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

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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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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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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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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A Functional Variant at miR-520a Binding Site in PIK3CA Alters Susceptibility to Colorectal Cancer in a Chinese Han Population

BioMed Research International ◽

10.1155/2015/373252 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 7

Author(s):

Lifang Ding ◽

Zao Jiang ◽

Qiaoyun Chen ◽

Rong Qin ◽

Yue Fang ◽

...

Keyword(s):

Colorectal Cancer ◽

Binding Site ◽

Target Genes ◽

Chinese Han Population ◽

Mrna Levels ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Peripheral Blood Mononucleated Cell ◽

Risk Of Cancer

An increasing body of evidence has indicated that polymorphisms in the miRNA binding site of target gene can alter the ability of miRNAs to bind their target genes and modulate the risk of cancer. We aimed to investigate the association between a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3′-UTR and the risk of colorectal cancer (CRC) in a Chinese Han population. The polymorphism rs141178472 was analyzed in a case-control study, including 386 CRC patients and 394 age- and sex-matched controls; the relationship between the polymorphism and the risk of colorectal cancer was examined. Individuals carrying the rs141178472 CC genotype or C allele had an increased risk of developing CRC (CC versus TT, OR (95% CI): 1.716 (1.084–2.716),P=0.022; C versus T, OR (95% CI): 1.258 (1.021–1.551),P=0.033). Furthermore, the expression of PIK3CA was detected in the peripheral blood mononucleated cell of CRC patients, suggesting that mRNA levels of PIK3CA might be associated with SNP rs141178472. These findings provide evidence that a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3′-UTR may play a role in the etiology of CRC.

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SYNJ2 Variant Rs9365723 is Associated with Colorectal Cancer Risk in Chinese Han Population

The International Journal of Biological Markers ◽

10.5301/jbm.5000182 ◽

2016 ◽

Vol 31 (2) ◽

pp. 138-143 ◽

Cited By ~ 7

Author(s):

Qingguo Du ◽

Xueyan Guo ◽

Xiyang Zhang ◽

Wenjing Zhou ◽

Zhuo Liu ◽

...

Keyword(s):

Colorectal Cancer ◽

Colon Cancer ◽

Genetic Model ◽

Association Studies ◽

Chinese Han Population ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Increased Risk

Purpose Colorectal cancer (CRC) is the third most common cancer and fourth leading cause of cancer mortality, and twin studies have shown that approximately 35% of the variation in susceptibility to CRC involves inherited genetic differences. We sought to investigate potential genetic associations between some single nucleotide polymorphisms (SNPs) and the risk of CRC in the Chinese Han population. Methods We conducted a case-control study including 269 cases and 309 controls. Sixteen SNPs associated with CRC risk were selected from previous genome-wide association studies and genotyped using Sequenom MassARRAY technology. Odds ratios and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusting for age and gender. Results Using the chi-squared test we found that rs9365723 was associated with CRC risk (p = 0.012). With genetic model analysis, the genotype A/G-G/G (OR = 1.50; 95% CI 1.02-2.21; p = 0.038) of rs9365723 showed an increased risk of CRC in the dominant model. Furthermore, we found that rs9365723 was associated with an increased risk only for colon cancer but not rectal cancer (p = 0.009 and p = 0.414, respectively). Conclusions Our results, combined with previous studies, suggest that rs9365723, located on SYNJ2, is associated with the risk of CRC in a Chinese population. Thus, SYNJ2 may play a role in the development of CRC, especially colon cancer.

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C5orf66 rs4976270/rs639933 Are Associated with Colorectal Cancer Risk in Southern Chinese Han Population: A Case-Control Study

Digestion ◽

10.1159/000518519 ◽

2021 ◽

pp. 1-13

Author(s):

Xingyun Zhan ◽

Fenghua Bai ◽

Sifeng Lin ◽

Tao Feng ◽

Xiaosi Tang ◽

...

Keyword(s):

