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ABSTRACT: Chronic obstructive pulmonary disease (COPD) is characterized by irreversible airway obstruction and persistent chronic airway inflammation and is influenced by genetic and environmental factors. This study aimed to explore the genetic aspect of its initial occurrence.
We conducted a case-control study of 432 COPD patients and 511 control subjects frequency-matched in age and gender distribution. We genotyped three single nucleotide polymorphisms (SNPs) in pre-miRNAs using a PCR-RFLP assay and evaluated their relevance to COPD susceptibility.
We found that the TT genotype and T allele of miR-196a2 rs11614913 were significantly associated with a decreased risk for COPD, compared with the CC genotype and C allele. Similarly, the GG genotype and G allele of miR-499 rs3746444 were associated with a decreased risk for COPD, compared with the AA genotype and A allele.
These findings suggest that both rs11614913 and rs3746444 may be involved in susceptibility to COPD.
Clinical biochemistry 07/2011; 44(10-11):813-6. · 2.02 Impact Factor
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Xiao-Wei Su,
Yan Yang, Mei-Li Lv,
Li-Juan Li,
Wei Dong,
Miao-Liao,
Lin-Bo Gao,
Hai-Bo Luo,
Yun-Liu,
Rui-Juan Cong,
Wei-Bo Liang,
Ying-Bi Li
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ABSTRACT: Single-nucleotide polymorphisms (SNPs) in pre-miRNAs may alter microRNA (miRNA) expression levels or processing and contribute to susceptibility to a wide range of diseases. We investigated the correlation between four SNPs (rs11614913, rs3746444, rs2910164, and rs229283) in pre-miRNAs and the risk of asthma in 220 asthma patients and 540 controls using polymerase chain reaction-restriction fragment length polymorphism methodology and DNA-sequencing. There were significant differences in the genotype and allelic distribution of rs2910164G/C and rs2292832C/T polymorphisms among cases and controls. The CC genotype and C allele of rs2910164G/C were significantly associated with a decreased risk of asthma (CC vs. GG, odds ratio [OR] = 0.51, 95% confidence interval [CI]: 0.31-0.82; C vs. G, OR = 0.74, 95% CI: 0.59-0.93). Similarly, the TT genotype and T allele of rs2292832C/T were significantly associated with a decreased risk of asthma (TT vs. CC, OR = 0.56, 95% CI: 0.33-0.95; T vs. C, OR = 0.71, 95% CI: 0.53-0.95). However, no significant association between the other two polymorphisms (i.e., rs11614913C/T and rs3746444C/T) and the risk of asthma was observed. Our data indicate that rs2910164G/C and rs2292832C/T may play a role in the development of asthma.
DNA and cell biology 06/2011; 30(11):919-23. · 2.28 Impact Factor
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ABSTRACT: Tumor necrosis factor (TNF) is an immunomodulatory cytokine that plays an important role in many inflammatory and autoimmune diseases. We investigated the correlation between single-nucleotide polymorphisms of the TNF gene [i.e., TNF-α (308), TNF-α (857), TNF-α (863), TNF-α (1031), and TNF-ß (+252)] and dilated cardiomyopathy (DCM). A total of 110 DCM patients and 110 control subjects were genotyped using polymerase chain reaction-restriction fragment length polymorphism and DNA-sequencing assay. GA=AA genotypes of TNF-α (308) were significantly associated with increased risk of DCM compared with GG genotype (odds ratio[OR]=1.92; 95% confidence intervals [CI], 1.05-3.52). Similarly, GA=AA of TNF-ß (+252) was significantly associated with increased risk of DCM compared with GG genotype (OR=1.97; 95% CI, 1.14-3.38). Additionally, A allele of TNF-α (-308) and TNF-ß (+252) was associated with a 1.76-fold increased risk of DCM compared with G allele (OR=1.76; 95% CI, 1.05-2.95 and OR=1.79; 95% CI, 1.22-2.63, respectively). However,no association between DCM and TNF-α (857), TNF-α (1031), and TNF-α (863) was observed. TNF gene polymorphisms may be associated with risk of DCM.
