• Asian Pacific Journal of Cancer Prevention
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• 제16권9호
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• pp.3645-3651
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• 2015

Background: Previous studies evaluating the association between the xeroderma pigmentosum group G (XPG) Asp1104His polymorphism and head and neck cancer susceptibility have proven controversial. This meta-analysis of the literature was performed to obtain a more precise estimation of the relationship. Materials and Methods: We systematically searched PubMed, Embase and Web of Science with a time limit of Dec 18, 2014. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association. Results: We performed a meta-analysis of eight published case-control studies, including 3,621 cases and 5,475 controls. Overall, no significant association was found between the XPG Asp1104His polymorphism and head and neck cancer susceptibility under all genetic models. In the subgroup analysis by ethnicity, the XPG Asp1104His polymorphism had statistically significant association with elevated head and neck cancer risk under CC vs GG (OR=1.24, 95% CI=1.00~1.54) and the recessive model (OR=1.22, 95%CI=1.01~1.46) in Asian populations. A similar result was found under CC vs GG (OR =1.22, 95%CI=1.01~1.47) in the population based subgroup by source of control. When performed by tumor site, the XPG Asp1104His polymorphism had statistically significant association with elevated laryngeal cancer under all genetic models (CC vs GG: OR=1.59, 95% CI=1.16~2.19; GC vs GG: OR=1.38, 95%CI=1.10~1.72; dominant model: OR=1.42, 95% CI=1.15~1.74; recessive model: OR=1.36, 95% CI=1.02~1.81). Conclusions: This meta-analysis suggested that the XPG Asp1104His polymorphism is a risk factor for head and neck cancer susceptibility, especially for laryngeal cancer and in Asian populations.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권5호
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• pp.455-469
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• 2021

Purpose: The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity. Methods: Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were analyzed for the effects on NAFLD. Results: Among 126 enrolled subjects, 84 in the case group had NAFLD and 42 in the control group did not. The two groups had similar demographic distribution. NAFLD was associated with abnormal liver enzymes and elevated triglycerides and cholesterol (p<0.05). Children with NAFLD had higher percentage of PNPLA3 GG genotype at 70.2% versus 31.0% in non-NAFLD, and lower MBOAT7 TT genotype at 4.8% versus 16.7% in non-NAFLD (p<0.05). PNPLA3 rs738409 C>G had an additive effect in NAFLD; however, MBOAT7 rs641738 C>T had no effects alone or synergistically with PNPLA3 polymorphism. NAFLD risk increased 3.7-fold in subjects carrying PNPLA3 GG genotype and decreased in MBOAT7 TT genotype. Conclusion: In Hispanic children with obesity, PNPLA3 rs738409 C>G polymorphism increased the risk for NAFLD. The role of MBOAT7 rs641738 variant in NAFLD is less evident.

• Asian Pacific Journal of Cancer Prevention
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• 제17권8호
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• pp.4107-4111
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• 2016

Background: Oral cancers account for approximately 2% of all cancers diagnosed each year; however, the vast majority (80%) of the affected individuals are smokers whose risk of developing a lesion is five to nine times greater than that of non-smokers. Tobacco smoke contains numerous carcinogens that cause DNA damage, including oxidative lesions that are removed effectively by the base-excision repair (BER) pathway, in which poly (ADP-ribose) polymerase 1 (PARP-1), plays key roles. Genetic variations in the genes encoding DNA repair enzymes may alter their functions. Several studies reported mixed effects on the association between PARP-1 variants and the risk of cancer development. Till now no reported studies have investigated the association between PARP-1 variants and oral squamous cell carcinoma (OSCC) risk in an Indian population. Materials and Methods: In the present case control study 100 OSCC patients and 100 matched controls were genotyped using PARP1 single nucleotide peptides (SNP's) rs1136410 and rs3219090 using TaqMan assays. Results: The results indicated significantly higher risk with PARP1 rs1136410 minor allele "C" (OR=1.909; p=0.02942; CI, 1.060-3.439). SNP rs1136410 also showed significantly increased risk in patients with smoking habit at C/C genotype and at minor allele C. Conclusions: The PAPR-1 Ala762Val polymorphism may play a role in progression of OSCC. Larger studies with a greater number of samples are needed to verify these findings.

