• Title, Summary, Keyword: polymorphisms

Search Result 1,687, Processing Time 0.04 seconds

Meta-analysis of Association Studies of CYP1A1 Genetic Polymorphisms with Digestive Tract Cancers Susceptibility in Chinese

  • Liu, Chang;Jiang, Zheng;Deng, Qian-xi;Zhao, Ya-nan
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.11
    • /
    • pp.4689-4695
    • /
    • 2014
  • Background: A great number of studies have shown that cytochrome P450 1A1 (CYP1A1) genetic polymorphisms, CYP1A1 Msp I and CYP1A1 Ile/Val, might be risk factors for digestive tract cancers, including esophageal cancer (EC), gastric cancer (GC), hepatic carcinoma (HC), as well as colorectal cancer (CC), but the results are controversial. In this study, a meta-analysis of this literature aimed to clarify associations of CYP1A1 genetic polymorphisms with digestive tract cancers susceptibility in Chinese populations. Materials and Methods: Eligible case-control studies published until December 2013 were retrieved by systematic literature searches from PubMed, Embase, CBM, CNKI and other Chinese databases by two investigators independently. The associated literature was acquired through deliberate search and selection based on established inclusion criteria. Fixed-effects or random-effects models were used to estimate odds ratios (ORs and 95%CIs). The meta-analysis was conducted using Review Manager 5.2 and Stata 12.0 softwares with stability evaluated by both stratified and sensitivity analyses. Moreover, sensitivity analysis and publication bias diagnostics confirmed the reliability and stability. Results: Eighteen case-control studies with 1,747 cases and 2,923 controls were selected for CYP1A1 MspI polymorphisms, and twenty case-control studies with 3, 790 cases and 4, 907 controls for the CYP1A1 Ile/Val polymorphisms. Correlation associations between CYP1A1 Ile/Val polymorphisms and digestive tract cancers susceptibility were observed in four genetic models in the meta-analysis (GG vs AA:OR= 2.03, 95%CI =1.52- 2.72; AG vs AA: OR=1.26, 95%CI =1.07-1.48; [GG+AG vs AA] :OR =1.42, 95%CI=1.20-1.68, [GG vs AA+AG]:OR=1.80, 95%CI =1.40-2.31). There was no association between CYP1A1 Msp I polymorphisms and digestive tract cancers risk. Subgroup analysis for tumor type showed a significant association of CYP1A1 Ile/Val genetic polymorphisms with EC in China. However, available data collected by the study failed to reveal remarkable associations of GC or HC with CYP1A1 Ile/Val genetic polymorphisms and EC, GC or CC with CYP1A1 MspI genetic polymorphisms. Conclusions: Our results indicated that CYP1A1 Ile/Val genetic polymorphisms, but not CYP1A1 Msp I polymorphisms, are associated with an increased digestive tract cancers risk in Chinese populations. Additional well-designed studies, with larger sample size, focusing on different ethnicities and cancer types are now warranted to validate this finding.

Do VDR Gene Polymorphisms Contribute to Breast Cancer?

  • Shaikh, Fouzia;Baig, Saeeda;Jamal, Qamar
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.2
    • /
    • pp.479-483
    • /
    • 2016
  • Breast cancer is the first or second leading cancer among females across the globe. A large number of studies have been conducted to assess any relationship between vitamin D receptor (VDR) gene polymorphisms and breast cancer development. Epidemiological studies have indicated that ethnic traits exhibited by a group of people with a common ancestry and culture, alter the link between VDR gene and breast cancer. It has been hypothesized that VDR polymorphisms have the capacity to impact both on incidence of breast cancer occurrence and to predict its outcome. A survey was here conducted to assess and compare the impact of vitamin D receptor gene polymorphisms Fok1, Bsm1, Taq1, Apa1 and poly (A) on development of breast cancer. Information was obtained from electronic databases including PubMed and Google Scholar for articles published during the period from 1996 to 2015. This search was achieved by using the terms "genetics", "breast cancer", "VDR gene", "polymorphisms". However, due to inconsistent results, no conclusive statements could be presented about the significance of the VDR genotype as far as the development of breast carcinoma is concerned.

