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Investigation of CD28 Gene Polymorphisms in Patients with Sporadic Breast Cancer in a Chinese Han Population in Northeast China  [PDF]
Shuang Chen, Qing Zhang, Liming Shen, Yanhong Liu, Fengyan Xu, Dalin Li, Zhenkun Fu, Weiguang Yuan, Da Pang, Dianjun Li
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0048031
Abstract: Background CD28 is one of a number of costimulatory molecules that play crucial roles in immune regulation and homeostasis. Accumulating evidence indicates that immune factors influence breast carcinogenesis. To clarify the relationships between polymorphisms in the CD28 gene and breast carcinogenesis, a case-control study was conducted in women from Heilongjiang Province in northeast of China. Methodology/Principal Findings Our research subjects consisted of 565 female patients with sporadic breast cancer and 605 age- and sex-matched healthy controls. In total, 12 single nucleotide polymorphisms (SNPs) in the CD28 gene were successfully determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The relationship between the CD28 variants and clinical features, including histological grade, tumor size, lymph node metastasis, human epidermal growth factor receptor 2 (C-erbB2), estrogen receptor (ER), progesterone receptor (PR), and tumor protein 53 (P53) status were analyzed. A statistically significant association was observed between rs3116496 and breast cancer risk under different genetic models (additive P = 0.0164, dominant P = 0.0042). Different distributions of the rs3116496 ‘T’ allele were found in patients and controls, which remained significant after correcting the P value for multiple testing using Haploview with 10,000 permutations (corrected P = 0.0384). In addition, significant associations were observed between rs3116487/rs3116494 (D’ = 1, r2 = 0.99) and clinicopathological features such as C-erbB2 and ER status, in breast cancer patients. Conclusions/Significance Our findings indicate that CD28 gene polymorphisms contribute to sporadic breast cancer risk and have a significant association with clinicopathological features in a northeast Chinese Han population.
Association of OX40L Polymorphisms with Sporadic Breast Cancer in Northeast Chinese Han Population  [PDF]
Yuan Weiguang, Li Dalin, Xu Lidan, Cai Yonggang, Chen Shuang, Liu Yanhong, Xu Fengyan, Fu Zhenkun, Pang Da, Li Dianjun
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0041277
Abstract: OX40L is an important costimulatory molecule that plays a crucial role in the regulation of T-cell-mediated immunity. The interaction of OX40-OX40L is involved in the pathogenesis of multiple autoimmune and inflammatory diseases such as systemic lupus erythematosus (SLE), carotid artery disease and cancer. The genetic variants of OX40L can increase the risk of SLE, atherosclerosis, systemic sclerosis and show gender-specific effects in some studies. Accordingly, we performed a case-control study including 557 breast cancer patients and 580 age- and sex-matched healthy controls to investigate whether single nucleotide polymorphisms (SNPs) in the OX40L gene are associated with sporadic breast cancer susceptibility and progression in Chinese Han women. Seven SNPs of OX40L (rs6661173, rs1234313, rs3850641, rs1234315, rs12039904, rs844648 and rs10912580) were genotyped with the method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results indicated that rs3850641G allele could increase the susceptibility to breast cancer (P = 0.009662), even in the validation study (P = 0.0001515). A significant association between rs3850641 and breast cancer risk was observed under the additive model and dominant model (P = 0.01042 and 0.01942, respectively). The haplotype analysis showed that haplotype Ars844648Ars10912580 was significantly associated with breast cancer, even after 10,000 permutations for haplotypes in block only (P = 0.0003). In clinicopathologic features analysis, the association between rs1234315 and C-erbB2 status was significant (P = 0.02541). Our data primarily indicates that rs3850641 of OX40L gene contributes to sporadic breast carcinogenesis in a northeast Chinese Han population.
