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 STAT4 gene polymorphism and type 2 diabetes risk in Chinese Han population

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Jiaqi Cui ◽  
Rui Tong ◽  
Jing Xu ◽  
Yanni Tian ◽  
Juan Pan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Additive Models ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Potential Association ◽  
New Ideas ◽  
Stratified Analysis

Abstract Background Evidence from genetic epidemiology indicates that type 2 diabetes (T2D) has a strong genetic basis. Activated STAT4 has an inflammatory effect, and STAT4 is an important mediator of inflammation in diabetes. Our study aimed to study the association between STAT4 single nucleotide polymorphisms (SNPs) and T2D susceptibility in Chinese Han population. Methods We conducted a 'case–control' study among 500 T2D patients and 501 healthy individuals. 5 candidate STAT4 SNPs were successfully genotyped. The association between SNPs and T2D susceptibility under different genetic models was evaluated by logistic regression analysis. ‘SNP-SNP’ interaction was analyzed and completed by multi-factor dimensionality reduction (MDR). Finally, we evaluated the differences of clinical characteristics under different genotypes by one-factor analysis of variance. Results The overall results showed that STAT4 rs3821236 was associated with increasing T2D risk under allele (OR 1.23, p = 0.020), homozygous (OR 1.51, p = 0.025), dominant (OR 1.36, p = 0.029), and additive models (OR 1.23, p = 0.020). The results of stratified analysis showed that rs3821236, rs11893432, and rs11889341 were risk factors for T2D among participants ≤ 60 years old. Only rs11893432 was associated with increased T2D risk among female participants. There was also a potential association between rs3821236 and T2D with nephropathy risk. STAT4 rs11893432, rs7574865 and rs897200 were significantly associated with lysophosphatidic acid, cystatin C and thyroxine t4, respectively. Conclusion The genetic polymorphisms of STAT4 is potentially associated with T2D susceptibility of Chinese population. In particular, rs3821236 is significantly associated with T2D risk both in the overall and several subgroup analyses. Our study may provide new ideas for T2D individualized diagnosis/protection.

scholarly journals A new discovery of genetic polymorphisms of important genes in WNT pathway (LPR5 and AXIN1) associated with osteoporosis susceptibility in Chinese Han population

2021 ◽  
Author(s):  
Yongsheng Cui ◽  
Xinglv Hu ◽  
Chen Zhang ◽  
Kunzheng Wang
Keyword(s):  
Protective Factor ◽  
Critical Role ◽  
Chinese Han Population ◽  
Candidate Snps ◽  
Classical Pathway ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Clinical Indicators ◽  
Han Population ◽  
Potential Association

Abstract Background: genetic factors play a critical role in the pathogenesis of osteoporosis. The imbalance of WNT/β-catenin will cause the occurrence of osteoporosis. LPR5 and AXIN1 play an important role in the classical Wnt/β-catenin signaling pathway. Our study was aimed to determine the association between 5 candidate single nucleotide polymorphisms (SNPs) of LPR5 or AXIN1 and osteoporosis susceptibility in Chinese Han population. Methods: the association analysis was conducted between 5 candidate SNPs and osteoporosis susceptibility among 1198 participants. Agena MassARRAY was used to genotype SNPs. The association between SNPs and osteoporosis susceptibility in different genetic models was analyzed by logistic regression analysis. Multi-factor dimension reduction (MDR) was used to analyze the interaction of SNP-SNP in the osteoporosis risk. The difference of clinical indicators under different genotypes was completed by one-way analysis of variance.Results: we found that LPR5 rs11228240, AXIN1 rs2301522 and rs9921222 were significantly associated with the osteoporosis susceptibility. The results of subgroup analysis showed that LPR5 rs11228240 (protective factor) and AXIN1 rs2301522 (risk factor) were significantly associated with the susceptibility of osteoporosis among participants who were age > 60 years, female or BMI≤24; AXIN1 rs9921222 significantly increased the risk of osteoporosis among participants with BMI≤24. The results of Haplotype analysis showed that Ars2301522Crs9921222 could increase the susceptibility of osteoporosis. We also found that LRP5 rs11228219, AXIN1 rs2301522 and rs9921222 showed a potential association with some clinical indicators of osteoporosis.Conclusion: the SNPs of LPR5 and AXIN1 which are important genes in WNT classical pathway, have a potential association with osteoporosis susceptibility in 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.

