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1.
Alamtaj Samsami Dehaghani Khatere Shahriary Mohammad Amin Kashef Sirous Naeimi Mohammad Javad Fattahi Zahra Mojtahedi Abbas Ghaderi 《Molecular biology reports》2009,36(8):2393-2397
IL-18, initially defined as a potent inducer of IFN- γ production, is a systemic, multifunctional cytokine with both pro-cancerous
and anti-cancer activities. The contribution of the IL-18 promoter polymorphisms at positions −607 (C/A) and −137 (G/C) to
cancer development has been reported. We sought to examine IL-18 serum level and its polymorphisms in Iranian women with ovarian
cancer. Single nucleotide polymorphisms (SNPs) at positions −607 (C/A) and −137 (G/C) were analyzed by allele-specific polymerase
chain reaction in 85 women with ovarian cancer and 158 healthy controls. IL-18 serum level was determined using ELISA method.
No significant association was found between the allele, genotype, and haplotype distributions of the SNPs and ovarian cancer.
Mean IL-18 serum level was significantly higher in patients than in controls (P = 0.008). Comparing IL-18 serum levels with genotypes at positions −607 and −137 revealed no significant difference. No association
was also found between IL-18 levels and the disease stage. In conclusion, our results indicate that IL-18 promoter polymorphisms
at positions −607 (C/A) and −137 (G/C) appear not to confer susceptibility to ovarian cancer in Iranian population; however,
IL-18 serum level increases in ovarian cancer patients. 相似文献
2.
Sainz J Pérez E Gómez-Lopera S López-Fernández E Moratalla L Oyonarte S Jurado M 《Cytokine》2008,41(3):268-278
Several lines of evidence indicate that IL6 plays a major role in the pathogenesis of a number of infectious diseases. The purpose of this study was to determine whether IL6 promoter polymorphisms were genetic markers of susceptibility to invasive pulmonary aspergillosis (IPA). To clarify the relationship between IL6 variants and IPA susceptibility, the IL6−174(G/C) and IL6−634(G/C) promoter single nucleotide polymorphisms (SNPs) were defined and plasma concentrations of IL6 and C-reactive protein (CRP) were measured. The study included 130 patients with haematological malignancies and 145 unrelated healthy individuals. No significant genotypic and allelic differences were found between patients and healthy controls. IPA was diagnosed in 71 of 130 patients according to the consensus criteria. CRP values were significantly associated with both IL6−174(G/C) and IL6−634(G/C) polymorphisms. However, IL6 and CRP values were similar between IPA and non-IPA groups. Neither IL6−174(G/C) nor IL6−634(G/C) polymorphisms were associated with IPA infection (p = 0.414 and p = 0.184, respectively). No evidence of association was found between allelic frequencies of IL6 promoter polymorphisms and IPA infection (p = 0.864 and p = 0.104, respectively). Further, no association was detected between IL6 genotypes and clinical profiles in IPA patients. Haplotype analysis also revealed that IL6 gene was not associated with IPA susceptibility in a Spanish population (Global haplotype association p value: 0.31). These findings suggest that IL6 polymorphisms influence on CRP circulating levels but are not associated with IPA susceptibility. Because the sample size is relatively small in our series, larger investigations of IL6−174(G/C)/IL6−634(G/C) genotypes and haplotypes are needed to clarify the potential role of this gene in the pathophysiology of IPA infection. 相似文献
3.
Cyclooxygenase-2 (Cox-2) is a key enzyme in the conversion of arachidonic acid to prostaglandins that has been shown to have
a particular importance in the progression of several malignancies including nasopharyngeal carcinoma (NPC). In the current
report, we designed a case-controlled study to evaluate the susceptibility and prognostic implications of the functional −765
G > C genetic variation in NPC. A PCR and restriction fragment length polymorphism analysis was used to determine the polymorphism
in a Tunisian population of patients with NPC (n = 180) and in healthy control subjects (n = 169). A higher risk for NPC was observed for carriers of COX-2 −765 C allele (OR = 1.76; P = 0.01). This association remains significant after adjustments for age and sex (OR = 1.89; P = 0.008). Regarding prognostic indicators, a significant association was found between −765 C allele carriers and the presence
of lymph node metastasis (OR = 2.28; P = 0.01), as well as, with tumor stage (OR = 2.73; P = 0.03). This is the first report on the studies of COX-2 SNPs in NPC and our data suggest that this genetic variant may
play a role in mediating susceptibility to NPC, as well as, in neoplastic progression, a finding which further supports the
involvement of COX-2 in NPC etiology.