Colorectal Cancer ◽

Case Control Study ◽

Case Control ◽

Chinese Han Population ◽

Candidate Snps ◽

Chinese Han ◽

Han Population ◽

Southern Chinese ◽

Increased Risk ◽

Control Study

Background: Colorectal cancer (CRC) is one of the common malignant tumors, with high mortality and poor prognosis. Our study aimed to determine the association between the long noncoding RNA (LncRNA) C5orf66 polymorphism and CRC risk in southern Chinese Han population. Method: Using the experimental design of “case-control” study (512 cases and 513 controls), we selected 4 candidate single-nucleotide polymorphisms (SNPs) of C5orf66. All candidate SNPs were genotyped by Agena MassARRAY. Logistic regression was used to analyze the association between SNPs and CRC risk. Then, we used false-positive report probability analysis to detect whether the significant result is just a chance or noteworthy observation. Multi-factor dimensionality reduction was used to analyze the interaction of “SNP-SNP” in CRC risk. Results: Our results showed that C5orf66 SNPs rs4976270 (odds ratio [OR] = 1.69, p = 0.021) and rs639933 (OR = 1.67, p = 0.024) were, respectively, associated with increasing CRC risk in the southern Chinese Han population. Stratified analysis showed that rs4976270 and rs639933 were significantly associated with an increased risk of CRC in subgroups (>60 years, body mass index ≤24 and drinking) under multiple genetic models. In addition, rs254563 and rs647161 also had potential association with CRC risk in subgroups (BMI ≤24 and drinking). Finally, haplotype analysis results showed that haplotype “TA” was significantly associated with increased CRC risk (OR = 1.21, confidence interval = 1.47–2.02, p = 0.043). Conclusion: Our study provides a new idea for the risk assessment of CRC. LncRNA C5orf66 SNPs have a certain association with CRC risk in the southern Chinese Han population.

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MUTYH and ORAI1 polymorphisms are associated with susceptibility to osteoarthritis in the Chinese Han population

Journal of International Medical Research ◽

10.1177/0300060518762988 ◽

2018 ◽

Vol 46 (6) ◽

pp. 2292-2300 ◽

Cited By ~ 2

Author(s):

Shifeng Zhang ◽

Haohui Guo ◽

Da Chen ◽

Xi Chen ◽

Qunhua Jin

Keyword(s):

Calcium Release ◽

Chinese Han Population ◽

Enzyme Linked Immunosorbent Assay ◽

Control Group ◽

Study Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

And Gender ◽

And Control

Background This study analyzed the associations between single nucleotide polymorphisms (SNPs) in the mutY homolog gene ( MUTYH) and the calcium release-activated calcium channel gene ( ORAI1) with susceptibility to osteoarthritis in the Chinese Han population. Methods A total of 350 patients diagnosed with osteoarthritis from October 2013 to May 2016 were selected as the study group, together with 350 age- and gender-matched healthy controls. MUTYH SNP rs3219463 and ORAI1 SNPs rs712853, rs12313273, rs6486795, rs12320939, and rs7135617 were analyzed by Sanger sequencing. Serum MUTYH levels were measured by enzyme-linked immunosorbent assay. The relationship between SNPs in MUTYH and ORAI1 and osteoarthritis susceptibility was analyzed and compared with the level of serum MUTYH in the osteoarthritis and control groups. Results MUTYH rs3219463 G allele carriers (GG or GA genotypes) and ORAI1 rs7135617 T allele carriers had a higher risk of osteoarthritis than patients with other genotypes. The level of serum MUTYH in the study group was significantly higher than in the control group (22.05 ± 19.14 ng/mL vs. 14.15 ± 13.54 ng/mL). Conclusions MUTYH and ORAI1 SNPs are associated with osteoarthritis susceptibility in the Chinese Han population.

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Association of ST6GAL1 and CYP19A1 polymorphisms in the 3′-UTR with astrocytoma risk and prognosis in a Chinese Han population

BMC Cancer ◽

10.1186/s12885-021-08110-1 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Tuo Wang ◽

Yao Sun ◽

Zichao Xiong ◽

Jiamin Wu ◽

Xiaoying Ding ◽

...

Keyword(s):

Cox Regression ◽

Chinese Han Population ◽

Low Grade ◽

Central Nervous System Tumor ◽

Chinese Han ◽

Cox Regression Analysis ◽

Han Population ◽

Potential Biomarker ◽

Codominant Model ◽

System Tumor

Abstract Background Astrocytoma is a common type of central nervous system tumor. In this study, we investigated the correlation between ST6GAL1 and CYP19A1 polymorphisms and the risk and prognosis of astrocytoma. Methods A total of 365 astrocytoma patients and 379 healthy controls were genotyped using the Agena MassARRAY system. The correlation between ST6GAL1 and CYP19A1 variants and astrocytoma risk was calculated using logistic regression. The survival rate of patients with astrocytoma was analyzed to evaluate prognosis. Results We found that the ST6GAL1-rs2239611 significantly decreased the risk of astrocytoma in the codominant model (p = 0.044) and dominant model (p = 0.049). In stratified analyses, CYP19A1-rs2255192 might be associated with a higher risk of astrocytoma among the low-grade subgroup under recessive (p = 0.034) and additive (p = 0.030) models. However, CYP19A1-rs4646 had a risk-decreasing effect on the high-grade subgroup in the codominant model (p = 0.044). The results of Cox regression analysis showed that the CYP19A1-rs2239611 and -rs1042757 polymorphisms were significantly correlated with the prognosis of astrocytoma. Conclusion Our results suggest that ST6GAL1 and CYP19A1 genes may be a potential biomarker of genetic susceptibility and prognosis to astrocytoma in the Chinese Han population.

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