• Asian Pacific Journal of Cancer Prevention
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• 제15권24호
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• pp.10675-10681
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• 2015

Background: The ataxia telangiectasia mutated (ATM) protein and p53 play key roles in sensing and repairing radiation-induced DNA double strand breaks (DSBs). Accumulating epidemiological evidence indicates that functional genetic variants in ATM and TP53 genes may have an impact on the risk of radiotherapy-induced side effects. Here we performed a meta-analysis to investigate the potential interaction between ATM Asp1853Asn and TP53 polymorphisms and risk of radiotherapy-induced adverse effects quantitatively. Materials and Methods: Relevant articles were retrieved from PubMed, ISI Web of Science and the China National Knowledge Infrastructure (CNKI) databases. Eligible studies were selected according to specific inclusion and exclusion criteria. Odds ratios (ORs) and 95% confidence intervals (CIs) were pooled to estimate the association between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and risk of radiotherapy adverse effects. All analyses were performed using the Stata software. Results: A total of twenty articles were included in the present analysis. In the overall analysis, no significant associations between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and the risk of radiotherapy adverse effects were found. We conducted subgroup analysis stratified by type of cancer, region and time of appearance of side effects subsequently. No significant association between ATM Asp1853Asn and risk of radiotherapy adverse effects was found in any subgroup analysis. For TP53 Arg72Pro, variant C allele was associated with decreased radiotherapy adverse effects risk among Asian cancer patients in the stratified analysis by region (OR=0.71, 95%CI: 0.54-0.93, p=0.012). No significant results were found in the subgroup analysis of tumor type and time of appearance of side effects. Conclusions: The TP53 Arg72Pro C allele might be a protective factor of radiotherapy-induced adverse effects among cancer patients from Asia. Further studies that take into consideration treatment-related factors and patient lifestyle including environmental exposures are warranted.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제13권1호
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• pp.15-23
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• 2002

소아기 외상이 아동의 발달에 미치는 부정적인 결과를 예방하는 resilience factor와 부정적인 결과를 더욱 증폭시키는 위험인자에 대한 지식은 이 분야의 전향적인 연구의 부재와 소아기 외상과 발달과정, 아동의 환경 등 다양한 측면들의 유기적인 관계에 대한 이해의 어려움으로 아직은 초보적인 단계이다. 이러한 소아기 외상의 연구에서의 개념적, 연구 방법론적인 어려움은 현재까지 발표된 연구들의 결과가 일관적이지 못하고 때로는 상반적이기도 한 면으로 나타나기도 한다. 이러한 어려움에도 불구하고 지금까지 발표된 연구들을 종합하여 보면 몇 가지 중요한 공통적인 결론을 도출할 수가 있다. 즉 사춘기 전에는 여아가, 사춘기 후나 영아에서는 남아가, 사회경제적 지위가 높은 가정의 아동, 기질적인 문제가 없는 경우, 쉬운 기질, 조기 이별이나 상실의 경험이 없는 경우, 외상을 받은 시기가 어릴수록, 문제 해결능력이 좋은 경우, 높은 자존감, internal locus of control, 우수한 대처 능력, 대인 관계를 인지 할 수 있는 능력, 놀이를 할 수 있는 능력, 유머 감각이 있는 경우, 유능한 부모를 가지고 있거나 혹은 적어도 한명의 보호자와 따뜻한 관계를 맺고 있을 때, 교육 정도가 높거나 조직적인 종교 활동에 참여 하고 있는 아동들은 외상을 경험하였을 때 외상의 부정적인 결과에 대하여 resilient하게 된다. 이러한 결과는 아동기 외상의 위험 및 보호인자가 서로 독립되어 있기 보다는 상호작용을 하는 유기적인 관계이며, 각 요소가 아동의 발달 단계, 아동 자신 및 그들의 가족과 환경에 따라 다양하게 작용하고, stressor의 영향은 그 강도에 따라 다양한 작용을 보이며 일부 위험요소와 보호요소는 상대방의 효과를 상승시키거나 감소시키는 등 복잡한 상호 관계를 보이는 것을 시사한다. 앞으로 소아기 외상과 발달 정신병리와의 관계, 위험 및 보호인자에 대한 포괄적인 이해 및 이를 바탕으로 효과적이며 효율적인 예방 및 치료적인 개입이 가능해지기 위해서는 stress가 정상적인 신경발달에 미치는 영향, 유전적인 소인과 부모의 요인과 같은 개개인의 소인에 대한 차이점, 신경조절의 resilience 연구, 소아기 외상의 예방과 뇌의 plasticity에 관한 연구가 같이 진행되어야 할 것이다.