Hela Ben Nasr and Karim Chahed contributed equally to the study. 相似文献
4.
Michel Chrel Loïc Campion Stphane Bzieau Mario Campone Josiane Charrier Joëlle Gaschet Gabriel Ricolleau Wilfried Gouraud Catherine Charbonnel Pascal Jzquel 《Cytokine》2009,47(3):214-223
Interleukin-6 (IL-6) is a cytokine involved in different physiologic and pathophysiologic processes including carcinogenesis. In 2003, a single nucleotide polymorphism (−174G/C) of the IL-6 gene promoter has been linked to breast cancer prognosis in node-positive (N+) breast cancer patients. Since, different studies have led to conflicting conclusions about its role as a prognostic and/or diagnostic marker. The primary aim of our study was to investigate the link between −174G/C polymorphism and breast cancer risk on the one hand, and −174G/C polymorphism and prognosis in different groups of patients: sporadic N+ breast cancers (n = 138), sporadic N− breast cancers (n = 95) and familial breast cancer (n = 60) on the other hand. The variables of interest were disease-free survival and overall survival. The secondary aim of the study was to screen IL-6 gene promoter using direct sequencing to identify new polymorphisms in our French Caucasian breast cancer population. No association or trend of association between −174G/C polymorphism of IL-6 gene promoter gene and breast cancer diagnosis or prognosis was shown, even in meta-analyses. Furthermore, we have identified four novel polymorphic sites in the IL-6 gene promoter region: −764G → A, −757C → T, −233T → A, 15C → A. 相似文献
5.
The association of the two ERCC polymorphisms, Asp312Asn and Lys751Gln, with lung cancer risk remains controversial and inconclusive.
To better evaluate the potential role of the two polymorphisms and interaction with tobacco smoking in lung cancer susceptibility
presented in diverse populations, we have conducted a meta-analysis based on 26 studies from 24 publications which included
analyses of Asp312Asn (7121 cases, 8962 controls) and Lys751Gln (8396 cases, 10510 controls) polymorphisms. Overall, significantly
elevated lung cancer risk was associated with ERCC2 312Asn allele(homozygous model: OR = 1.20[1.05–1.36], P = 0.006; recessive model: OR = 1.20[1.06–1.35], P = 0.004) and 751Gln allele(homozygous model: OR = 1.31[1.17–1.46], P < 0.00001; heterozygous model: OR = 1.11[1.04–1.19], P = 0.003; recessive model: OR = 1.23[1.11–1.37], P < 0.0001; dominant model: OR = 1.15[1.08–1.23], P < 0.0001). In ethnic subgroup analyses, significantly increased risk was associated with ERCC2 312Asn allele for both Caucasians
and Asians, and 751Gln allele for both Caucasians and Latino-Americans. When stratified by smoking status, significantly elevated
risk of both polymorphisms for never-smokers was detected (dominant model, OR = 1.46[1.09–1.95] and 1.57[1.19–2.08], P = 0.01 and 0.002, respectively). In conclusion, this meta-analysis suggests that the two ERCC2 polymorphisms may contribute
to lung cancer susceptibility serving as low-penetrance risk factors. Extremely large-scale evidence would be necessary to
confirm the effects on ethnically specific populations and gene-environment interactions. 相似文献
6.
