scholarly journals APC gene 3′UTR SNPs and interactions with environmental factors are correlated with risk of colorectal cancer in Chinese Han population

2020 ◽  
Vol 40 (3) ◽  
Author(s):  
Rongbiao Ying ◽  
Zhiping Wei ◽  
Yuxian Mei ◽  
Shasha Chen ◽  
Liming Zhu
Keyword(s):  
Colorectal Cancer ◽  
Environmental Factors ◽  
Progression Free Survival ◽  
Apc Gene ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Significant Difference ◽  
And Gender

Abstract Objective: To study the correlation between adenomatous polyposis coli (APC) gene 3′ untranslated region (UTR) single nucleotide polymorphisms (SNPs) and their interactions with environmental factors and the risk of colorectal cancer (CRC) in a Chinese Han population. Methods: Genotypes of APC gene 3′UTR rs1804197, rs41116, rs448475, and rs397768 loci in 340 Chinese Han patients with CRC and 340 healthy controls were analyzed. All patients with CRC were analyzed for progression-free survival (PFS) during a 3-year follow-up. Results: The risk of CRC in subjects carrying the APC gene rs1804197 A allele was 2.95-times higher than for the C allele carriers. The interactions of the rs1804197 SNP with body mass index (BMI) and smoking were associated with the risk of CRC. The risk of CRC in the APC gene rs397768 G allele carriers was 1.68-times higher than in the A allele carriers. The interaction between the rs397768 locus SNP and gender was also associated with the risk of CRC. The 3-year PFS of patients with APC gene rs1804197 AA genotype, CA genotype, and CC genotype CRC decreased in this order, with significant difference. In addition, the 3-year PFS of rs397768 locus GG genotype, AG genotype, and AA genotype CRC patients decreased in this order, and the difference was significant. Conclusion: The rs1804197 locus in the 3′UTR region of the APC gene and its interactions with BMI and smoking are associated with the risk of CRC in a Chinese Han population. In addition, the interaction between rs397768 locus SNP and gender is related to the risk of CRC.

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

2014 ◽  
Vol 58 (6) ◽  
pp. 640-645 ◽  
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.

scholarly journals Genetic variants in MIR17HG affect the susceptibility and prognosis of glioma in a Chinese Han population

2020 ◽  
Author(s):  
Jigao Feng ◽  
Yibin Ouyang ◽  
Dedong Xu ◽  
Qinglong He ◽  
Dayuan Liu ◽  
...  
Keyword(s):  
Progression Free Survival ◽  
Chinese Han Population ◽  
Migration And Invasion ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Kaplan Meier ◽  
Hazard Ratios ◽  
The Relationship

Abstract Background: lncRNA MIR17HG was upregulated in glioma, and participated in promoting proliferation, migration and invasion of glioma. However, the role of MIR17HG polymorphisms in the occurrence and prognosis of glioma is still unclear.Methods: In the study, 592 glioma patients and 502 control subjects were recruited. Agena MassARRAY platform was used to detect the genotype of MIR17HG polymorphisms. Logistic regression analysis was used to evaluate the relationship between MIR17HG single nucleotide polymorphisms (SNPs) and glioma risk by odds ratio (OR) and 95% confidence intervals (CIs). Kaplan–Meier curves, Cox hazards models were performed for assessing the role of these SNPs in glioma prognosis by hazard ratios (HR) and 95% CIs.Results: We found that rs7318578 (OR = 2.25, p = 3.18´10-5) was significantly associated with glioma susceptibility in the overall participants. In the subgroup with age < 40 years, rs17735387 (OR = 1.53, p = 9.05´10-3) and rs7336610 (OR = 1.35, p = 0.016) were related to the higher glioma susceptibility. More importantly, rs17735387 (HR = 0.82, log-rank p = 0.026) were associated with the longer survival of glioma patients. The GA genotype of rs17735387 had a better overall survival (HR = 0.75, log-rank p = 0.013) and progression free survival (HR = 0.73, log-rank p = 0.032) in patients with Ⅰ-Ⅱ glioma. We also found that rs72640334 was related to the poor prognosis (HR = 1.49, Log-rank p = 0.035) in female patients. In the subgroup of patients with age ³ 40 years, rs17735387 was associated with a better prognosis (HR = 0.036, Log-rank p = 0.002).Conclusion: Our study firstly reported that MIR17HG rs7318578 was a risk factor for glioma susceptibility and rs17735387 was associated with the longer survival of glioma among Chinese Han population, which might help to enhance the understanding of MIR17HG gene in gliomagenesis.