Interaction between thyroglobulin and ADAMTS16 in premature ovarian failure

  • Pyun, Jung-A;Kim, Sunshin;Kwack, KyuBum
    • Clinical and Experimental Reproductive Medicine
    • /
    • v.41 no.3
    • /
    • pp.120-124
    • /
    • 2014
  • Objective: The aim of the present study was to examine whether interactions between polymorphisms in the thyroglobulin and ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16) genes are associated with the development of premature ovarian failure (POF). Methods: A total of 75 patients with POF and 196 controls were involved in this study. We used a GoldenGate assay to genotype single nucleotide polymorphisms (SNPs). Logistic regression analysis was performed to identify POF-associated polymorphisms and synergistic interactions between polymorphisms in the thyroglobulin and ADAMTS16 genes. Results: Single gene analyses using logistic regression analysis showed no significant association between polymorphisms in the two genes and POF. In the results from interaction analyses, we found seven synergistic interactions between the polymorphisms in thyroglobulin and ADAMTS16, although there was no combination showing p-values lower than the significant threshold using the Bonferroni correction. When the AG genotype was present at the rs853326 missense SNP, the A and G alleles at the tagging SNPs rs16875268 and rs13168665 showed significant interactions (odds ratios=5.318 and 16.2 respectively; 95% confidence intervals, 1.64-17.28 and 2.08-126.4; p=0.0054 and 0.0079). Conclusion: Synergistic interactions between polymorphisms in the thyroglobulin and ADAMTS16 genes were associated with an increased risk of POF development in Korean women.

GENETIC POLYMORPHISMS OF THE GLUTATHIONE S-TRANSFERASE AND CYP1A1 GENES IN KOREAN ORAL SQUAMOUS CELL CARCINOMA (한국인 구강 편평세포암에서 Glutathione S-transferase와 CYP1A1 유전자의 다형성)

  • Cha, In-Ho;Kwon, Jong-Jin;Park, Kwang-Kyun
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
    • /
    • v.28 no.5
    • /
    • pp.364-371
    • /
    • 2002
  • Many chemical compopunds are converted into reactive electrophilic metabolites by the oxidative(Phase I) enzymes, which are mainly cytochrome P-450 enzyme(CYPs). Phase II conjugating enzymes, such as glutathione S-transferase(GST), usually act as inactivation of enzymes. Genetic polymorphisms have been found to be associated with increased susceptibility to cancer of the lung, bladder, breast and colorectal. Many of the polymorphic genes of carcinogen metabolism show considerably different type of cancer among different ethnic groups as well as individuals within the same group. The aim of this study is (1) to establish the frequencies of genetic polymorphisms of GSTM1 and CYP1A1 in Korean oral squamous cell carcinoma(SCC), (2) to associate oral SCC with the risk of these genetic polymorphisms. The genetic polymorphisms of the GSTM1 and the CYP1A1 genes among 50 Korean oral SCC were analyzed using polymerase chain reaction(PCR). The results suggest that the homozygote and the mutant type of CYP1A1 MspI polymorphisms may be associated with genetic susceptibility to oral SCC in Korean. A combination of the GSTM1 null type with the homozygote(m1/m1), and the mutant(m2/m2) type of CYP1A1 MspI polymorphisms showed a relatively high risk of oral SCC in Korean. In the smoking group, the GSTM1 wild genotype may be the high risk factor of oral SCC in Korean. These data coincide with the hypothesis which states that different susceptibility to cancer of genetic polymorphisms exist among different ethnic group and different types of human cancer.

A Study of Single Nucleotide Polymorphisms of Tumour Necrosis Factor α-1031 and Tumour Necrosis Factor β+ 252 in Chronic Rhinosinusitis