Dulciene M.M. Queiroz Ivan E.B. Saraiva Gifone A. Rocha Andreia M.C. Rocha Luciana I. Gomes Fabrício F. Melo Paulo F.S. Bittencourt 《Microbes and infection / Institut Pasteur》2009,11(12):980-987
We evaluated whether polymorphisms in genes coding molecules linked to the innate and adaptive immune response are associated with susceptibility to Helicobacter pylori infection. IL1B-511C → T, IL1B-31 T → C, IL1RN allele 2, IL2-330 T → G, TNFA-307 G → A, TLR2Arg677Trp, TLR2Arg753Gln, TLR4Asp299Gly, and TLR5392STOP polymorphisms were determined in 541 blood donors. IL2-330 T → G allele carriers had a decreased H. pylori infection risk (OR = 0.63, 95% CI = 0.43–0.93) after adjustment for demographic and environmental factors. Hence, we investigated whether the polymorphism is functional by evaluating IL-2 serum concentration in 150 blood donors and 100 children. IL-2 pro-inflammatory and anti-inflammatory properties were indirectly investigated by determining serum IFN-γ and IL-10/TGF-β levels. The polymorphism was associated with increased mean IL-2 levels in H. pylori-positive adults (2.65 pg/mL vs. 7.78 pg/mL) and children (4.19 pg/mL vs. 8.03 pg/mL). Increased IL-2 was associated with pro-inflammatory activity in adults (IFN-γ = 18.61 pg/mL vs. 25.71 pg/mL), and with anti-inflammatory activity in children (IL-10 = 6.99 vs. 14.17 pg/mL, TGF-β = 45.88 vs. 93.44 pg/mL) (p < 10−3 for all). In conclusion, in the context of H. pylori infection, IL2-330 T → G polymorphism is functional and is associated with decreased risk of infection in adults. 相似文献
7.
Binwu Ying Yunying Shi Xiaofu Pan Xingbo Song Zhunchun Huang Qian Niu Bei Cai Lanlan Wang 《Molecular biology reports》2011,38(1):379-385
The decrease of anti-inflammatory cytokine and increase of pro-inflammatory cytokine was observed in rheumatoid arthritis
(RA). Interleukin-10 (IL-10), a potent anti-inflammatory cytokine, has been demonstrated to suppress joint swelling and deformation
in RA animal model. Interleukin-18 (IL-18), a widely distributed pro-inflammatory cytokine, induces the production of IFN-γ,
activate NK cells, and promote inflammation. Recent studies demonstrated that the serum IL-10 and IL-18 levels may be influenced
by genetics and related to susceptibility to several autoimmune diseases. In the present study, using polymerase chain reaction–restriction
fragment length polymorphism (PCR–RFLP) and DNA sequencing techniques, we analyzed the genotype and allele distributions of
two single nucleotide polymorphisms (SNP) loci in the promoter region of IL-10 and IL-18 genes (IL-10-592 A/C and IL-18-607
A/C loci, respectively). Our results indicated that IL-10-592 allelic and genotypic frequencies were significantly different
between the RA patients and normal subjects (P < 0.05). In addition, significant differences of IL-10-592 allelic and genotypic frequencies were also detected between the
patients with or without anti-cyclic citrullinated peptide antibody (anti-CCP) (P < 0.05). In contrast, allelic and genotypic frequencies of IL-18-607 did not show significant difference between RA patients
and normal subjects (P > 0.05) or between anti-CCP-positive and anti-CCP-negative RA patients (P > 0.05). Furthermore, ELISA detection of IL-10 and IL-18 serum levels revealed that the genotype of IL-10-592 was associated
with IL-10 serum level (P < 0.05), but the genotype and allele frequency of IL-18-607 was not associated with IL-18 serum level (P > 0.05). Taken together, our findings provide new insight for the polymorphism of IL-10 gene in the pathogenesis of RA. 相似文献
8.
Wenchao Yang Zhenmin Zhu Jin Wang Wei Ye Yong Ding 《Journal of cellular and molecular medicine》2014,18(12):2466-2477
Emerging evidence shows that interleukin (IL)‐10 gene polymorphisms can regulate its expression level and thus influence person's susceptibility to preeclampsia. However, various published results were inconsistent. To explore the association between maternal IL‐10 gene polymorphisms and preeclampsia, we performed a meta‐analysis based upon 11 individual studies here. Our meta‐analysis results indicated that IL‐10 ‐819C/T (C versus T, OR = 1.28, 95% CI = 1.08–1.50, P = 0.003) and ‐592C/A (C versus A, OR = 1.28, 95% CI = 1.03–1.59, P = 0.03) polymorphisms were associated with preeclampsia. Although there was no overall association between ‐1082A/G polymorphism and preeclampsia (G versus A, OR = 0.93, 95% CI = 0.77–1.13, P = 0.49), such association existed among Asian (G versus A, OR = 1.29, 95% CI = 1.04–1.60, P = 0.02) and South American (G versus A, OR = 0.72, 95% CI = 0.54–0.94, P = 0.02) populations in the subgroup analysis stratified by continents. 相似文献
9.