• 동의생리병리학회지
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• 제22권4호
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• pp.993-999
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• 2008

Ischemic brain injury such as cerebral infarction is characterized by acute local inflammatory response mediated by cytokines. The mechanism of cytokines involved in cerebral infarction progression are uncompletely revealed yet. We investigated to find out the relationship between single nucleotide polymorphism (SNP) of interleukin 4 receptor(IL4R) and Oriental Medicine therapy efficacy in patients with cerebral infarction for 2 weeks. Oriental Korean Medicine therapies (herbal medicine and acupuncture) were applied daily and motor functions of patients were assessed using the modified cerebral vascular accident (MCVA) scores. Genotyping for IL4R polymorphism was done by pyrosequencing analysis. In IL4R genotypes and the frequency of alleles, there was no significant difference between cerebral infarction patients (n=124) and controls group (n=175). And there was also no significant difference among good and bad responders in cerebral infarction patients. In this study the IL4R genotype might not be the risk factor or a good predictive genetic marker for good and bad responders in cerebral infarction patients in Korean. Further studies including different cytokine genes will be necessary for the exact genetic markers.

• Journal of Korean Neurosurgical Society
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• 제49권1호
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• pp.8-12
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• 2011

Objective: Ossification of the posterior longitudinal ligament (OPLL) has a strong genetic component. Specific gene polymorphisms may be associated with OPLL in several genes which regulate calcification in chondrocytes, change of extracellular collagen matrix and secretions of many growth factors and cytokines controlling bone morphogenesis. Toll-like receptor 5 (TLR5) may playa role in the pathogenesis of OPLL by intermediate nuclear factor-kappa B (NF-${\kappa}B$). The current study focused on coding single nucleotide polymorphisms (SNPs) of TLR5 for a case-control study investigating the relationship between TLR5 and OPLL in a Korean population. Methods: A total of 166 patients with OPLL and 231 controls were recruited for a case-control association study investigating the relationship between SNPs of TLR5 gene and OPLL. Four SNPs were genotyped by direct sequencing (rs5744168, rs5744169, rs2072493, and rs5744174). SNP data were analyzed using the SNPStats, SNPAnalyzer, Haploview, and Helixtree programs. Multiple logistic regression analysis with adjustment for age and gender was performed to calculate an odds ratio (OR). Results: None of SNPs were associated with OPLL in three alternative models (codominant, dominant, and recessive models; p> 0.05). A strong linkage disequilibrium block, including all 4 SNPs, was constructed using the Gabriel method. No haplotype was significantly associated with OPLL in three alternative models. Conclusion: These results suggest that Toll-like receptor 5 gene may not be associated with ossification of the posterior longitudinal ligament risk in Korean population.

• Asian Pacific Journal of Cancer Prevention
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• 제16권14호
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• pp.6155-6158
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• 2015