DNA and cell biology 10/2010; 29(10):625-8. · 2.28 Impact Factor
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ABSTRACT: Psoriasis (PS) is a common hyperproliferative and chronic inflammatory disease of the skin, which involves both genetic and environmental factors. The A disintegrin and metalloproteinase 33 (ADAM33) gene, located on chromosome 20p13, has recently been identified as an asthma-susceptibility gene by positional cloning. Recently, it has been reported that ADAM33 contributed to PS risk in the French population and white North Americans. To observe the relationship between ADAM33 gene and PS, a case-control study was conducted in a Han Chinese population. Three polymorphic sites (T1, T2, and V4) were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis in 106 patients with PS and 125 healthy controls. We observed a decreased frequency in the CG genotype and GG genotype of ADAM33 rs2787094 (V4) in cases compared with controls (p = 0.045, odds ratio = 0.461, 95% confidence interval = 0.215-0.992, and p = 0.044, odds ratio = 0.447, 95% confidence interval = 0.203-0.987, respectively). Our data suggest that the ADAM33 gene may be associated with PS risk in the Chinese population.
DNA and cell biology 08/2010; 29(8):435-9. · 2.28 Impact Factor
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Lin-Bo Gao,
Xin-Min Pan,
Jing Jia,
Wei-Bo Liang,
Li Rao,
Hui Xue,
Yi Zhu,
Shi-Liu Li, Mei-Li Lv,
Wei Deng,
Tian-Yi Chen,
Yong-Gang Wei,
Lin Zhang
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ABSTRACT: Growing evidence suggests that interleukin-8 (IL-8) play pivotal roles in the pathogenesis of cancer through the modulation of tumour immune response or enhanced angiogenesis. A single nucleotide polymorphism, -251A/T, has been identified in the promoter region of the IL-8 gene and has been shown to influence its production. Results from previous studies on the association of -251A/T polymorphism with different cancer types remained contradictory. To assess the effect of -251A/T of IL-8 on cancer susceptibility, we conducted a meta-analysis, up to May 2009, of 14,876 cases with different cancer types and 18,465 controls from 45 published case-control studies. Summary odds ratios and corresponding 95% confidence intervals (CIs) for IL-8 polymorphism and cancer were estimated using fixed- and random-effects models when appropriate. The AA/AT genotypes were associated with a significantly increased risk of nasopharyngeal carcinoma when compared with TT genotype (OR=1.48; 95% CI, 1.16-1.89). Moreover, significantly elevated risks were observed in 'other cancers', and also in African population when population is concerned. Interestingly, when stratified separately by population-based studies and hospital-based studies, significantly elevated risk was found among hospital-based studies (OR=1.21, 95% CI, 1.07-1.37), whereas significantly decreased risk was found among population-based studies (OR=0.90, 95% CI, 0.83-0.97). This meta-analysis shows that IL-8 -251A/T polymorphism may play a complex role in cancer development.
European journal of cancer (Oxford, England: 1990) 05/2010; 46(8):1333-43. · 4.12 Impact Factor
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ABSTRACT: Emerging evidence suggests that ataxia telangiectasia-mutated (ATM) is involved in numerous damage repair signaling pathways and cell-cycle checkpoints. Heterozygous carriers of ATM-mutations have an increased risk for the development of breast cancer. The purpose of this study is to evaluate the association between ATM exon39 5557G > A (D1853N, rs1801516) polymorphism and breast cancer susceptibility with the use of a meta-analysis.
By searching PubMed and Embase databases, a total of 9 epidemiological studies with 4,191 cases and 3,780 controls were identified. Crude odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) for ATM D1853N polymorphism and breast cancer risk were calculated using fixed- or random-effects model based on the degree of heterogeneity among studies.