Tumor necrosis factor alpha (TNF-α) is a vital cytokine involved in inflammation, immunity, and cellular organization. The
TNFA-308G/A (rs1800629) and -238G/A (rs361525) polymorphisms are two widely investigated variants for their associations with
risk of cervical cancer, but the results are conflicting. Here, we performed a meta-analysis to pool the data and evaluate
the between-studies heterogeneity. All the case–control studies published from January 1989 to October 2010 on the association
between the two polymorphisms of TNFA and cervical cancer risk were identified by searching the electronic literature Medline. The cervical cancer risk associated
with the two polymorphisms of TNFA gene was estimated for each study by OR together with its 95% CI, respectively, by using the Review Manager 4.2 software. It was showed that the variant homozygote
-308AA was associated with a significantly increased risk of cervical cancer (AA vs. GG: OR = 1.41, 95% CI = 1.03–1.92, P = 0.033; AA vs. GA/GG: OR = 1.39, 95% CI = 1.02–1.90, P = 0.036), and the effect was more evident among Asians (AA vs. GA/GG: OR = 3.67, 95% CI = 1.25–10.81, P = 0.018). We also found that the variant genotypes -238GA/AA was associated with a significantly decreased risk of cervical
cancer (GA/AA vs. GG: OR = 0.55, 95% CI = 0.41–0.74, P < 0.001). The results suggested that TNFA-308G/A and -238G/A may contribute to cervical cancer susceptibility. 相似文献
10.
Rui‐Xi Hua Zhenjian Zhuo Lili Ge Jinhong Zhu Li Yuan Chongfen Chen Jing Liu Jiwen Cheng Haixia Zhou Jiao Zhang Huimin Xia Xianwei Zhang Jing He 《Journal of cellular and molecular medicine》2020,24(1):1059-1066
Neuroblastoma ranks the most common seen solid tumour in childhood. Overexpression of LIN28A gene has been linked to the development of multiple human malignancies, but the relationship between LIN28A single nucleotide polymorphisms (SNPs) and neuroblastoma susceptibility is still under debate. Herein, we evaluated the correlation of four potentially functional LIN28A SNPs (rs3811464 G>A, rs3811463 T>C, rs34787247 G>A, and rs11247957 G>A) and neuroblastoma susceptibility in 505 neuroblastoma patients and 1070 controls from four independent hospitals in China. The correlation strengths were determined by using odds ratios (ORs) and corresponding 95% confidence intervals (CIs). Among these SNPs, rs34787247 G>A exhibited a significant association with increased susceptibility in neuroblastoma (GA vs GG: adjusted OR = 1.30, 95% CI = 1.03‐1.64; AA vs GG: adjusted OR = 2.51, 95% CI = 1.36‐4.64, AA/GA vs GG: adjusted OR = 1.42, 95% CI = 1.12‐1.80, AA vs GG/GA: adjusted OR = 2.39, 95% CI = 1.29‐4.42). Furthermore, the combined analysis of risk genotypes revealed that subjects carrying three risk genotypes (adjusted OR = 1.64, 95% CI = 1.02‐2.63) are more inclined to develop neuroblastoma than those without risk genotype, and so do carriers of 1‐4 risk genotypes (adjusted OR = 1.26, 95% CI = 1.01‐1.56). Stratification analysis further revealed risk effect of rs3811464 G>A, rs34787247 G>A and 1‐4 risk genotypes in some subgroups. Haplotype analysis of these four SNPs yields two haplotypes significantly correlated with increased neuroblastoma susceptibility. Overall, our finding indicated that LIN28A SNPs, especially rs34787247 G>A, may increase neuroblastoma risk. 相似文献
11.