scholarly journals Genetic variants in MIR17HG affect the susceptibility and prognosis of glioma in a Chinese Han population

2020 ◽  
Author(s):  
Jigao Feng ◽  
Yibin Ouyang ◽  
Dedong Xu ◽  
Qinglong He ◽  
Dayuan Liu ◽  
...  
Keyword(s):  
Progression Free Survival ◽  
Chinese Han Population ◽  
Migration And Invasion ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Kaplan Meier ◽  
Hazard Ratios

Abstract BackgroundlncRNA MIR17HG was upregulated in glioma, and participated in promoting proliferation, migration and invasion of glioma. However, the role of MIR17HG polymorphisms in the occurrence and prognosis of glioma is still unclear.MethodsIn the study, 592 glioma patients and 502 control subjects were recruited. Agena MassARRAY platform was used to detect the genotype of MIR17HG polymorphisms. Logistic regression analysis was used to evaluate the relationship between MIR17HG single nucleotide polymorphisms (SNPs) and glioma risk by odds ratio (OR) and 95% confidence intervals (CIs). Kaplan–Meier curves, Cox hazards models were performed for assessing the role of these SNPs in glioma prognosis by hazard ratios (HR) and 95% CIs.ResultsWe found that rs7318578 (OR = 2.25, p = 3.18x10-5) was significantly associated with glioma susceptibility in the overall participants. In the subgroup with age < 40 years, rs17735387 (OR = 1.53, p = 9.05x10-3) and rs7336610 (OR = 1.35, p = 0.016) were related to the higher glioma susceptibility. More importantly, rs17735387 (HR = 0.82, log-rank p = 0.026) were associated with the longer survival of glioma patients. The GA genotype of rs17735387 had a better overall survival (HR = 0.75, log-rank p = 0.013) and progression free survival (HR = 0.73, log-rank p = 0.032) in patients with Ⅰ-Ⅱ glioma. We also found that rs72640334 was related to the poor prognosis (HR = 1.49, Log-rank p = 0.035) in female patients. In the subgroup of patients with age ≥ 40 years, rs17735387 was associated with a better prognosis (HR = 0.036, Log-rank p = 0.002).ConclusionOur study firstly reported that MIR17HG rs7318578 was a risk factor for glioma susceptibility and rs17735387 was associated with the longer survival of glioma among Chinese Han population, which might help to enhance the understanding of MIR17HG gene in gliomagenesis. In subsequent studies, we will continue to collect samples and follow up to further validate our findings and further explore the function of these MIR17HG SNPs in glioma in a larger sample size.

scholarly journals Fc receptor-like 1, 3, and 6 variants are associated with rheumatoid arthritis risk in the Chinese Han population

2021 ◽  
Vol 43 (1) ◽  
Author(s):  
Yonghui Yang ◽  
Dandan Li ◽  
Chunjuan He ◽  
Linna Peng ◽  
Shishi Xing ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Rheumatoid Arthritis Risk ◽  
Age And Gender ◽  
Han Population ◽  
Genotype Frequencies ◽  
And Gender ◽  
The Relationship

Abstract Background Rheumatoid arthritis (RA) is the most common autoimmune system diseases in our world. More studies in recent years have shown that FCRL gene polymorphisms is closely related to autoimmune diseases. It is suggested that genetic factors play a crucial role in the pathogenesis of this disease. In this study, we aimed to investigate the relationship between FCRL1 rs2050568, FCRL3 rs2317230 and FCRL6 rs58240276 polymorphisms and RA risk in the Chinese Han population. 506 with RA patients and 509 healthy controls were recruited in this study, and the single nucleotide polymorphisms (SNPs) was successfully genotyped using the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (95% CIs) after adjusting for age and gender were conducted to assess these SNPs polymorphisms and RA risk. The multifactor dimensionality reduction (MDR) method was conducted to analyze SNP-SNP interaction. Results Our results revealed that there no significant association was observed between the allele and genotype frequencies among these SNPs and RA risk (all p > 0.05). Straified analysis by age and gender, the results confirmed that FCRL1 rs2050568 T/T genotype enhanced the risk of RA in females (p = 0.014). The G/T - T/T genotype of FCRL3 rs2317230 was correlated with a decreased RA risk in males (p = 0.021). We also observed that the C/T-T/T genotype of FCRL6 rs58240276 was increased the risk of RA in the group at age >  54 years (p = 0.016). In addition, FCRL1 rs2050568-TT, FCRL6 rs58240276-TT and FCRL1 rs2050568-TT, FCRL3 rs2317230-TT, FCRL6 rs58240276-TT are the best models for multi-site MDR analysis (p < 0.05), and the two best models mentioned above and classes RA have the most significant correlation. Conclusions Our study demonstrated that FCRL1 rs2050568, FCRL3 rs2317230, and FCRL6 rs58240276 polymorphisms were correlated with RA susceptibility in the Chinese Han population.