Association of TNF-α, TNFRSF1A and TNFRSF1B Gene Polymorphisms with the Risk of Sporadic Breast Cancer in Northeast Chinese Han Women  [PDF]
Fengyan Xu, Guiqin Zhou, Shaoli Han, Weiguang Yuan, Shuang Chen, Zhenkun Fu, Dalin Li, Hua Zhang, Dianjun Li, Da Pang
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0101138
Abstract: Background The interaction of tumor necrosis factor-α (TNF-α) with its receptors: TNFRSF1A and TNFRSF1B is critical for the promotion of tumor growth, invasion and metastasis. To better understand the roles of single nucleotide polymorphisms (SNPs) in the TNF-α, TNFRSF1A and TNFRSF1B genes in the development of breast cancer, we explored the associations between SNPs in these three genes and breast cancer susceptibility in northeast Chinese Han women. Methodology/Principal Findings This case-control study was conducted among 1016 breast cancer patients and 806 age-matched healthy controls. Seven SNPs in the TNF-α (rs1800629, rs361525), TNFRSF1A (rs767455, rs4149577 and rs1800693) and TNFRSF1B (rs1061622 and rs1061624) genes were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. In TNFRSF1B, the rs1061622 GT genotype and the G allele conferred a reduced susceptibility to breast cancer (P = 0.000662, OR = 0.706, 95% CI: 0.578–0.863; P = 0.002, OR = 0.769, 95% CI; 0.654–0.905, respectively). Moreover, the AG genotype, the AA genotype and the A allele in rs1061624 conferred an increased risk of breast cancer (P = 0.007, OR = 1.470, 95% CI:1.112–1.943; P = 0.00109, OR = 1.405 95% CI:1.145–1.724; P = 0.001, OR = 1.248 95% CI:1.092–1.426, respectively). These two SNPs also had associations with breast cancer risk under the dominant model. In haplotype analysis, the CTA (rs767455 C-rs4149577 T-rs1800693 A) haplotype in TNFRSF1A and the TA (rs1061622 T-rs1061624 A) haplotype in TNFRSF1B had higher frequencies in breast cancer patients (P = 0.00324; P = 0.000370, respectively), but the frequency of GG (rs1061622 G-rs1061624 G) haplotype in TNFRSF1B was lower in breast cancer patients (P = 0.000251). The associations of the three haplotypes remained significant after correcting for multiple testing. In addition, significant associations were also observed between TNFRSF1A polymorphisms and lymph node metastasis, P53, estrogen receptor (ER) and progesterone receptor (PR) statuses. Conclusions Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs in TNFRSF1A are associated with the clinical features of breast cancer.
HVEM Gene Polymorphisms Are Associated with Sporadic Breast Cancer in Chinese Women  [PDF]
Dalin Li, Zhenkun Fu, Shuang Chen, Weiguang Yuan, Yanhong Liu, Liqun Li, Da Pang, Dianjun Li
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0071040
Abstract: As a costimulatory molecule, Herpesvirus entry mediator (HVEM) can bind with several costimulatory members, thus HVEM plays different roles in T cell immunity. HVEM and its ligands have been involved in the pathogenesis of various autoimmune, inflammatory diseases and tumors. In the current study, we conducted a case-control study comparing polymorphisms of HVEM and breast cancer. Subjects included 575 females with breast cancer and 604 age-matched healthy controls. Six HVEM SNPs (rs2281852, rs1886730, rs2234163, rs11573979, rs2234165, and rs2234167) were genotyped by PCR-RFLP. The results showed significant differences in genotypes and alleles between rs1886730 and rs2234167 (P<0.05). One haplotype (CTGCGG) that was associated with breast cancer was found via haplotype analysis. Our research also indicated an association between polymorphisms of HVEM and clinicopathologic features, including lymph node metastasis, estrogen receptor, progesterone receptor and P53. Our results primarily indicate that polymorphisms of the HVEM gene were associated with the risk of sporadic breast cancer in northeast Chinese females.