Some studies have shown that IL-18 was associated with aetiology and progression of asthma. However, the association between
single-nucleotide polymorphisms −607C/A (rs1946518) and −137G/C (rs187238) located in the IL-18 gene promoter and asthma risk
was still controversial and ambiguous. To derive a more precise effect on the association between these polymorphisms and
asthma risk, we performed a meta-analysis based on the currently available evidence of the literature. A total of 5 studies
with 1411 cases and 1525 controls for −607C/A polymorphism and 5 studies with 1883 cases and 6645 controls for −137G/C polymorphism
were identified to perform a meta-analysis, up to October 2010. Summary ORs and corresponding 95% CIs for IL-18 polymorphisms
and asthma were estimated using fixed- and random-effects models when appropriate. Heterogeneity and publication bias were
evaluated. We found that individuals carrying AC/CC genotype of −607C/A polymorphism were associated with an increased asthma
risk in recessive model (OR = 1.278; 95% CI, 1.073–1.522). However, no significant association was observed between −137G/C
polymorphism and asthma risk under different contrast models. There was no evidence of publication bias. The present meta-analysis
suggested that IL-18 −607C/A polymorphism in promoter region was associated with asthma risk. 相似文献
12.
Thakur N Hussain S Nasare V Das BC Basir SF Bharadwaj M 《Molecular biology reports》2012,39(1):407-414
The potent tumor suppressors P16 and RB1 are the key regulators of cell cycle machinery in eukaryotes. Polymorphisms in these
genes play an important role in the outcome of various diseases including cancer. In the present study, we evaluated the association
of p16 and RB1 polymorphisms with cervical cancer susceptibility in Indian population. We screened 150 histologically confirmed
cervical cancer cases along with equal number of healthy controls with normal cervical cytology. PCR-RFLP method was employed
for genotyping of SNPs in p16 C540G (rs11515), C580T (rs3088440) in the 3′-UTR of exon 3 and RB1 A153104G (rs4151580) located
in the intron 18 and confirmed by direct sequencing. Both patients and controls were screened for HPV infection. In this case–control
study 84.67% (127/150) of cases were found to be positive for HPV DNA sequence. Women carrying p16 C540G carrier genotypes
540 (CG/GG) may have protective effect for the development of cervical cancer (P = 0.0001, OR = 0.31, 95% CI = 0.17–0.56). And SNP at C580T of p16 gene was found to be negatively associated with the risk
of cervical cancer (P = 0.0004, OR = 0.04, 95% CI = 0.002–0.63). p16 (540C/580T) has emerged as a major risk haplotype (P = 0.033, OR = 1.47, 95% CI = 1.05–2.07) whereas p16 (540G/580T) as a chief protective haplotype (P = 0.014, OR = 0.39, 95% CI = 0.18–0.83) for the development of cervical cancer among Indian women. Contrary to this, SNP
at A153104G of RB1 gene showed statistically significant association (P = 0.035, OR = 1.69, 95% CI = 1.06–2.68) with increased susceptibility for the development of cervical cancer. Our results
suggest that single nucleotide polymorphisms in p16, RB1 genes may affect the susceptibility to cervical cancer collectively. 相似文献
13.
