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Association of polymorphisms of interleukin-18 gene promoter region with polycystic ovary syndrome in chinese population
Yan Yang, Jie Qiao, Mei-zhi Li
Reproductive Biology and Endocrinology , 2010, DOI: 10.1186/1477-7827-8-125
Abstract: To investigate the polymorphisms of the IL-18 gene promoters with PCOS, two single nucleotide polymorphisms (SNPs) in the promoter of the IL-18 gene (at positions -607C/A and -137G/C) in 118 Chinese women with PCOS and 79 controls were evaluated using polymerase chain reaction (PCR).No significant differences were found in the genotype distribution, allele frequency and haplotype frequency between the PCOS and control groups. Further analysis demonstrated a relationship between IL-18 gene promoter polymorphisms and PCOS insulin resistance (IR). Regarding the -137 allele frequency, G and C allele frequencies were 93.5% and 6.5%, respectively, in the PCOS with IR patients; G and C allele frequencies were 85.4% and 14.6%, respectively, in PCOS patients without IR (chi2 = 3.601, P = 0.048).The presence of a polymorphism in the IL-18 gene was found to have no correlation with the occurrence of PCOS. Carriage of the C allele at position -137 in the promoter of the IL-18 gene may play a protective role from the development of PCOS IR.Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder of women in their reproductive years, with prevalence between 5% and 10% of the general population [1,2]. The etiology of PCOS remains controversial, but there is evidence suggesting that genetic factors may play an important role [3,4]. Studies have shown that a common polymorphism of the interleukin-1α gene (IL) is associated with the presence of PCOS [5], and a polymorphism of the IL-6 promoter is associated with clinical characteristics of women affected by PCOS [6].Three single nucleotide polymorphisms (SNPs) in the promoter of the IL-18 gene at positions -656G/T, -607C/A and -137G/C have been identified; the two SNPs at positions -607C/A and -137G/C are predicted to influence the expression of IL-18 and, potentially, interferon -γ (IFN)[7].In order to investigate the possible roles of IL-18 in the pathogenesis of PCOS and its relationship with insulin resistance
Clinical relevance of the interleukin 10 promoter polymorphisms in Chinese Han patients with major trauma: genetic association studies
Ling Zeng, Wei Gu, Kehong Chen, Dongpo Jiang, Lianyang Zhang, Dingyuan Du, Ping Hu, Qing Liu, Suna Huang, Jianxin Jiang
Critical Care , 2009, DOI: 10.1186/cc8182
Abstract: A total of 308 patients with major trauma were included in this study. The genotypes of polymorphisms -1082, -819 and -592 were determined by polymerase chain reaction-restriction fragment length polymorphism. The IL-10 levels in the supernatants were determined with enzyme-linked immunoabsorbent assay.The -1082A and -592A alleles were significantly associated with lower lipopolysaccharide-induced IL-10 production in an allele-dose dependent fashion. There was no significant difference for the -819 polymorphism. Except for the -1082 polymorphism, the -819 and -592 polymorphisms were not significantly associated with sepsis morbidity rate and MOD scores.Our results further confirm the functionality of the IL-10 promoter single nucleotide polymorphisms in relation to IL-10 production. They also suggest that individual difference in IL-10 production in trauma patients might be at least in part related to genetic variations in the IL-10 promoter region.Trauma, a major public health problem worldwide, ranks as the