B7-H4 gene polymorphisms are associated with sporadic breast cancer in a Chinese Han population
Jie Zhang, Mingyan Zhang, Wei Jiang, Lihong Wang, Zhenkun Fu, Dalin Li, Da Pang, Dianjun Li
BMC Cancer , 2009, DOI: 10.1186/1471-2407-9-394
Abstract: We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine the genotypes.Our data indicated that, compared with the common genotype and allele of each SNP, the rs10754339 AG genotype and G allele showed a significantly increased risk of breast cancer (OR = 1.455, 95% CI 1.119-1.892; OR = 1.325, 95% CI 1.073-1.637, respectively). The rs10801935 CC genotype, the rs3738414 AA genotype and the rs3738414 A allele were associated with a significantly decreased risk of breast cancer (OR = 0.328, 95% CI 0.145-0.739; OR = 0.412, 95% CI 0.203-0.835; OR = 0.698, 95% CI 0.564-0.864, respectively). Additionally, the rs10754339 GG genotype was significantly associated with lymph node metastasis and PR status, and the G allele and the AG genotype were respectively associated with lymph node metastasis and ER status. In haplotype analysis, we observed that compared with the AAG haplotype, the AAA haplotype showed a significantly decreased risk of breast cancer (OR = 0.689, 95% CI 0.539-0.881), but the GAG haplotype was associated with a significantly increased risk of breast cancer (OR = 1.511, 95% CI 1.125-2.031). And the AAA and the GCG haplotypes also respectively have significant influences on tumor size and ER status.These results suggest that B7-H4 gene polymorphism may contribute to the sporadic breast cancer risk and prognosis in Chinese Han women.Breast cancer is one of the most common malignant tumors in females, and its etiology as well as prognosis is extremely complex. The immune system, which plays an important role of immune surveillance in finding and eliminating cancer cells, can influence the development and growth of breast cancer. The central regulator of anti-tum
Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population
Lihong Wang, Dalin Li, Zhenkun Fu, Heng Li, Wei Jiang, Dianjun Li
BMC Cancer , 2007, DOI: 10.1186/1471-2407-7-173
Abstract: We genotyped CTLA-4 variants (-1661 G/A, -658 T/C, -318 T/C, +49 G/A and CT60 G/A) to tag all common haplotypes (≥ 1% frequency) in 117 Chinese breast cancer cases and 148 age/sex matched healthy individuals. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Data was analyzed using the Chi-square test and Haploview software.The frequency of CTLA-4 -1661G allele, -318T allele and CT60G allele carriers was significantly higher in patients than in controls (P = 0.0057, OR 1.91, 95% CI 1.21–3.02; P = 0.0031, OR 2.39, 95% CI 1.34–4.27; P = 0.023, OR 1.52, 95% CI 1.06–2.17, respectively). The -658T allele carrier frequency was significantly lower than in controls (P = 0.0000082, OR 0.17, 95% CI 0.08–0.37), whereas the +49A allele was significantly associated with tumor size in patients (P = 0.0033). Two common CTLA-4 haplotypes, ATCGA and ATCAG, were higher in healthy controls than patients (P = 0.0026, OR 0.17, 95% CI 0.05–0.54; P = 0.034, OR 0.12, 95% CI 0.02–0.92, respectively). A strong association was observed between tumor size and the ACCAA, ACCAG and ACCGA haplotypes (P = 0.0032, P = 0.0000031 and P = 0.017).These results suggest that polymorphisms of the CTLA-4 gene may modify individual susceptibility to and progression of breast cancer in Chinese Han women.Breast cancer is the most common malignancy in women worldwide and its rate is increasing in both developed and developing countries. The etiology of breast cancer is complicated and not completely known, but recent studies have focused on the role of the immune system. During the development of breast cancer, innate and adaptive responses are carefully orchestrated through soluble and membrane-bound regulators, resulting in the deployment of the most suitable effectors for controlling the growth of tumor. However, the biological importance of these responses is not fully understood [1]. The most significant anti-tumor response is cell-media