Xiao‐Xia Pang Shun‐Da Luo Ting Zhang Feng Shi Chun‐Fang Wang Xing‐Hong Chen Yu‐Xia Wei Li Qin Jing‐Xi Wei Xiao‐Qiong Luo Jun‐Li Wang 《Journal of cellular and molecular medicine》2019,23(4):2410-2418
Interleukin‐27 (IL‐27) gene polymorphisms are linked to infectious disease susceptibility and IL‐27 plasma level is associated with HIV infection. Therefore, we aimed to investigate the association between IL‐27 polymorphisms and susceptibility to HIV infection and disease progression. A total of 300 patients with HIV infection (48 long‐term nonprogressors and 252 typical progressors) and 300 healthy controls were genotyped for three IL‐27 polymorphisms, rs17855750, rs181206, rs40837 which were performed by using multiple single nucleotide primer extension technique. Significant association was found between IL‐27 rs40837 polymorphisms with susceptibility to HIV infection (AG vs AA: adjusted OR = 1.60, 95% CI, 1.11‐2.30, P = 0.012; AG+GG vs AA: adjusted OR = 1.44, 95% CI, 1.02‐2.03, P = 0.038) and disease progression (LTNP: AG vs AA: adjusted OR = 2.33, 95% CI, 1.13‐4.80, P = 0.021; TP: AG vs AA: adjusted OR = 1.50, 95% CI, 1.04‐2.24, P = 0.030). Serum IL‐27 levels were significantly lower in cases compared to controls (P < 0.001). There were lower serum IL‐27 levels in TPs than in LTNPs (P < 0.001). We further found that LTNPs with rs40837 AG or GG genotype had lower serum IL‐27 levels than with AA genotype (P < 0.05). The CD4+T counts in cases were significantly lower than controls (P < 0.001). In contrast, individuals with rs40837 AG genotype had lower CD4+T counts than with AA genotype in cases (P < 0.05). In addition, CD4+T counts in TPs were significantly lower than LTNPs (P < 0.001). IL‐27 rs40837 polymorphism might influence the susceptibility to HIV infection and disease progression probably by regulating the level of serum IL‐27 or the quantity of CD4+T. 相似文献
14.
Ziping Chen Chuanzhen Zhang Changqing Xu Kun Li Ruiping Hou Danping Li Xiaoli Cheng 《Molecular biology reports》2011,38(3):1507-1513
DNA repair capacity (DRC) can be altered based on sequence variations in DNA repair genes, which may result in cancer susceptibility.
The current study was to evaluate the association between genetic polymorphisms, including associated haplotypes of xeroderma
pigmentosum complementary group D (XPD), and individual susceptibility to gastric cancer. Two-hundred-eight patients with
gastric cancer and 339 healthy controls were enrolled in this study. Their genomic DNA was extracted from peripheral blood
leukocytes. The genotypes at exon 6, 10 and 23 were identified by polymerase chain reaction (PCR). Unconditional logistic
regression model was used to analyze the effects of the polymorphisms, including the corresponding haplotypes, on the susceptibility
to develop gastric cancer. The proportion of genotypes GA or AA at exon 10 in cases was showed to be significantly higher
than that in controls (P < 0.01, P < 0.01, respectively). The risk of genotype GA or AA carriers to develop gastric cancer was simultaneously much higher (OR = 3.38,
95% CI 2.30–4.95; OR = 6.13, 95% CI 2.45–15.31, respectively). The allele A at exon 10 was also observed to manifest a substantially
higher frequency in cases compared to controls (P < 0.01), which might indicate an increased tendency to gastric cancer (OR = 2.40, 95% CI 1.81–3.17). No significant differences
were found in the distribution of genotypes at exon 6 or 23 between the two groups (P = 0.23, P = 0.52; P = 0.44, P = 0.56, respectively). By haplotype analysis, haplotype AAA could individually increase incidence of gastric cancer (P < 0.01, OR = 3.39, 95% CI 2.21–5.21). In contrast, haplotypes CGA and AGA were showed a decline in gastric cancer susceptibility
(OR = 0.67, 95% CI 0.46–0.97; OR = 0.58, 95% CI 0.41–0.83, respectively). The rest of haplotypes made no statistically significant
difference between cases and controls. Taken together, this study demonstrates that the genetic variation at exon 10 and haplotype
AAA may be contributing factors in developing gastric cancer. 相似文献
15.