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

2016 ◽  
Vol 31 (2) ◽  
pp. 138-143 ◽  
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.

scholarly journals Association between Interleukin-1 Gene Single Nucleotide Polymorphisms and Ischemic Stroke Classified by TOAST Criteria in the Han Population of Northern China

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Zheng Zhang ◽  
Li-Jun Liu ◽  
Chen Zhang ◽  
Yong-Peng Yu
Keyword(s):  
Ischemic Stroke ◽  
Interleukin 1 ◽  
Chinese Han Population ◽  
Large Artery ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Small Artery Occlusion ◽  
Significant Difference ◽  
Toast Criteria

Increasing evidence suggests that IL-1β(C-511T) and IL-1α(C-889T) genes polymorphisms are associated with the susceptibility to cardiocerebral vascular disease. In this paper, we investigated the relationships between these polymorphisms and the risk of ischemic stroke (IS) classified by TOAST criteria in the north Chinese Han population. 440 cases of IS and 486 age- and gender-matched controls of Chinese Han population were enrolled. Association study showed that the TT genotype and T allele of IL-1α-889 C/T were significantly associated with IS of a large artery atherosclerosis (LAA) (TT: OR = 2.01, 95% CI = 1.34–3.0, andP<0.001; T: OR = 1.44, 95% CI = 1.18–1.78, andP=0.001). However, there was no significant difference in the distribution of IL-1α-889 C/T genotypes and allele frequencies between the two subgroups (small-artery occlusion (SVD) and cardioembolism (CE)) of IS and control groups. No significant association was also found between the IL-1β-511 TT genotype and T allele (TT: OR = 0.79, 95% CI = 0.56–1.11, andP=0.175; T: OR = 0.83, 95% CI = 0.68–1.01, andP=0.066) and IS as well as subgroups of CE and SVD. Our results implicated that IL-1α-889 C/T gene polymorphism might be associated with the susceptibility to IS, especially to IS with LAA, in a north Chinese Han population.

scholarly journals Genetic variants in MIR17HG affect the susceptibility and prognosis of glioma in a Chinese Han population

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jigao Feng ◽  
Yibin Ouyang ◽  
Dedong Xu ◽  
Qinglong He ◽  
Dayuan Liu ◽  
...  
Keyword(s):  
Progression Free Survival ◽  
Chinese Han Population ◽  
Migration And Invasion ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Kaplan Meier ◽  
Hazard Ratios

Abstract Background lncRNA MIR17HG was upregulated in glioma, and participated in promoting proliferation, migration and invasion of glioma. However, the role of MIR17HG polymorphisms in the occurrence and prognosis of glioma is still unclear. Methods In the study, 592 glioma patients and 502 control subjects were recruited. Agena MassARRAY platform was used to detect the genotype of MIR17HG polymorphisms. Logistic regression analysis was used to evaluate the relationship between MIR17HG single nucleotide polymorphisms (SNPs) and glioma risk by odds ratio (OR) and 95% confidence intervals (CIs). Kaplan–Meier curves, Cox hazards models were performed for assessing the role of these SNPs in glioma prognosis by hazard ratios (HR) and 95% CIs. Results We found that rs7318578 (OR = 2.25, p = 3.18 × 10− 5) was significantly associated with glioma susceptibility in the overall participants. In the subgroup with age <  40 years, rs17735387 (OR = 1.53, p = 9.05 × 10− 3) and rs7336610 (OR = 1.35, p = 0.016) were related to the higher glioma susceptibility. More importantly, rs17735387 (HR = 0.82, log-rank p = 0.026) were associated with the longer survival of glioma patients. The GA genotype of rs17735387 had a better overall survival (HR = 0.75, log-rank p = 0.013) and progression free survival (HR = 0.73, log-rank p = 0.032) in patients with I-II glioma. We also found that rs72640334 was related to the poor prognosis (HR = 1.49, Log-rank p = 0.035) in female patients. In the subgroup of patients with age ≥ 40 years, rs17735387 was associated with a better prognosis (HR = 0.036, Log-rank p = 0.002). Conclusion Our study firstly reported that MIR17HG rs7318578 was a risk factor for glioma susceptibility and rs17735387 was associated with the longer survival of glioma among Chinese Han population, which might help to enhance the understanding of MIR17HG gene in gliomagenesis. In subsequent studies, we will continue to collect samples and follow up to further validate our findings and further explore the function of these MIR17HG SNPs in glioma in a larger sample size.