Analysis of single nucleotide polymorphisms of CD40 gene of Han people with Kawasaki disease in Shanghai

蒲 田,谢 静,杨健萍,
PU Tian
, XIE Jing, YANG Jian-ping, et al

- , 2015, DOI: 11.3969/j.issn.1674-8115.2015.02.016
Abstract: 目的 探讨CD40基因c.4833 C>T和c.5077 T>C多态性与川崎病发生的关系,探索川崎病发生的可能分子机制。方法 选取81例诊断明确的汉族川崎病患儿(病例组)为研究对象,以96名汉族健康儿童作为对照组。PCR扩增CD40基因的启动子及全部外显子序列,所有扩增片段均进行双向测序。将所测CD40基因序列与GenBank中的已知序列(NG007279.1)通过BLAST程序对比,检出可能存在的单核苷酸多态性(SNP)。结果 在病例组和对照组中检出CD40基因启动子序列上2个已报道SNP,分别为rs752118和rs1883832,且两组2个SNP的等位基因频率的差异均无统计学意义(P=0.362, P=0.769)。结论 CD40基因启动子序列上的2个SNP对川崎病的发生及预后无明显影响,可视为中国汉族人群CD40基因的正常SNP。
: Objective To investigate the relationship of the incidence of Kawasaki disease and c.4833 C>T and c.5077 T>C polymorphisms of CD40 gene and to explore the possible molecular biological pathogenesis of Kawasaki disease. Methods Eighty-one children who were diagnosed with Kawasaki disease were selected as study subjects (case group) and 96 healthy children were chosen as controls (control group). PCR was adopted to amplify promoters and all exons of CD40 gene. Paired-end sequencing was performed for all amplified fragments. Sequenced CD40 gene was compared with the known sequence in GenBank (NG 007279-1) by the BLAST program and possible single nucleotide polymorphisms (SNP) were screened. Results Two reported SNP in the sequence of promoters of CD40 gene, i.e. rs752118 and rs1883832, were detected in both case group and control group. The differences of frequencies of alleles of two SNPs between two groups were not statistically significant (P=0.362, P=0.769). Conclusion Two SNPs in the sequence of promoters of CD40 gene have no significant effect on the incidence and prognosis of Kawasaki disease and can be regarded as normal SNPs of Chinese Han people
Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
María Teruel, Carmen P Simeon, Jasper Broen, Madelon C Vonk, Patricia Carreira, Maria Camps, Rosa García-Portales, Esmeralda Delgado-Frías, Maria Gallego, Gerard Espinosa, the Spanish Scleroderma Group, Lorenzo Beretta, Paolo Airó, Claudio Lunardi, Gabriela Riemekasten, Torsten Witte, Thomas Krieg, Alexander Kreuter, J?rg HW Distler, Nicolas Hunzelmann, Bobby P Koeleman, Alexandre E Voskuyl, Annemie J Schuerwegh, Miguel González-Gay, Timothy RDJ Radstake, Javier Martin
Arthritis Research & Therapy , 2012, DOI: 10.1186/ar3890
Abstract: In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes.No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis.Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue characterized by excessive fibrosis of the dermis and vascular damage. It also affects internal organs, such as the lung, gastrointestinal, and vascular systems [1]. SSc is a complex polygenic disease in which environmental and genetic factors are involved in the susceptibility to this disease. Candidate gene and genome-wide association studies (GWASs) performed in SSc have identified new loci implicated in the susceptibility to SSc [2]. Nevertheless, the complete genetic components of SSc remain unknown.CD40 is a member of the tumor necrosis factor receptor superfamily (TNFR), and it is expressed on the surface of several immune and nonhematopoietic cells, such as B cells, macrophages, dendritic cells, fibroblasts, and endothelial cells in certain pathogenic conditions [3]. Its ligand, CD40LG (CD154), is expressed mainly on the surface of CD4+ T cells. CD40-CD40LG interactions are necessary for the activation of both humoral and cellular immune responses [3]. The CD40-CD40LG pathway has be
Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer
José da Silva Nogueira Junior, Fernando Augusto de Lima Marson, Carmen Sílvia Bertuzzo
BMC Research Notes , 2012, DOI: 10.1186/1756-0500-5-676