The single-gene approaches in association studies of polygenic diseases are likely to provide limited value in predicting
risk. The combined analysis of genetic variants that interact in the same pathway may amplify the effects of individual polymorphisms
and enhance the predictive power. To evaluate higher order gene–gene interaction, we have examined the contribution of four
angiogenic gene polymorphisms (VEGF-1154G/A; VEGF-634G/C; MMP9-1562C/T and TSP1-8831A/G) in combination to the risk of prostate cancer. For the combined analysis of VEGF and MMP9 SNPs, we found a significant gene–dosage effect for increasing numbers of potential high-risk genotypes. Compared to referent
group (low-risk genotypes), individuals with one (OR = 2.79, P = 0.1), two (OR = 4.57, P = 0.02) and three high-risk genotypes (OR = 7.11, P = 0.01) had increasingly elevated risks of prostate cancer. Similarly, gene–gene interaction of VEGF and TSP1 polymorphisms increased risk of prostate cancer in additive manner (OR = 6.00, P = 0.03), although the TSP1 polymorphism itself was not associated with the risk. In addition, we examined the synergistic effect of these polymorphisms
in relation to prostate cancer prognosis according to histopathological grade and clinical stage at diagnosis. Cross-classified
analysis revealed potential higher order gene–gene interactions between VEGF and TSP1 polymorphisms in increasing the risk of developing an aggressive phenotype disease. Patients carrying three high-risk genotypes
showed a 20-fold increased risk of high-grade tumor (OR = 20.75, P = 0.002). These results suggest that the gene–gene interaction of angiogenic gene polymorphisms’ increased risk of prostate
cancer onset and aggressiveness. 相似文献
16.
The aim of this study was to explore whether vitamin D receptor (VDR) polymorphisms confer susceptibility to psoriasis. Meta-analyses
were conducted on the associations between the VDR ApaI, TaqI, BsmI, and FokI polymorphisms and psoriasis. Nine relevant studies
on VDR polymorphisms and psoriasis were included in this meta-analysis, which involved 742 psoriasis patients and 715 controls.
Meta-analysis indicated an association between the VDR ApaI A allele and psoriasis in Turkish studies (OR = 0.684, 95% CI = 0.475–0.985,
p = 0.041). Meta-analysis indicated an association between the BsmI B allele and psoriasis in Asians (OR = 0.636, 95% CI = 0.411–0.984,
p = 0.041), and showed a significant association between the FF and ff genotypes of the FokI polymorphism and psoriasis in
all study subjects and in Turkish studies (OR = 2.028, 95% CI = 1.194–3.446, p = 0.009; OR = 3.582, 95% CI = 1.602–8.009, p = 0.002). This meta-analysis suggests that the VDR ApaI polymorphism confers susceptibility to psoriasis in the Turkish population.
In addition, associations were found between the BsmI polymorphism and susceptibility to psoriasis in Asians and between the
Fok I polymorphism and psoriasis in the Turkish population. 相似文献
17.
Recent studies have shown association of mtDNA background with cancer development. We analyzed mitochondrial DNA (mtDNA) control region variation of 201 patients with nasopharyngeal carcinoma (NPC) and of 201 normal controls from Chaoshan Han Chinese to discern mtDNA haplogroup effect on the disease onset. Binary logistic regression analysis with adjustment for gender and age revealed that the haplogroup R9 (P = 0.011, OR = 1.91, 95% CI = 1.16–3.16), particularly its sub-haplogroup F1 (P = 0.015, OR = 2.43, 95% CI = 1.18–5.00), were associated significantly with increased NPC risk. These haplogroups were further confirmed to confer high NPC risk in males and/or individuals ≥40 years of age, but not in females or in subjects <40 years old. Our results indicated that mtDNA background confers genetic susceptibility to NPC in Chaoshan Han Chinese, and R9, particularly its sub-haplogroup F1, is a risk factor for NPC. 相似文献
18.
