽

Spss Software ◽

And Control ◽

Healthy Participants ◽

Very High

Abstract Background: There are about 2.4 hundred thousand new cases and 1.5 hundred thousand deaths of ovarian cancer (OC) annually in the world. Chronic inflammation is a risk factor for OC. C-X-C motif chemokine ligand 1 (CXCL1) defects may facilitate inflammation and transactivate EGFR in ovarian cancer, but the precise haplotypes associated with the potential diseases remained largely unknown. In this work, we characterized CXCL1 gene variations to elucidate their possible associations with OC. Methods: We analyzed the CXCL1 gene for 300 OC patients with 400 healthy participants as controls. The statistical analyses and Hardy-Weinberg equilibrium tests of the patients and control populations were conducted using the SPSS software (version 19.0) and Plink (version 1.9). Results: The variants rs11547681, rs201090116, rs199791199, rs181868085, rs4074 and rs1814092 within or near the CXCL1 gene were characterized. The genetic heterozygosity of rs11547681 and rs4074 was very high. Statistical analysis showed that the variant rs11547681 in the gene was closely associated with the risk of OC in the Chinese Han population, although this variant was not associated with FIGO stages or pathological grades of the patients. Conclusions: Rs11547681 in CXCL1 gene was associated with the risk of OC in the Chinese Han population.

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Associations of CXCL1 gene 5’UTR variations with ovarian cancer

10.21203/rs.2.18650/v2 ◽

2020 ◽

Author(s):

Man Guo ◽

Chao Xu ◽

Yan-Zhe Chen ◽

Qi-Wen Sun ◽

Xin-Ying Zhao ◽

...

Keyword(s):

Ovarian Cancer ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Chemokine Ligand ◽

Hardy Weinberg Equilibrium ◽

Spss Software ◽

And Control ◽

Healthy Participants ◽

Very High

Abstract Background: There are about 2.4 hundred thousand new cases and 1.5 hundred thousand deaths of ovarian cancer (OC) annually in the world. Chronic inflammation is a risk factor for OC. C-X-C motif chemokine ligand 1 (CXCL1) defects may facilitate inflammation and transactivate EGFR in ovarian cancer, but the precise haplotypes associated with the potential diseases remained largely unknown. In this work, we characterized CXCL1 gene variations to elucidate their possible associations with OC. Methods: We analyzed the CXCL1 gene for 300 OC patients with 400 healthy participants as controls. The statistical analyses and Hardy-Weinberg equilibrium tests of the patients and control populations were conducted using the SPSS software (version 19.0) and Plink (version 1.9). Results: The variants rs11547681, rs201090116, rs199791199, rs181868085, rs4074 and rs1814092 within or near the CXCL1 gene were characterized. The genetic heterozygosity of rs11547681 and rs4074 was very high. Statistical analysis showed that the variant rs11547681 in the gene was closely associated with the risk of OC in the Chinese Han population, although this variant was not associated with FIGO stages or pathological grades of the patients. Conclusions: Rs11547681 in CXCL1 gene was associated with the risk of OC in the 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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Evaluation of VEGFA gene variants for possible roles in cerebral infarction diseases

10.21203/rs.2.19207/v1 ◽

2019 ◽

Author(s):

Qiong Zhang ◽

Man Guo ◽

Chao Xu ◽

Hong Lei ◽

Jie Zhou ◽

...

Keyword(s):

Cerebral Infarction ◽

Chinese Han Population ◽

Vascular Endothelial ◽

Chinese Han ◽

Han Population ◽

Hardy Weinberg Equilibrium ◽

Spss Software ◽

Endothelial Growth Factor ◽

Vegfa Gene ◽

Normal Controls

Abstract Background: Cerebral infarction is one of the most common cerebral small vessel diseases. Many angiogenesis relevanted factors have special roles on the diseases pathogenesis. The vascular endothelial growth factor A (VEGFA) is the most prominent stimulating molecule factor for angiogenesis. So, we want to evaluate the correlation between VEGFA gene and this disease in this work. Methods: The VEGFA gene was sequenced for 400 cerebral infarction patients and 600 normal controls. SPSS software (version 19.0), Plink (version 1.9), Haploview software and online software SNPSpD were used for the statistical analyses and Hardy-Weinberg equilibrium tests. Results: We found variants rs10434, rs3025040, rs185218985, rs199971699, rs574579489, rs735286 and rs833061 within or near the VEGFA gene. The genetic heterozygosity of rs10434, rs3025040, rs735286 and rs833061 was very high. Statistical analysis showed that the variants rs10434 (P=0.041) and rs735286 (P=0.034) in the gene were associated with the risk of cerebral infarction diseases in the Chinese Han population. Conclusions: VEGFA variants rs10434 and rs735286 were associated with the risk of cerebral infarction diseases in the Chinese Han population.