No significant association between the ATM D1853N polymorphism and breast cancer risk was observed in overall analysis (GA versus GG: OR = 1.18; 95% CI, 0.90-1.53; AA versus GG: OR = 0.77; 95% CI, 0.58-1.03; dominant model: OR = 1.16; 95% CI, 0.89-1.51; and recessive model: OR = 0.78; 95% CI, 0.59-1.04, respectively).
Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer.
Journal of Experimental & Clinical Cancer Research 01/2010; 29:117. · 2.15 Impact Factor
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ABSTRACT: The aim of this study was to investigate single-nucleotide polymorphism of the IL-23R gene and its possible relationship with systemic lupus erythematosus (SLE) in a Chinese population. We examined 139 SLE patients and 168 controls from Sichuan province in China. The genotyping of IL-23R is determined by polymerase chain reaction-restriction fragment length polymorphism. These results indicate that there is no relationship between IL-23R polymorphisms and SLE in a Chinese population. Further studies are still needed to explore the complicated interaction between environmental factors and IL-23R polymorphisms in the risk of SLE, particularly in ethnically different populations. There were no significant differences in the genotype and allele frequencies of rs10889677, rs1884444, and rs7517847 polymorphisms between the patients with SLE and the control group in a Chinese population (for rs10889677: odds ratio [OR] = 1.00, 95% confidence interval [CI] = 0.69-1.45; for rs1884444: OR = 0.96, 95% CI = 0.69-1.33; and for rs7517847: OR = 0.93, 95% CI = 0.67-1.27).
DNA and cell biology 11/2009; 29(2):79-82. · 2.28 Impact Factor
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ABSTRACT: Several asthma susceptibility loci, including a region containing the vitamin D receptor (VDR) gene located at chromosome 12q, have been identified using genome-wide screens. Our aim is to investigate the association between single nucleotide polymorphisms (SNPs) in VDR gene and asthma. One hundred one asthma patients and 206 healthy controls were enrolled in this study. Genotypes were determined using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing. The results showed that there was no significant differences in the genotype and allele frequencies of Fok I and Bsm I polymorphisms between asthma patients and the controls in the Chinese Hans (For Fok I: OR = 1.15, 95% CI: 0.82-1.60; for Bsm I: OR = 1.44, 95% CI: 0.87-2.38). It is suggested that Fok I and Bsm I polymorphisms of VDR gene may not significantly contribute to the development of asthma in the Chinese Hans.
Iranian journal of allergy, asthma, and immunology 09/2009; 8(3):141-7. · 0.51 Impact Factor
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Lin-Bo Gao,
Wei-Bo Liang,
Hui Xue,
Li Rao,
Xin-Min Pan, Mei-Li Lv,
Peng Bai,
Wen-Liang Fang,
Jin Liu,
Miao Liao,
Lin Zhang
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ABSTRACT: Common genetic variants in inflammatory cytokine genes can affect the risk of developing nasopharyngeal carcinoma (NPC). Interleukin-16 (IL-16), a pro-inflammatory cytokine, plays a pivotal role in inflammatory diseases as well as in the pathogenesis of tumors.
We analyzed rs4778889 T/C, rs11556218 T/G, and rs4072111 C/T polymorphisms of IL-16 in 206 patients with NPC and 373 healthy controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing methods.
The rs11556218 T/G polymorphism of IL-16 gene was significantly associated with the susceptibility to NPC. The TG genotype was associated with a significantly higher risk of NPC as compared with the TT genotype (OR=1.67; 95% CI, 1.18-2.36). Patients carrying the G allele had a significantly higher risk for developing NPC compared to individuals carrying the T allele (OR=1.36; 95% CI, 1.03-1.78).
This study shows an association between IL-16 gene polymorphisms and the risk of NPC, and our data suggests that IL-16 gene polymorphisms may be useful as genetic susceptibility markers for NPC.