fourth leading cause of death among all diseases [1]. One of the most serious complications of major trauma is the sequential dysfunction of vital organs, which is associated with post-traumatic sepsis in the majority of cases [2]. Therefore, preventing sepsis and subsequent organ dysfunction is crucial in the treatment of surviving patients with major trauma. It has been demonstrated that inappropriate immune inflammatory response contributes to the development of sepsis and multiple organ dysfunction syndrome (MODS) in major trauma patients [3,4]. Increasing evidence suggests that genetic variants, particularly single nucleotide polymorphisms (SNPs), are critical determinants for inter-individual differences in both inflammatory responses and clinical outcome in trauma patients [5,6]. Delineating the variation in genes and associated differences in response to trauma may contribute to the development of new genetically tailored diagnostic and therapeutic inte
Association of Interleukin-18 Gene Promoter ?607 C>A and ?137G>C Polymorphisms with Cancer Risk: A Meta-Analysis of 26 Studies  [PDF]
Xin Yang, Man-Tang Qiu, Jing-Wen Hu, Feng Jiang, Ming Li, Jie Wang, Qin Zhang, Rong Yin, Lin Xu
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0073671
Abstract: Background Evidence suggest that IL-18 gene polymorphisms may be risk factors for several cancers. Increasing studies investigating the association between IL-18 gene promoter polymorphisms (?607 C>A and ?137G>C) and cancer risk have yielded conflicting results. Methodology/Principal Findings We performed a meta-analysis of 26 studies including 4096 cases and 5222 controls. We assessed the strength of the association of IL-18 gene promoter ?607 C>A and ?137G>C polymorphisms with cancer risk and performed sub-group analyses by cancer types, ethnicities, source of controls and sample size. The pooled results revealed a significant increased risk of cancer susceptibility for ?607 C>A (CA vs. CC: OR = 1.19, 95%CI: 1.04, 1.37, Pheterogeneity = 0.033; CA/AA vs. CC: OR = 1.17, 95% CI: 1.01, 1.34, Pheterogeneity = 0.007), but no significant association for ?137 G>C was observed with overall cancer risk. Sub-group analyses revealed that an increased risk of nasopharyngeal carcinoma was both found for ?607 C>A (CA/AA vs. CC: OR = 1.32, 95% CI: 1.04, 1.69, Pheterogeneity = 0.823) and ?137G>C (GC/CC vs. GG: OR = 1.57, 95%CI: 1.26, 1.96, Pheterogeneity = 0.373). Consistent with the results of the genotyping analyses, the ?607A/?137C and ?607C/?137C haplotypes were associated with a significantly increased risk of nasopharyngeal carcinoma as compared with the ?607C/?137G haplotype (?607A/?137C vs. ?607C/?137G: OR = 1.26, 95%CI: 1.13, 1.40; Pheterogeneity = 0.569; ?607C/?137C vs. ?607C/?137G: OR = 1.14, 95%CI: 1.03, 1.27; Pheterogeneity = 0.775). As for gastrointestinal cancer, we also found that ?607 C>A polymorphism was significantly associated with increased cancer risk (CA/AA vs. CC: OR = 1.25, 95% CI: 1.05, 1.50, Pheterogeneity = 0.458). Further sub-group analysis revealed that ?137G>C polymorphism contributed to cancer risk in Asians but not in Caucasians (GC/CC vs. GG: OR = 1.31, 95%CI: 1.05, 1.64, Pheterogeneity<0.001). Conclusions The meta-analysis results suggest that IL-18 gene promoter ?607 C>A polymorphism is significantly associated with overall cancer risk, especially in nasopharyngeal carcinoma and gastrointestinal cancer; and the ?137 G>C polymorphism is associated with increased overall cancer risk in Asian populations and also significantly increases the risk of nasopharyngeal carcinoma.