  • Misron, Khairunnisak;Ab Hamid, Suzina Sheikh;Ahmad, Azlina;Ramli, Ramiza Ramza
    • Clinical and Experimental Otorhinolaryngology
    • /
    • v.10 no.3
    • /
    • pp.241-247
    • /
    • 2017
  • Objectives. This case-controlled study aimed to identify the association of tumor necrosis factor $(TNF){\alpha}-1031$ and $TNF{\beta}+252$ gene polymorphisms between chronic rhinosinusitis (CRS) and healthy controls. Another purpose of this study was to investigate the associations of these gene polymorphisms with factors related to CRS. Methods. All deoxyribonucleic acid (DNA) samples were genotyped for $TNF{\alpha}-1031$ and $TNF{\beta}+252$ genes by mean of polymerase chain reaction (PCR) and restriction fragment length polymorphisms (RFLP). The statistical analysis were carried out using chi-square test or Fisher exact test to determine the associations of these gene polymorphisms in CRS. Multiple logistic regression was performed to evaluate the associations of these gene polymorphisms in CRS and its related risk factors. Results. The genotype and allele frequencies of $TNF{\alpha}-1031$ and $TNF{\beta}+252$ gene did not show any significant associations between CRS and healthy controls. However, a significantly statistical difference of $TNF{\alpha}-1031$ was observed in CRS participants with atopy (P-value, 0.045; odds ratio, 3.66) but not in CRS with asthma or aspirin intolerance. Conclusion. Although the presence of $TNF{\alpha}-1031$ and $TNF{\beta}+252$ gene polymorphisms did not render any significant associations between CRS and healthy control, this study suggests that $TNF{\alpha}-1031$ gene polymorphisms in CRS patients with atopy may be associated with increase susceptibility towards CRS.

Distribution and Haplotype Associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln Polymorphisms with Nasopharyngeal Carcinoma in the Malaysian Population

  • Visuvanathan, Shaneeta;Chong, Pei-Pei;Yap, Yoke-Yeow;Lim, Chin-Chye;Tan, Meng-Kuan;Lye, Munn-Sann
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.6
    • /
    • pp.2747-2751
    • /
    • 2014
  • Background: DNA repair pathways play a crucial role in maintaining the human genome. Previous studies associated DNA repair gene polymorphisms (XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln) with nasopharyngeal carcinoma. These non-synonymous polymorphisms may alter DNA repair capacity and thus increase or decrease susceptibility. The present study aimed to determine the genotype distribution of XPD codon 751, XRCC1 codon 280 and codon 399 polymorphisms and haplotype associations among NPC cases and controls in the Malaysian population. Materials and Methods: We selected 157 NPC cases and 136 controls from two hospitals in Kuala Lumpur, Malaysia for this study. The polymorphisms studied were genotyped by PCR-RFLP assay and allele and genotype frequenci es, haplotype and linkage disequilibrium were determined using SNPstat software. Results: For the XPD Lys751Gln polymorphism, the frequency of the Lys allele was higher in cases than in controls (94.5% versus 85.0%). For the XRCC1 Arg280His polymorphism, the frequency of Arg allele was 90.0% and 89.0% in cases and controls, respectively and for XRCC1 Arg399Gln the frequency of the Arg allele was 72.0% and 72.8% in cases and controls respectively. All three polymorphisms were in linkage disequilibrium. The odds ratio from haplotype analysis for these three polymorphisms and their association with NPC was 1.93 (95%CI: 0.90-4.16) for haplotype CGC vs AGC allele combinations. The global haplotypte association with NPC gave a p-value of 0.054. Conclusions: Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer.

Association of Estrogen Receptor Alpha and Interleukin 6 Polymorphisms with Lymphovascular Invasion, Extranodal Extension, and Lower Disease-Free Survival in Thai Breast Cancer Patients

  • Sa-Nguanraksa, Doonyapat;Suntiparpluacha, Monthira;Kulprom, Anchalee;Kummalue, Tanawan;Chuangsuwanich, Tuenjai;Avirutnan, Panissadee;O-Charoenrat, Pornchai
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.6
    • /
    • pp.2935-2940
    • /
    • 2016
  • Breast cancer is the most frequent type of cancer diagnosed among women worldwide and also in Thailand. Estrogen and estrogen receptors exert important roles in its genesis and progression. Several cytokines have been reported to be involved in the microenvironment that promotes distant metastasis via modulation of immune and inflammatory responses to tumor cells. Estrogen receptor genetic polymorphisms and several cytokines have been reported to be associated with breast cancer susceptibility and aggressiveness. To investigate roles of genetic polymorphisms in estrogen receptor alpha (ESR1) and interleukin 6 (IL6), breast cancer patients and control subjects were recruited from the Division of Head, Neck and Breast Surgery (Siriraj Hospital, Bangkok, Thailand). Polymorphisms in ESR1 (rs3798577) and IL6 (rs1800795 and rs1800797) were evaluated by real-time PCR in 391 breast cancer patients and 79 healthy controls. Associations between genetic polymorphisms and clinicopathological data were determined. There was no association between genetic polymorphisms and breast cancer susceptibility. However the ESR1 rs3798577 CT genotype was associated with presence of lymphovascular invasion (OR=2.07, 95%CI 1.20-3.56, p=0.009) when compared to the TT genotype. IL6 rs1800795 CC genotype was associated with presence of extranodal extension (OR= 2.30, 95%CI 1.23-4.31, p=0.009) when compared to the GG genotype. Survival analysis showed that IL6 rs1800797 AG or AA genotypes were associated with lower disease-free survival. These findings indicate that polymorphisms in ESR1 and IL6 contribute to aggressiveness of breast cancer and may be used to identify high risk patients.

