scholarly journals Impact of COL6A4P2 gene polymorphisms on the risk of lung cancer: A case-control study

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0252082
Author(s):  
Xiaodong Dang ◽  
Wenhui Zhao ◽  
Chen Li ◽  
Hua Yang ◽  
Dianzhen Li ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Additive Model ◽  
Population Based ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Chd Risk ◽  
Codominant Model ◽  
Basic Reference

Lung cancer (LC) is a malignant tumor that poses the greatest threat to human health and life. Most studies suggested that the occurrence of LC is associated with environmental and genetic factors. We aimed to explore the association between COL6A4P2 single nucleotide polymorphisms (SNPs) and CHD risk in the Chinese Southern Han population. Based on the ‘case-control’ experimental design (510 cases and 495 controls), we conducted an association study between five candidate COL6A4P2 SNPs and the corresponding LC risk. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression to analyze the LC susceptibility under different genetic models. The results showed that COL6A4P2 rs34445363 was significantly associated with LC risk under alleles model (OR = 1.26, 95%CI: 1.01–1.58, p = 0.038). In addition, rs34445363 was also significantly associated with LC risk under the log-additive model (OR = 1.26, 95%CI: 1.01–1.58, p = 0.041). The results of subgroup analysis showed that rs34445363 (OR = 1.42, 95%CI: 1.03–1.95, p = 0.033) and rs61733464 (OR = 0.72, 95%CI: 0.52–0.99, p = 0.048) were both significantly associated with LC risk in the log-additive model among participants who were ≤ 61 years old. We also found that the variation of rs34445363 (GA vs. GG, OR = 1.73, 95%CI: 1.04–2.86, p = 0.034) and rs77941834 (TA vs. TT, OR = 1.88, 95%CI: 1.06–3.34, p = 0.032) were associated with LC risk in the codominant model among female participants. Our study is the first to find that COL6A4P2 gene polymorphism is associated with LC risk in the Chinese Han population. Our study provides a basic reference for individualized LC prevention.

scholarly journals Impact of COL6A4P2 gene polymorphisms on the risk of lung cancer in a Chinese Han population

2020 ◽  
Author(s):  
Ying Duan ◽  
Gaowen Liu ◽  
Fanglin Niu ◽  
Jing Li ◽  
Mengdan Yan ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Odds Ratio ◽  
Gene Polymorphisms ◽  
Additive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Codominant Model ◽  
Insight Into

Abstract Background The aim of this study was to investigate the effects of COL6A4P2 polymorphisms on lung cancer (LC) in Chinese Han population.Methods To examine whether variants of COL6A4P2 contribute to LC, five single nucleotide polymorphisms (SNPs) of COL6A4P2 were genotyped by Agena MassARRAY in 510 LC patients and 495 controls. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression.Results We found that COL6A4P2 rs34445363 significantly increased the risk of LC in the alleles model (OR = 1.26, 95%CI: 1.01 - 1.58, p = 0.038). And rs34445363 also increased the LC risk under the log-additive model (OR = 1.26, 95%CI: 1.01 - 1.58, p = 0.041) with the multigene model analysis. Further stratification analysis showed that rs34445363 increased the LC risk under the log-additive model (OR = 1.42, 95%CI: 1.03 - 1.95, p = 0.033) in people aged ≤ 61; and rs61733464 was associated with a decreased LC risk in the log-additive model (OR = 0.72, 95%CI: 0.52 - 0.99, p = 0.048) in people aged ≤ 61. We also found that the mutations of rs34445363 and rs77941834 were associated with increased LC risk in the codominant model (rs34445363, GA vs. GG, OR = 1.73, 95%CI: 1.04 - 2.86, p = 0.034; rs77941834, TA vs. TT, OR = 1.88, 95%CI: 1.06 - 3.34, p = 0.032) in females.Conclusions This study provided an evidence for polymorphisms of COL6A4P2 gene associated to the development of LC, also a new insight into etiology of LC.

scholarly journals Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population

2019 ◽  
Vol 44 (4) ◽  
pp. 810-822
Author(s):  
Gang Jin ◽  
Yan Liang ◽  
Xiaohui Yan ◽  
Linping Zhang ◽  
Zhenjiang Li ◽  
...  
Keyword(s):  
Association Studies ◽  
Immunoglobulin A ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Background/Aims: The association between ACYP2(Acylphosphatase 2) polymorphisms and immunoglobulin A nephropathy (IgAN) risk in the Chinese Han population remains unclear. We aimed to evaluate the association between ACYP2 polymorphisms and IgAN risk by performing a case-control study. Methods: Eleven ACYP2 single nucleotide polymorphisms (SNPs) from 416 IgAN patients and 495 healthy controls were genotyped using the Sequenom MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated to evaluate the association of ACYP2 polymorphisms with IgAN risk. Results: We observed that rs843720 was significantly associated with an increased risk of IgAN (allele G: OR = 1.23, 95% CI: 1.01–1.49, p = 0.036; dominant model: OR = 1.55, 95% CI: 1.01–2.37, p =0.044; log-additive model: OR = 1.43, 95% CI: 1.04–1.95, p = 0.026) before Bonferroni correction. The SNP rs12615793 was also significantly associated with an increased IgAN risk in the recessive model (OR = 3.33, 95% CI: 1.05–10.51, p = 0.042) before Bonferroni correction. Conclusion: These findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN. However, more functional and association studies with larger sample sizes should be performed to further validate our results in the future.