Clinica chimica acta; international journal of clinical chemistry 09/2009; 409(1-2):132-5. · 2.54 Impact Factor
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Lin-Bo Gao,
Li Rao,
Yan-Yun Wang,
Wei-Bo Liang,
Cui Li,
Hui Xue,
Bin Zhou,
Hong Sun,
Yi Li, Mei-Li Lv,
Xiao-Jiong Du,
Lin Zhang
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ABSTRACT: Interleukin (IL)-16, a multifunctional cytokine, plays a fundamental role in inflammatory diseases, as well as in the development and progression of tumors. Genetic variation in the DNA sequence of the IL-16 gene may lead to altered cytokine production and/or activity, and this variation may modulate an individual's susceptibility to both colorectal cancer (CRC) and gastric cancer (GC). To test this hypothesis, we investigated the association of IL-16 gene polymorphisms with serum levels of IL-16 and the risk of CRC and GC in a Chinese population. We analyzed single-nucleotide polymorphisms of the IL-16 gene in 596 cancer patients (376 patients with CRC and 220 patients with GC), and also in 480 age- and sex-matched controls using polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing methods. Serum IL-16 levels were measured by enzyme-linked immunosorbent assay. The rs11556218 T/G polymorphism of the IL-16 gene was significantly associated with the susceptibility to CRC and GC patients. Both male and female patients carrying the G allele had a significantly higher risk for developing CRC and GC compared with individuals carrying the T allele. Alternatively, women carrying the T allele (rs4072111 C/T) showed a decreased risk for CRC and GC compared with individuals carrying the C allele. In patients with CRC or GC, IL-16 serum levels were significantly higher than those in the healthy controls, although no significant association between IL-16 polymorphisms and serum levels of IL-16 was observed. Our data indicate that IL-16 polymorphisms may contribute to CRC and GC susceptibility.
Carcinogenesis 01/2009; 30(2):295-9. · 5.70 Impact Factor
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ABSTRACT: The purpose was to investigate single nucleotide polymorphism of the vitamin D receptor gene and its possible relationship with colorectal cancer (CRC) in a Chinese population.
The vitamin D receptor (VDR) genotypes were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) using endonuclease BsmI and FokI, and direct sequencing in 400 Chinese people, comprised of 200 CRC patients and 200 controls from the same area in China.
The distribution of alleles (F/f) and genotypes (FF/Ff/ff) of the FokI had no significant difference between CRC patients and normal controls (P > 0.05), while that of the B allele and the BB genotype of the BsmI in CRC patients was significantly lower compared with the control group (0.1625 versus 0.740, P < 0.05, OR = 0.068, 95% CI: 0.048-0.096 and 0.060 versus 0.590, P < 0.05, OR = 0.015, 95% CI: 0.007-0.032).
The BB genotype of the VDR BsmI variant was significantly associated with a decreased risk of CRC in a Chinese population, while the VDR FokI polymorphism was not significantly associated with it.
Digestive Diseases and Sciences 07/2008; 54(3):634-9. · 2.12 Impact Factor
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ABSTRACT: Early diagnosis of nasopharyngeal carcinoma (NPC) remains a challenge. Serum protein profiling is a promising approach for the classification of cancer versus noncancer samples. The objective of the current study was to assess the feasibility of mass spectrometry-based protein profiling and a classification tree algorithm for discriminating between patients with NPC and noncancer controls.
Serum samples from patients with NPC and noncancer controls were analyzed by using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF-MS). The study was divided into a preliminary training set and a blind test set: A preliminary training set and a classification tree of spectra derived from 55 patients with NPC and a group of 60 noncancer controls were used to develop a proteomic model that discriminated cancer from noncancer effectively. Then, the validity of the classification tree was challenged with a blind test set, which included another 25 patients with NPC and 28 noncancer controls.
Four protein peaks at 4097 daltons (Da), 4180 Da, 5912 Da, and 8295 Da were chosen automatically as a biomarker pattern in the training set that discriminated cancer from noncancer with sensitivity of 94.5% and specificity of 96.7%. When the SELDI marker pattern was tested with the blinded test set, it yielded a sensitivity of 92%, a specificity of 92.9%, and an accuracy rate of 92.5%. The accuracy of 2 protein peaks (4581 Da and 7802 Da) was 80% for predicting stage I and II NPC and 86% for predicting stage III and IV NPC.