Muscle-Specific Creatine Kinase Gene Polymorphisms in Korean Elite Athletes

  • Kang, Byung-Yong;Kang, Chin-Yang;Lee, Kang-Oh
    • Toxicological Research
    • /
    • v.19 no.2
    • /
    • pp.115-121
    • /
    • 2003
  • In view of the importance of muscle-specific creatine kinase (CKMM) gene as a genetic factor for athletic performance, we investigate the relationship between elite athletic performance and two restriction fragment length polymorphisms (Ncol and Taql RFLPs) in the CKMM gene. Genomic DNA was extracted from white blood cells of 98 unrelated male Korean elite athletes and 04 sedentary controls, respectively. Two genetic polymorphisms in the CKMM gene were detected by the polymerase chain reaction and the digestion with restriction endonucleases, Ncol and Taql, respectively. There were no significant associations between two genetic polymorphisms in the CKMM gene and elite athletic performance or clinical parameters in our subjects. Therefore, these findings suggest that two genetic polymorphisms in the CKMM gene may not be useful as genetic markers to predict the athletic performance in male Koreans.

Common MCL1 polymorphisms associated with risk of tuberculosis

  • Shin, Hyoung-Doo;Cheong, Hyun-Sub;Park, Byung-Lae;Kim, Lyoung-Hyo;Han, Chang-Su;Lee, In-Hee;Park, Seung-Kyu
    • BMB Reports
    • /
    • v.41 no.4
    • /
    • pp.334-337
    • /
    • 2008
  • MCL1 expression has been found to be up-regulated during infection with virulent Mycobacterium tuberculosis. We investigated the genetic polymorphisms in MCL1 as potential candidate gene for a host genetic study of clinical TB infection. We have sequenced exons and their boundaries of MCL1, including the 1.5 kb promoter region, to identify polymorphisms, and eight polymorphisms were identified. The genetic associations of polymorphisms in MCL1 with clinical TB patients (n=486) and normal controls (n=370) were analyzed. Using statistical analyses, one common promoter polymorphism (MCL1-324C>A) which is absolutely linked with three other SNPs in the promoter and 3'UTR regions, were found to be significantly associated with increased risk of clinical TB disease. The frequency of the A-bearing genotype of -324C>A was higher in clinical TB patients than in normal controls (P=0.0008, OR=1.68). Our findings suggest that polymorphisms in MCL1 might be one of genetic factors for the risk of clinical tuberculosis development.

Quantitative Assessment of the Effects of MMP-2 Polymorphisms on Lung Carcinoma Risk

  • Guo, Xiao-Tong;Wang, Jun-Feng;Zhang, Lin-You;Xu, Guang-Quan
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.13 no.6
    • /
    • pp.2853-2856
    • /
    • 2012
  • Background: Previous studies assessing associations between matrix metalloproteinase 2 (MMP-2) polymorphisms and lung cancer risk reported conflicting results. A meta-analysis was therefore performed to derive a more precise estimation. Method: Case-control studies assessing associations between MMP-2 C735T and C1306T polymorphisms and lung cancer risk were included. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were estimated. Results: 7 studies with a total of 3,189 lung cancer cases and 3,013 controls were finally included into this meta-analysis. Overall, the MMP-2 C735T polymorphism was associated with lung cancer risk under the homozygote model (CC versus TT: OR =1.44, 95% CI = 1.03-2.02, $I^2$ = 0%), while the MMP-2 C1306T polymorphism also associated demonstrated links with all four models (all P values less than 0.05). Subgroup analyses by race suggested obvious associations between MMP-2 C735T and C1306T polymorphisms and lung cancer risk in Asians but not in Caucasians. There was no evidence for publication bias. Conclusion: Currently available evidence supports teh conclusion that MMP-2 C735T and C1306T polymorphisms influence susceptibility to lung cancer in Asians.