Abstract: In this study we included a total of 204 subjects, 70 with BC (33 with SBC, and 37 with HBC) and 134 healthy subjects (controls). The Polymerase Chain Reaction was the method used.Results demonstrated a high frequency of the 3R allele at BC, SBC, and HBC groups. The frequency of genotype 2R/3R was significantly higher in BC group. This work showed association between the 2R/3R variants (OR = 4.14, CI95% = 1.77-9.71) in the development of SBC, and 2R/2R (OR = 0.233, CI95% = 1.63-7.65) and 2R/3R (OR = 3.53, CI95% = 0.06-0.81) for developing HBC. To BC, there was association with the genotype 2R/3R (OR: 3.79, CI95% = 2.03-7.08).Our results show relation to the development of BC in association with the analyzed polymorphisms.Breast cancer (BC) is a genetic disease characterized by an out of control growing breast cells, resulting in cellular proliferation, invasion of surrounding tissues and other organs, with possibility of metastasis [1]. BC is the second leading cancer in the population, it is the most common cancer among women, and the second leading cause of death within them, with approximately 460.000 deaths/year worldwide [1,2].In recent years risk factors for BC have been identified, although the etiology of the disease is still not understood. Risk factors that contribute to the development of BC include age, ethnicity, reproduction, some kind of hormones, lifestyle, bone density, genetic factors [3] and family history [4]. The majority of hereditary breast cancer (HBC) susceptibility can be attributed to germline mutations of to Breast Cancer 1 and Breast Cancer 2 genes (BRCA1 and BRCA2), which are responsible for 30-40% of HBC. Clinically, the basis of HBC is established at an early age, family history, bilateral BC, male BC, ovarian and/or tube cancer, and lower survival when compared to the sporadic form [5].Most of BC are sporadic (SBC), resulting from gene mutations, uncorrected, located in somatic cells, and unrelated to germline mutation. Risk factors
Association Analysis of IL-17A and IL-17F Polymorphisms in Chinese Han Women with Breast Cancer  [PDF]
Lihong Wang, Yongdong Jiang, Youxue Zhang, Yuwen Wang, Sunhui Huang, Zhihua Wang, Baoling Tian, Yue Yang, Wei Jiang, Da Pang
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0034400
Abstract: Background Research into the etiology of breast cancer has recently focused on the role of the immunity and inflammation. The proinflammatory cytokines IL-17A and IL-17F can mediate inflammation and cancer. To evaluate the influences of IL-17A and IL-17F gene polymorphisms on the risk of sporadic breast cancer, a case-control study was conducted in Chinese Han women. Methodology and Principal Findings We genotyped three single-nucleotide polymorphisms (SNPs) in IL-17A (rs2275913, rs3819025 and rs3748067) and five SNPs in IL-17F (rs7771511, rs9382084, rs12203582, rs1266828 and rs763780) to determine the haplotypes in 491 women with breast cancer and 502 healthy individuals. The genotypes were determined using the SNaPshot technique. The differences in the genotypic distribution between breast cancer patients and healthy controls were analyzed with the Chi-square test for trends. For rs2275913 in IL-17A, the frequency of the AA genotype was higher in patients than controls (P = 0.0016). The clinical features analysis demonstrated significant associations between IL-17 SNPs and tumor protein 53 (P53), progesterone receptor (PR), human epidermal growth factor receptor 2 (Her-2) and triple-negative (ER-/PR-/Her-2-) status. In addition, the haplotype analysis indicated that the frequency of the haplotype Ars2275913Grs3819025Grs3748067, located in the IL-17A linkage disequilibrium (LD) block, was higher in patients than in controls (P = 0.0471 after correction for multiple testing). Conclusions and Significance Our results suggested that SNPs in IL-17A but not IL-17F were associated with the risk of breast cancer. Both IL-17A and IL-17F gene polymorphisms may provide valuable information for predicting the prognosis of breast cancer in Chinese women.
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