Xuemei Ji Weidong Zhang Jiang Gui Xia Fan Weiwei Zhang Yafang Li Guangyu An Dakai Zhu Qiang Hu 《PloS one》2014,9(10)
Background
The 15q25.1 lung cancer susceptibility locus, containing CHRNA5, could modify lung cancer susceptibility and multiple smoking related phenotypes. However, no studies have investigated the association between CHRNA5 rs3841324, which has been proven to have the highest association with CHRNA5 mRNA expression, and the risk of other smoking-associated cancers, except lung cancer. In the current study we examined the association between rs3841324 and susceptibility to smoking-associated nasopharyngeal carcinoma (NPC).Methods
In this case-control study we genotyped the CHRNA5 rs3841324 polymorphism with 400 NPC cases and 491 healthy controls who were Han Chinese and frequency-matched by age (±5 years), gender, and alcohol consumption. Univariate and multivariate logistic regression analyses were used to calculate the odds ratio (OR) and 95% confidence intervals (95% CI).Results
We found that individuals with CHRNA5 rs3841324 combined variant genotypes (ins/del+del/del) had a >1.5-fold elevated risk for NPC than those with the ins/ins genotype (adjusted OR = 1.52; 95% CI, 1.16–2.00), especially among ever smokers (adjusted OR = 2.07; 95% CI, 1.23–3.48). The combined variant genotypes acted jointly with cigarette smoking to contribute to a 4.35-fold increased NPC risk (adjusted OR = 4.35; 95% CI, 2.57–7.38). There was a dose-response relationship between deletion alleles and NPC susceptibility (trend test, P = 0.011).Conclusions
Our results suggest that genetic variants on the 15q25.1 lung cancer susceptibility locus may influence susceptibility to NPC, particularly for smoking-associated NPC. Such work may be helpful to facilitate an understanding of the etiology of smoking-associated cancers and improve prevention efforts. 相似文献19.
The aim of this study was to determine whether the interleukin-10 (IL-10) polymorphisms confer susceptibility to rheumatoid
arthritis (RA). A meta-analysis was conducted on the associations between the IL-10 −1082 G/A, −592 C/A, −892 C/T and IL-10.R
polymorphisms and RA using; (1) allele contrast, (2) the recessive model, (3) the dominant model, and (4) the additive model.
A total of 16 studies (19 comparisons) involving 2647 RA patients and 3383 controls were considered in the meta-analysis.
Meta-analysis of the IL-10 −1082 G/A polymorphism showed no association with RA in the study subjects, or in European or Asian
subjects. However, meta-analysis of the −1082 G allele in 4 studies in Hardy–Weinberg equilibrium showed a significant association
with RA (OR = 1.217, 95% CI = 1.027–1.442, P = 0.0236). In contrast, meta-analysis of the C allele, the CC genotype, and of the CC versus the AA genotype of the IL-10
−592 C/A polymorphism showed significant associations with RA. The overall ORs of the associations between the C allele and
RA were 0.684 and 0.758 (95% CI = 0.494–0.946, P = 0.022; 95% CI = 0.475–1.210, P = 0.045) in all study subjects and Asians. Meta-analysis of the CC + CT versus TT genotype and of the CC versus TT genotype
of the IL-10 −892 C/T polymorphism revealed significant associations with RA. The overall OR of the association between the
C allele carrier and RA was 0.552 (95% CI = 0.375–0.812, P = 0.003). No association was found between the IL10.R2 alleles and RA. This meta-analysis suggests that the IL-10 −592 C/A
polymorphism confers susceptibility to RA in Asians and that the IL-10 −1082 G/A and −892 C/T polymorphisms are associated
with RA susceptibility. These findings suggest the IL-10 genes confer susceptibility to RA. 相似文献
20.
One previous meta-analysis found no evidence that interleukin 1 beta (IL-1β) −511 gene polymorphism was associated with febrile
seizures (FS) by pooling a limited number of studies. However, it is necessary for the meta-analysis to reevaluate the relationship
with more recent findings. Electronic databases were systematically searched for studies published before June 2011. Pooled
odds ratios (OR) and 95% confidence interval (CI) were estimated by means of a genetic model free approach. Subgroup and sensitivity
analyses were also performed. All statistical analyses were conducted using Stata 9.0. A total of eight studies, 728 FS cases
and 1,223 controls, met the selection criteria. The results show a significant association between IL-1β −511 C/T gene polymorphism
and FS (recessive genetic model TT vs. CC + CT: OR = 1.361, 95% CI: 1.065–1.738, P = 0.014). Subgroup analyses show a significant association in Asia (OR = 1.394, 95% CI: 1.005–1.935, P = 0.047), but not in Europe (OR = 1.387, 95% CI: 0.750–2.565, P = 0.298). IL-1β −511 C/T gene polymorphism may play a role in susceptibility to FS, especially in Asia. Geographic differences
may be a critical factor in the risk of FS. 相似文献