scholarly journals Analysis of Single Nucleotide Polymorphisms within ADAM12 and Risk of Knee Osteoarthritis in a Chinese Han Population

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lin Wang ◽  
Lin Guo ◽  
Fengde Tian ◽  
Ruihu Hao ◽  
Tiejun Yang
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Population Based ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Genotype Frequencies ◽  
Increased Risk

Objective. Osteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a major role. One of the candidate genes of is the ADAM12 gene, but no consistency has been reached till now. This study aims to investigate the potential role of four single nucleotide polymorphisms (SNPs) of the ADAM12 gene in susceptibility to knee OA and its progression in Chinese Han population.Methods. The rs1278279, rs3740199, rs1044122, and rs1871054 polymorphisms were genotyped and compared in a population based cohort consisting of 164 OA subjects and 200 age- and gender-matched controls.Results. The SNP rs1871054 was found with increased risk of OA susceptibility in comparing the genotype frequencies between the case and control groups no matter for which model of comparison (allele level, dominant model, recessive model, and extreme genotype model). Additionally, the SNP rs1871054 was found associated with increased OA severity according to the K/L grade.Conclusion. In summary, we have identified that the rs1871054 variant within the ADAM12 gene is a risk factor for increased osteoarthritis susceptibility and severity.

scholarly journals Polymorphisms inC-Reactive ProteinandGlypican-5Are Associated with Lung Cancer Risk andGartrokine-1Influences Cisplatin-Based Chemotherapy Response in a Chinese Han Population

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Shuo Zhang ◽  
Asmitananda Thakur ◽  
Yiqian Liang ◽  
Ting Wang ◽  
Lei Gao ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Chinese Han Population ◽  
Chemotherapy Response ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Reactive Protein ◽  
Protective Allele ◽  
Potential Association ◽  
Gastrokine 1

The role of genetics in progression of cancer is an established fact, and susceptibility risk and difference in outcome to chemotherapy may be caused by the variation in low-penetrance alleles of risk genes. We selected seven genes (CRP, GPC5, ACTA2, AGPHD1, SEC14L5, RBMS3, andGKN1) that previously reported link to lung cancer (LC) and genotyped single nucleotide polymorphisms (SNPs) of these genes in a case-control study. A protective allele “C” was found in rs2808630 of the C-reactive protein (CRP). Model association analysis found genotypes “T/C” and “C/C” in the dominant model and genotype “T/C” in the overdominant model of rs2808630 associated with reduced LC risk. Gender-specific analysis in each model showed that genotypes “T/T” and “C/C” in rs2352028 of theGlypican 5(GPC5) were associated with increased LC risk in males. Logistic regression analysis showed “C/T” genotype carriers of rs4254535 in theGastrokine 1(GKN1) had less likelihood to have chemotherapy response. Our results suggest a potential association betweenCRPandGPC5variants with LC risk; variation inGKN1is associated with chemotherapy response in the Chinese Han population.

scholarly journals Association between IL‐1R2 polymorphisms and lung cancer risk in the Chinese Han population: A case–control study

2019 ◽  
Vol 7 (5) ◽  
pp. e644 ◽  
Author(s):  
Chaoying Wang ◽  
Chengsheng Zhang ◽  
Junnv Xu ◽  
Yongfu Li ◽  
Jie Wang ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Cancer Risk ◽  
Case Control Study ◽  
Lung Cancer Risk ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Control Study

scholarly journals Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Chenxi Liu ◽  
Songxin Yan ◽  
Haizhen Chen ◽  
Ziyan Wu ◽  
Liubing Li ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Genetic Model ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Association Analyses ◽  
Han Population ◽  
Increased Risk

ObjectivesSystemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.MethodA case-control study was performed in 343 patients with SSc and 694 ethnically matched healthy controls. SNPs in GTF2I, NFKB1, and TYK2 were genotyped using a Sequenom MassArray iPLEX system. Association analyses were performed using PLINK v1.90 software.ResultOur study demonstrated that the GTF2I rs117026326 T allele and the GTF2I rs73366469 C allele were strongly associated with patients with SSc (P = 6.97E-10 and P = 1.33E-08, respectively). Patients carrying the GTF2I rs117026326 TT genotype and the GTF2I rs73366469 CC genotype had a strongly increased risk of SSc (P = 6.25E-09 and P = 1.67E-08, respectively), and those carrying the NFKB1 rs1599961 AA genotype had a suggestively significantly increased risk of SSc (P = 0.014). Moreover, rs117026326 and rs73366469 were associated with SSc in different genetic models (additive model, dominant model, and recessive model) (P < 0.05) whereas rs1599961 was associated with SSc in the dominant genetic model but not in the addictive and recessive models (P = 0.0026). TYK2 rs2304256 was not significantly associated with SSc in this study.ConclusionGTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in this Chinese Han population. NFKB1 rs1599961 showed a suggestive association with SSc, and no significant association was found between TYK2 rs2304256 and SSc in this Chinese Han population.

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