Association of Short Tandem Repeat Polymorphism in the Promoter of Prostate Cancer Antigen 3 Gene with the Risk of Prostate Cancer  [PDF]
Wu Zhou, Zhanguo Chen, Wangqiang Hu, Mo Shen, Xiaoxia Zhang, Chengdi Li, Zhiliang Wen, Xiuling Wu, Yuanping Hu, Xiaohua Zhang, Xiuzhi Duan, Xiucui Han, Zhihua Tao
PLOS ONE , 2011, DOI: 10.1371/journal.pone.0020378
Abstract: Background PCA3 (prostate cancer antigen 3) gene is one of the most prostate cancer-specific genes at present. Consequently, the prostate-specific expression and the sharp up-regulation of PCA3 mRNA in prostate cancer suggest a unique transcriptional regulation, which possibly can be attributed to promoter polymorphism. In our study, we evaluated whether there is polymorphism in PCA3 promoter region and also assess the association of the polymorphism with prostate cancer. Methodology/Principal Findings We designed a specific primer set to screen the promoter of PCA3 gene by polymerase chain reaction (PCR)-based cloning and sequencing with the DNA extracted from peripheral blood samples of prostate cancer (PCa) cases (n = 186) and healthy control cases (n = 135). Genotype-specific risks were estimated as odds ratios (ORs) with associated 95% confidence intervals (CIs) by chi-square test. Possible deviation of the genotype frequencies from controls and PCa cases expected under Hardy-Weinberg equilibrium was assessed by the chi-square test. Short tandem repeat polymorphism of TAAA was found in the promoter region of PCA3 gene, five polymorphisms and eight genotypes were identified. The eight genotypes were divided into three groups: ≤10TAAA, 11TAAA, ≥12TAAA. The group 11TAAA and ≥12TAAA were associated with higher relative risk for prostate cancer than group ≤10TAAA (OR = 1.76, 95%CI = 1.07–2.89[for group 11TAAA]; OR = 5.28, 95%CI = 1.76–15.89[for group ≥12TAAA]). Conclusions/Significance The presence of the (TAAA)n short tandem repeat polymorphisms in the PCA3 promoter region may be a risk factor for prostate cancer in the Chinese population.
Polymorphisms of interleukin-10 promoter are not associated with prognosis of advanced gastric cancer  [cached]
Jie Liu, Bao Song, Jia-Lin Wang, Zeng-Jun Li, Wan-Hu Li, Zhe-Hai Wang
World Journal of Gastroenterology , 2011,
Abstract: AIM: To evaluate the association between of the interleukin-10 (IL-10) promoter polymorphisms and survival of advanced gastric cancer (GC) patients.METHODS: The IL-10 (-1082, rs1800896; -819, rs1800871; and-592, rs1800896) genotypes in 234 patients with advanced gastric cancer and in 243 healthy controls were determined by polymerase chain reaction-restriction fragment length polymorphism assay. Odds ratios (OR) and 95% confidence intervals (CI) were calculated by unconditional logistic regression for the associations between IL-10 genotypes and the risk of GC. The Kaplan-Meier method with log-rank testing was used to evaluate the association between genotype and survival of the patients.RESULTS: The IL-10 -1082 G allele and GCC (-1082, -819 and -592) haplotype were associated with increased gastric cancer risks (OR 1.2, 95% CI 0.6-3.2, P = 0.007, for -1082 G allele, OR = 2.3, 95% CI, 1.2-4.1, P = 0.005, for GCC haplotype, respectively). However, none of the three IL-10 gene polymorphisms (-1082, -819 and -592) was correlated with gastric cancer survival (P > 0.05), and none of the genotypes of the three IL-10 sites was found as independent prognostic risk factors in the multivariate test.CONCLUSION: IL-10 gene promoter polymorphisms may not be associated with the prognosis of advanced gastric cancer.