The high sensitivity and specificity obtained by the serum protein profiling approach demonstrated that SELDI-TOF-MS combined with a tree analysis model both can facilitate discriminating between NPC and noncancer controls and can provide an innovative clinical diagnostic platform to improve the detection of NPC.
Cancer 03/2008; 112(3):544-51. · 4.77 Impact Factor
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ABSTRACT: Previous studies suggested that genetic polymorphisms in the epidermal growth factor receptor (EGFR) gene had been implicated in the susceptibility to some tumors and inflammatory diseases. EGFR has been recently implicated in vascular pathophysiological processes associated with excessive remodeling and atherosclerosis. Acute coronary syndrome (ACS) is a clinical manifestation of preceding atherosclerosis. Our purpose was to investigate the association of the EGFR polymorphism with the risk of ACS. In this context, we analyzed the HER-1 R497K and EGFR intron 1 (CA)n repeat polymorphisms in 191 patients with ACS and 210 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and direct sequencing.
There were significant differences in the genotype and allele distribution of R497K polymorphism of the EGFR gene between cases and controls. The Lys allele had a significantly increased risk of ACS compared with the Arg allele (adjusted OR = 1.49, 95% CI: 1.12-1.98, adjusted P = 0.006). However, no significant relationship between the number of (CA)n repeats of EGFR intron 1 (both alleles < 20 or any allele > or = 20) and the risk of ACS was observed (adjusted OR = 0.97, 95% CI: 0.58-1.64, adjusted P = 0.911). Considering these two polymorphisms together, there was no statistically significant difference between the two groups.
R497K polymorphism of the EGFR gene is significantly associated with the risk of ACS. Our data suggests that R497K polymorphism may be used as a genetic susceptibility marker of the ACS.
BMC Medical Genetics 02/2008; 9:74. · 2.33 Impact Factor
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ABSTRACT: Nasopharyngeal cancer (NPC) is multifactorial, and the genetic background may be a crucial etiologic factor. Transforming growth factor-beta1 (TGF-beta1) is a multifunctional cytokine, it promotes tumor growth and metastasis in later stages of phase of cancer development. Variations in the DNA sequence in the TGF-beta1 gene may lead to altered TGF-beta1 production and/or activity, and so this can modulate an individual's susceptibility to NPC. To test this hypothesis, we investigated the association of the TGF-beta1 polymorphisms and their haplotypes with the risk of NPC in a Chinese population.
We analyzed 2 single nucleotide polymorphisms (SNPs) of TGF-beta1 gene promoter -509C/T and 869T/C (Leu10Pro) at exon one in 108 patients with NPC and 120 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy.
There were significant differences in the genotype and allele distribution of -509C/T and 869T/C (Leu10Pro) polymorphisms of the TGF-beta1 gene among cases and controls. The -509T and 869C alleles carriers were associated with a significantly increased risk of NPC as compared with the non-carriers (OR=1.64, 95% CI, 1.13-2.39, P=0.009 and OR=1.70, 95% CI, 1.17-2.46, P=0.006, respectively). Consistent with the results of the genotyping analyses, the -509T/869C haplotype was associated with a significantly increased risk of NPC as compared with the -509C/869T haplotype (OR=1.68; 95% CI, 1.14-2.48; P=0.009).
TGF-beta1 -509C/T and 869T/C polymorphisms, and their haplotypes are significantly associated with the risk of NPC. Our data suggests that TGF-beta1 -509C/T and 869T/C polymorphisms could be used as genetic susceptibility markers of the NPC.
Clinica Chimica Acta 06/2007; 380(1-2):165-9. · 2.54 Impact Factor
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Journal of Forensic Sciences 08/2004; 49(4):845-6. · 1.23 Impact Factor