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Association between the omentin-1 gene rs2274907 A>T polymorphism and colorectal cancer in the Chinese Han population: a case-control study

Journal of International Medical Research ◽

10.1177/03000605211006522 ◽

2021 ◽

Vol 49 (4) ◽

pp. 030006052110065

Author(s):

Yaqin Zhang ◽

Xiaotong Zhao ◽

Yongxiang Li ◽

Youmin Wang ◽

Mingwei Chen

Keyword(s):

Colorectal Cancer ◽

The Body ◽

Chinese Han Population ◽

Enzyme Linked Immunosorbent Assay ◽

Control Groups ◽

Chinese Han ◽

Han Population ◽

Potential Biomarker ◽

Increased Risk ◽

And Control

Objective To explore the relationship between the omentin-1 gene rs2274907 A>T polymorphism and colorectal cancer (CRC) in the Chinese Han population. Methods rs2274907 A>T was assessed by PCR–restriction fragment length polymorphism analysis. Plasma omentin-1 expression from 358 patients with CRC and 286 healthy controls was analyzed by enzyme-linked immunosorbent assay. CRC and control groups were divided into subgroups according to the body mass index (BMI) threshold of 25 kg/m2. Results No significant differences were observed between CRC and control groups in terms of genotype or allele frequencies of rs2274907 A>T. Compared with individuals with BMI <25 kg/m2 and the rs2274907 TT genotype, those with AA+AT genotypes and BMI ≥25 kg/m2 had a 3.027-fold increased risk of CRC. A significant tendency toward a higher stage of colorectal adenocarcinomas and depth of invasion was observed in individuals with the rs2274907 AA genotype compared with other genotypes. Conclusions The omentin-1 gene rs2274907 A>T polymorphism does not seem to play a critical role in the development of CRC in the Chinese Han population, but an interaction between the rs2274907 A allele and BMI may increase the CRC risk. The rs2274907 AA genotype is a potential biomarker for CRC stage progression.

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Mutation screening of the UBE3A gene in Chinese Han population with autism

10.21203/rs.3.rs-40284/v1 ◽

2020 ◽

Author(s):

Xue Zhao ◽

Ran Zhang ◽

Shunying Yu

Keyword(s):

Sample Size ◽

Sanger Sequencing ◽

Autism Spectrum ◽

Chinese Han Population ◽

Control Groups ◽

Chinese Han ◽

Han Population ◽

Coding Regions ◽

Genotype Frequencies ◽

And Control

Abstract Background 15q11-13 region is one of the most complex chromosomal regions in the human genome. UBE3A is an important candidate gene of autism spectrum disorder (ASD), which located at the 15q11-13 region and encodes ubiquitin-protein ligase E3A. Previous studies about UBE3A gene and ASD have shown inconsistent results and few studies were performed in Chinese population. This study aimed to detect the genetic variation of UBE3A gene in Chinese Han population with ASD and analyze the genetic association between these variations and ASD. Methods The samples consisted of 192 patients with clinical diagnosis of autism according to the DSM-IV diagnostic criteria and 192 healthy controls. We searched for mutations at coding sequence (CDS) regions and their adjacent non-coding regions of UBE3A gene using the high resolution melting (HRM) and Sanger sequencing methods. We further increased sample size to validate the detected variants using HRM and analyzed the difference of allele and genotype frequencies between case and control groups. Results A known single nucleotide polymorphism (T > C, rs150331504) located at the CDS4 and a known 5 bp insertion/deletion variation (AACTC+/-, rs71127053) located at the intron region of the upstream 288 bp of the CDS2 of UBE3A gene were detected using Sanger sequencing method. The association analysis suggested that there were no significant difference about the allele and genotype frequencies of rs71127053 and rs150331504 between case and control groups after extending the sample size. Besides, rs150331504 is a synonymous mutation and we analyzed the minimum free energy (MFE) of mRNA coded by the different alleles of rs150331504. The result showed that MFE values of the allele T and allele C of rs150331504 were different and indicated that the variant might alter the mRNA secondary structure. We did not detect mutations in other coding regions of UBE3A gene. Conclusions These findings showed that UBE3A gene might not be a major disease gene in Chinese ASD cases.