Background: The human leukocyte antigen-G (HLA-G) gene is highly expressed in cancer pathologies and is one strategy used by tumor cells to escape immune surveillance. A 14-bp insertion/deletion (InDel) polymorphism of the HLA-G gene has been suggested to be associated with HLA-G mRNA stability and the expression of HLA-G. The aim of present study was to assess any genetic association between this polymorphism and breast cancer among Iranian-Azeri women. Materials and Methods: In this study 227 women affected with breast cancer, in addition to 255 age-sex and ethnically matched healthy individuals as the control group, participated. Genotyping was performed using polymerase chain reaction and electrophoresis assays. The data were compiled according to the genotype and allele frequencies, compared using the Chi-square test. Statistical significance was set at P<0.05. Results: In this case-control study, no significant difference was found between the case and control groups at allelic and genotype levels, although there is a slightly higher allele frequency of HLA-G 14bp deletion in breast cancer affected group. However,when the stage I subgroup was compared with stage II plus stage III subgroup of affected breast cancer, a significant difference was seen with the 14 bp deletion allele frequency. The stage II-III subgroup patients had higher frequency of deletion allele (57.4% vs 45.8%) than stage I cases (${\chi}^2=4.16$, p-value=0.041). Conclusions: Our data support a possible action of HLA-G 14bp InDel polymorphism as a potential genetic risk factor for progression of breast cancer. This finding highlights the necessity of future studies of this gene to establish the exact role of HLA-G in progression steps of breast cancer.

• 전기학회논문지
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• 제65권7호
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• pp.1236-1241
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• 2016

Cancer has been the most frequent in Korea, and pathogenesis and progression of cancer have been known to be occurred through various causes and stages. Recently, the research of chromosomal and genetic disorder and the research about prognostic factor to predict occurrence, recurrence and progress of chromosomal and genetic disorder have been performed actively. In this paper, we analyzed DNA methylation data downloaded from TCGA (The Cancer Genome Atlas), open database, to research bladder cancer which is the most frequent among urinary system cancers. Using three level of methylation data which had the most preprocessing, 59 candidate CpG island were extracted from 480,000 CpG island, and then we analyzed extracted CpG island applying data mining technique. As a result, cg12840719 CpG island were analyzed significant, and in Cox's regression we can find the CpG island with high relative risk in comparison with other CpG island. Shown in the result of classification analysis, the CpG island which have high correlation with bladder cancer are cg03146993, cg07323648, cg12840719, cg14676825 and classification accuracy is about 76%. Also we found out that positive predictive value, the probability which predicts cancer in case of cancer was 72.4%. Through the verification of candidate CpG island from the result, we can utilize this method for diagnosing and treating cancer.

• Asian Pacific Journal of Cancer Prevention
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• 제14권4호
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• pp.2269-2272
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• 2013

Matrix metalloproteinases (MMPs) degrade various components of the extracellular matrix and functional polymorphisms in encoding genes may contribute to genetic susceptibility to many cancers. Up to now, associations between MMP-7 (-181A>G) and digestive system cancer risk have remained inconclusive. To better understand the role of the MMP-7 (-181A>G) genotype in digestive cancer development, we conducted this comprehensive meta-analysis encompassing 3,518 cases and 4,596 controls. Overall, the MMP-7 (-181A>G) polymorphism was associated with higher digestive system cancer risk on homozygote comparison (GG vs. AA, OR=1.21, 95% CI = 1.12-1.60) and in a dominant model (GG/GA vs. AA, OR=1.16, 95% CI =1.03-1.46). On subgroup analysis, this polymorphism was significantly linked to higher risks for gastric cancer (GG vs. AA, OR=1.22, 95% CI = 1.02-1.46; GA vs. AA, OR=1.82, 95% CI =1.16-2.87; GG/GA vs. AA, OR=1.13, 95% CI =1.01-1.27; GG vs. GA/AA, OR= 1.25, 95% CI = 1.06-2.39. We also observed increased susceptibility to colorectal cancer and esophageal SCC in both homozygote (OR = 1.13, 95% CI = 1.06-1.26) and heterozygote comparisons (OR = 1.45, 95% CI = 1.11-1.91). In the stratified analysis by controls, significant effects were only observed in population-based studies (GA vs. AA, OR=1.16, 95% CI=1.08-1.50; GA/AA vs. GG, OR=1.10, 95% CI=1.01-1.72). According to the source of ethnicity, a significantly increased risk was found among Asian populations in the homozygote model (GG vs. AA, OR=1.40, 95% CI=1.12-1.69), heterozygote model (GA vs. AA, OR=1.26, 95% CI=1.02-1.51), and dominant model (GG/GA vs. AA, OR=1.18, 95% CI=1.08-1.55). Our findings suggest that the MMP-7 (-181A>G) polymorphism may be a risk factor for digestive system cancer, especially among Asian populations.