Association of interleukin-10 gene polymorphisms with breast cancer in a Chinese population
Fanjun Kong, Jie Liu, Yongheng Liu, Bao Song, Hualing Wang, Wenchao Liu
Journal of Experimental & Clinical Cancer Research , 2010, DOI: 10.1186/1756-9966-29-72
Abstract: We genotyped 315 patients with breast cancer and 322 healthy control subjects for -1082A/G, -819T/C and -592A/C single nucleotide polymorphisms in the promoter region of the IL-10 gene by polymerase chain reactionerestriction fragment length polymorphism (PCR-RFLP).There were no significant differences in genotype, allele, or haplotype frequencies in all three loci between patients and healthy controls. Analysis of breast cancer prognostic and predictive factors revealed that the -1082AA genotype was associated with a significantly increased risk of lymph node (LN) involvement (P = 0.041) and larger tumor size (P = 0.039) at the time of diagnosis. Furthermore, in the haplotype analysis of IL-10 gene, we found that patients carrying ATA haplotype were in higher LN involvement (p = 0.022) and higher tumor stage(p = 0.028) of breast cancer at the time of diagnosis compared with others.Our findings suggest that IL-10 promoter polymorphisms participate in the progression of breast cancer rather than in its initial development in Chinese Han women.Breast cancer is the most common malignancy threatening the health and life of women and it's incidence has increased in recent years in both developed and developing countries[1]. Biologic mechanisms leading to the development of breast cancer are not clearly understood, but the role of cytokines in cancer immunity and carcinogenesis has been well established[2]. As a multifunctional Th2-cytokine with both immunosuppressive and anti-angiogenic functions, interleukin-10 (IL-10) may have both tumor-promoting and tumor-inhibiting properties[3]. Recent data suggest that polymorphic variations in the promoter sequences of IL-10 gene may influence the gene expression[4,5] and consequently play a certain role in susceptibility and clinical course of breast cancer.IL-10 is an important immunoregulatory cytokine mainly produced by activated T cells, monocytes, B cells and thymocytes. As an immune response modulator, IL-10 can both stimu
Interleukin-6 promoter polymorphisms (-174 G/C) in Malaysian patients with systemic lupus erythematosus
Chua, K.H.;Kee, B.P.;Tan, S.Y.;Lian, L.H.;
Brazilian Journal of Medical and Biological Research , 2009, DOI: 10.1590/S0100-879X2009000600012
Abstract: systemic lupus erythematosus (sle) is a chronic autoimmune disease that involves the inflammation of various organs upon deposition of immune complexes and is characterized by uncontrolled b cell hyperactivity. despite intensive research on the etiology of the disease, the exact cause of the onset of sle is unknown. the pathogenesis of the disease has been proposed to be associated with the imbalance of t helper type 1 (th1) and th2 cytokine activities. elevated serum levels of interleukin-6 (il-6), a th2 cytokine with various functions in the regulation of human biological systems, are observed in sle patients. in the present study, 100 malaysian sle patients and 100 controls were evaluated in order to determine the association of polymorphisms existing in the promoter region of the il-6 gene with the onset of sle. the homozygous g genotype was found to be significant in sle patients (χ2 = 33.754; p = 0.00000000625), whereas the heterozygous g/c genotype was significant in the controls (χ2= 25.087; p = 0.000000548). we suggest that the c allele might have a masking effect on the g allele when both alleles are present in heterozygous individuals. however, we did not observe any significant association of the homozygous c allele with the onset of sle or with protection from the disease (χ2 = 1.684; p = 0.194366).
Relationship of Epstein-Barr Virus and Interleukin 10 Promoter Polymorphisms with the Risk and Clinical Outcome of Childhood Burkitt Lymphoma  [PDF]
Carolina Minnicelli, Mário H. M. Barros, Claudete E. Klumb, Sérgio O. Romano, Ilana R. Zalcberg, Rocio Hassan
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0046005
Abstract: Epstein-Barr virus (EBV) is an important environmental factor associated to the development of Burkitt lymphoma (BL) in endemic and intermediate risk regions. However, little is known about the contribution of genetic constitution to the development and clinical response of the disease. The aim of this work was to investigate the role of EBV and Interleukin 10 (IL10) single nucleotide polymorphisms (?1082A/G, ?819C/T, ?592C/A) and microsatellites (IL10.R and IL10.G) in susceptibility and clinical outcome in pediatric BL patients, in a region with intermediate EBV association frequency. The frequencies of IL10 promoter Single nucleotide polymorphisms ?1082A/G, ?819C/T, ?592C/A, and IL10.R and IL10.G microsatellites were compared in 62 pediatric patients and 216 healthy donors. IL10 ?1082GG and GCC/GCC genotypes were more frequent in patients than in controls, and associated to a higher risk of BL development (GG genotype OR 2.62, 95% CI, 1.25–5.51; P = 0.008; Pc = 0.024). EBV was detected in tumor samples by EBER-ISH in 54.1% of cases. EBV+ patients exhibited a better event free survival (EFS) (P = 0.019) than EBV? patients. Carriers of IL10 R3-GCC had worse EFS (P = 0.028). Our results suggest a risk effect and an independent prognostic value of IL10 polymorphisms and EBV in childhood BL patients.