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 Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility

2020 ◽  
Author(s):  
Miao-miao Zhang ◽  
Guo Chen ◽  
Yu Wang ◽  
Shou quan Wu ◽  
Andrew J Sandford ◽  
...  
Keyword(s):  
Airway Epithelium ◽  
Association Studies ◽  
Chinese Han Population ◽  
Binary Logistic Regression Analysis ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Asthma Susceptibility ◽  
Asthma Risk

Abstract Background: As a main line of defense of the respiratory tract, the airway epithelium plays an important role in the pathogenesis of asthma. CDHR3 and EMSY were reported to be expressed in the human airway epithelium. Although previous genome-wide association studies found that the two genes were associated with asthma susceptibility, similar observations have not been made in the Chinese Han population. Methods: A total of 300 asthma patients and 418 healthy controls unrelated Chinese Han individuals were enrolled. Tag-single nucleotide polymorphisms (Tag-SNPs) were genotyped and the associations between SNPs and asthma risk were analyzed by binary logistic regression analysis. Results: After adjusting for confounding factors, the A allele of rs3847076 in CDHR3 was associated with increased susceptibility to asthma (OR = 1.407, 95% CI: 1.030-1.923). For the EMSY gene, the T alleles of both rs2508746 and rs12278256 were related with decreased susceptibility to asthma (additive model: OR = 0.718, 95% CI: 0.536-0.961; OR = 0.558, 95% CI: 0.332-0.937, respectively). In addition, the GG genotype of rs1892953 showed an association with increased asthma risk under the recessive model (OR = 1.667, 95% CI: 1.104-2.518) and the GATCTGAGT haplotype in EMSY was associated with reduced asthma risk ( P = 0.037). Conclusions: This study identified novel associations of rs3847076 in CDHR3 , as well as rs1892953, rs2508746 and rs12278256 in EMSY with adult asthma susceptibility in the Chinese Han population. Our observations suggest that CDHR3 and EMSY may play important roles in the pathogenesis of asthma in Chinese individuals. Further study with larger sample size is needed.

scholarly journals IL-1R2 Polymorphisms and its Interaction Associates With Osteoporosis Susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  
Keyword(s):  
Negative Regulator ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Testing Accuracy ◽  
Relationship Of ◽  
The Relationship ◽  
Osteoporosis Risk

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.

scholarly journals The rs28757157 and rs59429575 polymorphisms in CYP19A1 are associated with lung cancer in Chinese Han population

2020 ◽  
Author(s):  
Chan Zhang ◽  
Yujing Cheng ◽  
Wanlu Chen ◽  
Qi Li ◽  
Run Dai ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Cancer Risk ◽  
Lung Cancer Risk ◽  
Genetic Model ◽  
Protective Role ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Lung Cancer Patients ◽  
Functional Studies

Abstract Background: Lung cancer is the leading cause of cancer death globally. Recent studies have revealed that the CYP19A1 gene played a crucial role in cancer initiation and development. The aim of this study was to assess the association of CYP19A1 genetic polymorphisms with the risk of lung cancer in the Chinese Han population. Method: This study randomly recruited 507 lung cancer patients and 505 healthy controls. The genotypes of four SNPs of CYP19A1 gene were identified by Agena MassARRY technique. Genetic model analysis was used to assess the association between genetic variation and lung cancer risk. Odds ratio (OR) values and 95% confidence intervals (CIs) were provided for the evaluation of the lung cancer risk effect. Results: Rs28757157 and rs59429575 polymorphisms of CYP19A1 were significantly correlated with the risk of lung cancer. In stratified analysis, rs28757157 was associated with increased cancer risk in smokers and individuals aged ≤ 60 years. Meanwhile, rs59429575 was identified as a risk biomarker in females and lung adenocarcinoma patients (p < 0.05). While rs28757157 exerted a protective role among people with a BMI greater than 24 (p = 0.033). Conclusions: This study identified two new SNPs (rs28757157 and rs59429575) of CYP19A1 associated with lung cancer in Chinese Han population. These findings provide data support for further functional studies of CYP19A1 in lung cancer.

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