scholarly journals Genetic Variations rs859, rs4646, and rs372883 in the 3′-Untranslated Regions of Genes Are Associated with a Risk of IgA Nephropathy

2019 ◽  
Vol 44 (2) ◽  
pp. 233-244 ◽  
Author(s):  
Xiaohong Yang ◽  
Gang Jin ◽  
Yin Zhang ◽  
Maowei Xie ◽  
Wenning Li ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Case Control Study ◽  
Chinese Han Population ◽  
Untranslated Regions ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
And Gender ◽  
Control Study

Background: Previous studies indicate that genetic factors play an important role in the pathogenesis of IgA nephropathy (IgAN). To evaluate the association between single nucleotide polymorphisms (SNPs) in the 3′-untranslated region (3′-UTR) of genes and IgAN risk, we performed a case-control study in a Chinese Han population. Materials: Twelve SNPs were selected and genotyped in 384 IgAN patients and 357 healthy controls. Odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistic regression adjusted for age and gender. Multifactor dimensionality reduction (MDR) was used to analyze the interaction of SNP-SNP with IgAN risk. Results: Our study demonstrated that IL-16 rs859 (OR = 0.75, p = 0.040) and CYP19A1 rs4646 (OR = 2.58, p = 0.017) polymorphism were related to the risk of IgAN. In stratified analyses by gender, CYP19A1 rs4646 (OR = 2.96, p = 0.015) and BACH1 rs372883 (OR = 1.81, p = 0.038) polymorphisms conferred susceptibility to IgAN in males. Besides, rs372883 reduced IgAN risk in females (OR = 0.44, p = 0.042). We also found rs859 polymorphism was correlated with grade I-II (OR = 0.42, p = 0.028) in subgroup analysis of Lee’s classification. Additionally, we found rs4646 polymorphism was correlated with serum creatinine (p = 0.035). Conclusion: Our results suggested that the IL-16 rs859, CYP19A1 rs4646, and BACH1 rs372883 polymorphisms have potential roles in the genetic susceptibility to IgAN in Chinese Han population.

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

2018 ◽  
Vol 46 (6) ◽  
pp. 2292-2300 ◽  
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.

scholarly journals Effects of in IL-1B/IL-1RN variants on the susceptibility to head and neck cancer in a chinese Han population

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yanhai Yin ◽  
Fen Li ◽  
Liangqian Tong ◽  
Chunru Chen ◽  
Bo Yuan
Keyword(s):  
Logistic Regression ◽  
Head And Neck Cancer ◽  
Head And Neck ◽  
Genetic Association ◽  
Neck Cancer ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Logistic Regression Models

Abstract Background The study aimed to evaluate the relationship of IL-1B/IL-1RN polymorphisms to the predisposition of head and neck cancer (HNC) in a Chinese Han population. Methods Nine single-nucleotide polymorphisms (SNPs) in IL-1B/IL-1RN were genotyped based on Agena MassARRAY platform. Logistic regression models were used to analyze the genetic association between these SNPs and HNC risk by calculating odds ratios (ORs) and 95% confidence intervals (CI). Haplotype analysis were performed using Haploview program and logistic regression model. Results The genetic association between rs1143643 in IL-1B and the higher risk of HNC was found (OR = 1.23, 95% CI 1.04–1.46) in the overall. IL-1RN rs17042888 was related to a reduced risk of HNC in the subjects aged > 46 years (OR = 0.70, 95% CI: 0.50–0.98) and in females (OR = 0.71, 95% CI 0.52–0.98), while rs1143643 increased the predisposition of HNC among females (OR = 1.76, 95% CI 1.13–2.74). Furthermore, rs1143643 had an increased susceptibility to thyroid carcinoma (OR = 1.61, 95% CI 1.10–2.34). Moreover, compared with stage I–II, the frequency of IL-1RN rs452204-AG genotype was lower in patients with stage III–IV. Conclusions IL-1B (rs1143643) and IL-1RN (rs17042888 and rs452204) polymorphisms might be related to the individual susceptibility of HNC in the Chinese Han population. These results might help to improve the understanding of IL-1B and IL-1RN genes in the occurrence of HNC.

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