ASSOCIATION OF -590C/T INTERLEUKIN-4 GENE PROMOTER POLYMORPHISM WITH ATOPIC ASTHMA IN SOUTH INDIAN PEOPLE  [cached]
Vishnumaya CP, Sudha S*, Suhail N, Gemitha G, Saranya RS, Sreejaya S
International Journal of Bioassays , 2013,
Abstract: Interleukin-4 (IL-4) is a key cytokine involved in the development of atopy and asthma. The IL-4 promoter region would seem to be the most likely site for polymorphism. Our study was to identify polymorphisms within the promoter region of IL-4 (–590C/T) and check their association with atopic asthma in a group of south Indian population. Polymerase chain reaction based restriction analysis was performed in DNA samples of 56 atopic asthma patients and 42 healthy control subjects of equivalent gender, age, and ethnicity. The genotypic frequency of the IL-4 promoter was significantly greater among patients than controls (p=0.044). A positive association between the IL-4 -590 TT genotype and elevated levels of IgE was confirmed in the study population (p=0.05) with an increased risk for the development of atopic asthma. These results suggest correlation between genetic variability at the promoter of IL-4 gene (-590C/T) and occurrence of atopic asthma.
Association of Osteopontin Gene Promoter Single Nucleotide Polymorphisms with Bull Semen Quality  [PDF]
Rick W. Rorie, Chance L. Williams, Toby D. Lester
Advances in Reproductive Sciences (ARSci) , 2016, DOI: 10.4236/arsci.2016.41001
Abstract: Osteopontin (OPN) is a protein found at higher concentrations in the seminal plasma of bulls with above average fertility. Polymorphisms have been reported within the OPN gene promoter that can affect production of this protein and thus, affect fertility. Therefore, Angus (n = 5) and Angus x Gelbvieh (Balancer, n = 14) and Angus x Brahman (n = 15) bulls were evaluated for presence of single nucleotide polymorphisms (SNP) in the Bos taurus OPN gene (GenBank: AY878328.1) promoter region, and their possible effects on bull semen quality as evaluated by computer-assisted semen analysis (CASA). Semen was collected by electroejaculation 6 to 9 times from each bull, and each semen collection was evaluated by CASA for motile, progressive and rapid sperm within 5 mins of ejaculation. The bulls were genotyped for reported single nucleotide polymorphisms (SNP) in the promoter region of the OPN gene through amplification of two 700 base pair (bp) DNA fragments and sequencing of the resulting PCR products. Seven SNP sites were identified, at bp 3379, 3490, 3492, 5075, 5205, 5209, and 5263 of the OPN gene. The SNP identified at bp 5205, 5209 and 5263 had not been previously reported. Individual SNP sites were evaluated as the main effect on CASA sperm motility variables in a SAS MIXED model for repeated measures. A thymine to guanine substitution at bp 3379 was associated with increased (P ≤ 0.02) percentage of motile, progressive and rapid sperm in Angus x Brahman bulls, and tended (P ≤ 0.10) to increase the same sperm motility parameters in Angus, and Angus x Gelbvieh bulls. The percentages of motile, progressive and rapid sperm were similar (P ≥ 0.05) among genotypes for the other 6 SNP identified. These results suggest that identification and genotyping of polymorphisms within the promoter region of the bovine OPN gene may be useful for selecting bulls with improved sperm motility parameters.
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