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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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SERPINE1 -844 and -675 polymorphisms and chronic obstructive pulmonary disease in a Chinese Han population

Journal of International Medical Research ◽

10.1177/0300060516664270 ◽

2016 ◽

Vol 44 (6) ◽

pp. 1292-1301 ◽

Cited By ~ 1

Author(s):

Xia Xu ◽

Hongchao Wang ◽

Haijun Li ◽

Xiaopei Cui ◽

Hongyu Zhang

Keyword(s):

Chronic Obstructive Pulmonary Disease ◽

Pulmonary Disease ◽

Binary Logistic Regression ◽

Allele Frequencies ◽

Chinese Han Population ◽

Chronic Obstructive ◽

Chinese Han ◽

Obstructive Pulmonary Disease ◽

Han Population ◽

Hardy Weinberg Equilibrium

Objective To investigate the association between serpin family E member 1 ( SERPINE1) -844 A/G and -675 4G/5G polymorphisms and chronic obstructive pulmonary disease (COPD) in a Chinese Han population. Method SERPINE1 -844 A/G and -675 4G/5G polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism sequencing of genomic DNA from patients with COPD and healthy smoking controls. Results Out of 140 patients with COPD and 100 controls, all SERPINE1 -844 and -675 polymorphisms were in Hardy-Weinberg equilibrium. Differences in SERPINE1 -675 4G and 5G allele frequencies were statistically significant between the COPD and control groups (odds ratio [OR] 1.45, 95% confidence interval [CI] 1.00, 2.09), but there was no significant between-group difference in SERPINE1 -844 A and G allele frequencies. The SERPINE1 -675 4G/4G genotype was associated with COPD (OR 1.87, 95% CI 1.06, 3.32 [binary logistic regression]). Haplotype analysis showed that COPD was associated with SERPINE1 -844G/4G (OR 2.11, 95% CI 1.32, 3.38) and SERPINE1 -844G/5G (OR 0.66, 95% CI 0.45, 0.95). Conclusion The SERPINE1 -675 polymorphism, but not SERPINE1 -844 polymorphism, was associated with susceptibility to COPD in a Chinese Han population.

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Lack of association between BDNF Val66Met gene polymorphism and late-onset depression in a Chinese Han population

Acta Neuropsychiatrica ◽

10.1111/j.1601-5215.2009.00401.x ◽

2009 ◽

Vol 21 (4) ◽

pp. 186-190 ◽

Cited By ~ 2

Author(s):

Jiayong You ◽

Yonggui Yuan ◽

Yanyan Shi ◽

Zhijun Zhang ◽

Xiangrong Zhang ◽

...

Keyword(s):

Plasma Level ◽

Gene Polymorphism ◽

Late Onset ◽

Chinese Han Population ◽

Bdnf Gene ◽

Chinese Han ◽

Val66met Polymorphism ◽

Han Population ◽

And Control ◽

The Relationship

Background:Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene has been suggested to be associated with major depressive disorder (MDD). There were a few reports of the relationship between the variant and late-onset depression (LOD) in Chinese Han population.Objective:To investigate the relationship among BDNF Val66Met gene variants, BDNF plasma level and LOD.Methods:Chinese Han patients with LOD (n = 99) and control subjects (n = 110) were assessed for BDNF Val66Met gene polymorphism. BDNF plasma level was tested only in LOD.Results:There were no significant differences in genotypes and allele frequencies between cases and controls (p = 0.744 and p = 0.845, respectively). Plasma BDNF level also did not show significant differences in three genotypes in LOD (p = 0.860).Conclusion:The Val66Met polymorphism in BDNF gene may not confer susceptibility to LOD in Chinese Han population.

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