• Asian Pacific Journal of Cancer Prevention
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• v.13 no.8
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• pp.3937-3942
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• 2012

Background: Many studies have investigated possible association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and ovarian cancer risk, but the impact is still unclear owing to the obvious inconsistencies. This study was performed to quantify the strength of the association with a metaanalysis. Methods: We searched the PubMed, Embase, and CNKI databases for studies relating the association between MTHFR C677T polymorphism and ovarian cancer risk and estimated summary odds ratios (ORs) with confidence intervals (CIs) for assessment. Results: Finally, eight studies with a total of 3,379 ovarian cancer cases and 4,078 controls were included into this meta-analysis. Overall the showed that MTHFR C677T polymorphism was not associated with ovarian cancer risk under all genetic models ($OR_{T\;versus\;C}$ = 1.03, 95%CI 0.90-1.18; $OR_{TT\;versus\;CC}$ = 1.08, 95%CI 0.79-1.47; $OR_{TT\;versus\;TC+CC}$ = 1.05, 95%CI 0.80-1.37; $OR_{TT+TC\;versus\;CC}$ = 1.05, 95%CI 0.86-1.21). Meta-analyses of studies with confirmation of HWE also showed no significant association. Subgroup analyses by ethnicity showed there was no significant association in the Caucasians but MTHFR C677T polymorphic variant T contributed to increased risk of ovarian cancer in East Asians. No evidence of publication bias was observed. Conclusion: Meta-analyses of available data show that MTHFR C677T polymorphism is not associated with ovarian cancer risk in Caucasians, but the MTHFR polymorphic variant T may contribute to increased risk in East Asians.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.9
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• pp.4315-4320
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• 2012

Background: The P53 tumor suppressor gene plays a pivotal role in maintaining cellular homeostasis by preventing the propagation of genome mutations. P53 in its transcriptionally active form is capable of activating distinct target genes that contribute to either apoptosis or growth arrest, like P21. However, the MDM2 gene is a major negative regulator of P53. Single nucleotide polymorphisms (SNP) in codon Arg72Pro of P53 results in impairment of the tumor suppressor activity of the gene. A similar effect is caused by a SNP in codon 31 of P21. In contrast, a SNP in position 309 of MDM2 results in increased expression due to substitution of thymine by guanine. All three polymorphisms have been associated with increased risk of tumorigenesis. Aim of the study: We aimed to study the prevalence of SNPs in the P53 pathway involving the three genes, P53, P21 and MDM2, among acute myeloid leukemia (AML) patients and to compare it to apparently normal healthy controls for assessment of impact on risk. Results: We found that the P21 ser31arg heterozygous polymorphism increases the risk of AML (P value=0.017, OR=2.946, 95% CI=1.216-7.134). Although the MDM2 309G allele was itself without affect, it showed a synergistic effect with P21 ser/arg polymorphism (P value=0.003, OR=6.807, 95% CI=1.909-24.629). However, the MDM2 309T allele abolish risk effect of the P21 polymorphic allele (P value=0.71). There is no significant association of P53 arg72pro polymorphism on the risk of AML. Conclusion: We suggest that SNPs in the P53 pathway, especially the P21 ser31arg polymorphism and combined polymorphisms especially the P21/MDM2 might be genetic susceptibility factors in the pathogenesis of AML.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6767-6772
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• 2014

Several studies have suggested associations between MDM2 (mouse double minute 2 homolog) polymorphisms and leukemia risk, but they reported contradictory results. For better understanding of the effect of MDM2 T309G polymorphism on leukemia risk, we performed a meta-analysis. All eligible studies were identified through a search of PubMed, Web of Science, EMBASE, and Chinese Biomedical Literature (CBM) databases before May 2014. Assessment of associations between the MDM2 T309G polymorphism and leukemia risk was conducted by odds ratios (ORs) and 95% confidence intervals (95% CIs). Finally, a total of 11 publications covering 12 case-control studies with 2, 362 cases and 5, 562 controls concerning MDM2 T309G polymorphism with respect to leukemia were included in the meta-analysis. Significant associations were found between MDM2 T309G polymorphism and leukemia risk in four models in overall populations (G vs T: OR=1.29, 95% CI=1.11-1.49, p=0.001; GG vs TT: OR=1.67, 95% CI=1.21-2.30, p=0.002; GG vs TG/TT: OR=1.56, 95% CI=1.21-2.00, p=0.001; GG/TG vs TT: OR=1.28, 95% CI=1.05-1.57, p=0.015). In the sub-group analysis according to ethnicity, increased leukemia risks were observed in three genetic models among Asians but not Caucasians. In conclusion, the results of our meta-analysis suggest that the MDM2 T309G polymorphism can increase the risk of leukemia, especially among Asian populations.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.20
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• pp.8741-8747
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• 2014

Purpose: We aimed to investigate the associations between polymorphisms of interleukin-1A (IL-1A), IL-1B, and IL-1 receptor antagonist (IL-1RN) and prostate cancer (PCa) risk. Materials and Methods: A comprehensive search for articles of MEDLINE and EMBASE databases and bibliographies of retrieved articles published up to August 3, 2014 was performed. Methodological quality assessment of the trials was based on a standard quality scoring system. The meta-analysis was performed using STATA 12.0. Results: We included 9 studies (1 study for IL-1A, 5 studies for IL-1B, and 3 studies for IL-1RN), and significant association was found between polymorphisms of IL-1B-511 (rs16944) as well as IL-1B-31 (rs1143627) and PCa risk. IL-1B-511 (rs16944) polymorphism was significantly associated with PCa risk in homozygote and recessive models, as well as allele contrast (TT vs CC: OR, 0.74; 95%CI, 0.58-0.94; P=0.012; TT vs TC+CC; OR, 0.79; 95%CI, 0.63-0.98; P=0.033; T vs C: OR, 0.86; 95%CI, 0.77-0.96; P=0.008). The association between IL-1B-31 (rs1143627) polymorphism and PCa risk was weakly significant under a heterozygote model (OR, 1.35; 95%CI, 1.00-1.80; P=0.047). Conclusions: Sequence variants in IL-1B-511 (rs16944) and IL-1B-31 (rs1143627) are significantly associated with PCa risk, which provides additional novel evidence that proinflammatory cytokines and inflammation play an important role in the etiology of PCa.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.125-132
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• 2010

Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

• Proceedings of the Computational Structural Engineering Institute Conference
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• 2009.04a
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• pp.392-395
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• 2009

응답면 기법을 활용하여 댐구조물과 같은 사회간접자본 시설물의 파괴확률을 구할 수 있다. 본 위험성 평가과정에서 응답면기법으로 구성한 한계상태 방정식을 유전자알고리즘의 적합도 방정식으로 사용하면, 핵심타입이나 지반종류, 지반다짐정도 등의 입력설계변수의 최적화 과정 속도를 더욱 신속화 시킬 수 있다. 제안된 응답면 기법과 유전자알고리즘의 복합해석기법은 신뢰성기반 최적화프로그램으로 기존의 유전자알고리즘의 수렴속도를 더욱 빠르게 하여주고, 특히 입력변수의 상하한계가 불확실한 경우에도 만족스러운 수렴성을 보장하여준다. 한계상태 방정식의 목표신뢰도 지수를 변화시켜면 해당하는 입력변수의 최적값을 출력하여주므로, 입력변수의 제약조건에 가격함수와 같은 가중치를 벌칙함수로 부여하면 가격최적화 프로그램으로 작용하게 되며, 시설물 운영자에게는 목표신뢰도에 대한 유지관리 기법과 정도를 의사결정 할 수 있도록 하여주는 기능을 가지게 된다. 조사된 많은 댐구조물의 파괴모드가 시간에 독립적으로 시공중 또는 시공완료 후 5년이내에 다수 발생하는바, 파괴모드를 조사하고 중요한 파괴모드인 파이핑 현상에 대해서 파괴확률을 계산하고 최적유지관리를 위한 개선된 유전자알고리즘 최적화 연산을 수행하였다. 기존 댐구조물과 같이 설계변수와 하중의 변동성을 알기가 어려운 경우에 유지관리비용 최소화를 위해서 본 제안 프로그램의 확장된 버젼은 중요한 기준을 제시하여줄 것으로 기대한다.

• Journal of Environmental Health Sciences
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• v.36 no.1
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• pp.1-13
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• 2010

Evidences supporting gene-environment interaction are accumulating in terms of environmental exposure including lifestyle factors and related genetic variants. One form of defense mechanism against cancer development involves a series of genes whose role is to metabolize (activation/detoxification) and excrete potentially toxic compounds and to repair subtle mistakes in DNA. The purpose of this article is to provide a brief review of the notion of gene-environment interaction, environmental/occupational carcinogens and related cancers, and previous studies of gene-environment interaction on cancers caused by exposure to carcinogenesis. With a number of studies on the interaction between lifestyle factors (e.g., smoking and diet) and genetic polymorphisms in genes involved in xenobiotic metabolism and DNA repair excluded, only several studies have been conducted on the interactive effects between polymorphisms of CYPs, GSTs, ERCCs, XRCCs and environmental/occupational carcinogens such as vinyl chloride, benzo[a]pyrene, and chloroform on carcinogenesis or genotoxicity. Future studies may need to be conducted with sufficient number of subjects and based on occupational cohorts to provide useful information in terms of advanced risk assessment and regulation of exposure level.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.94-99
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• 2008

Congenital malformation is observed in about 2-5% of newborns and is a leading cause of infant mortality. The prognosis of malformation is dictated mainly by proper treatment followed by correct diagnosis at an early age. In practice, etiological consideration and classification of a malformation is critical for diagnosis. Malformations can be classified as belonged to minor or major anomaly. It is clinically important to clarify the pathogenesis of the anomalies among malformation, deformation, disruption, and dysruption. Genetic counseling aids this process by helping patients or family members understand and the nature of the malformation and risk assessment.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.20-25
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• 2016

Purpose: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea. Materials and Methods: We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea. Results: We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people. Conclusion: We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.

• Biomedical Science Letters
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• v.27 no.4
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• pp.317-322
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• 2021

Diabetes is mainly evaluated by fasting blood sugar. The genetic and environmental factors influence the development of type 2 diabetes. In this study, the relationship between diabetes and family history of diabetes in Koreans was analyzed in consideration of body mass index and age. The study subjects were 4,274 subjects who received a medical examination at a university hospital. The main statistical analysis method was multiple logistic regression analysis. In addition, subjects were analyzed by dividing them by gender and the median of age and body mass index. Diabetes prevalence was 8.9% of all subjects, and subjects with a family history of diabetes were 14.5%. The risk of diabetes was 2.80 times higher in subjects with a family history of diabetes than subjects without a family history of diabetes. In addition, in younger subjects, the risk of diabetes was 3.36 times higher in subjects with a family history of diabetes compared with subjects without a family history of diabetes. In this study, the family history of diabetes was significantly associated with diabetes. The relationship between family history of diabetes and diabetes was slightly higher in the younger group than in the older group. In order to obtain an accurate assessment of the association between diabetes and family history of diabetes, further prospective cohort study in the future is necessary.