• 생물정신의학
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• 제16권3호
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• pp.149-158
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• 2009

Objectives : This study was designed to investigate the association of schizophrenia and P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene in Korean patients. Methods : We analyzed P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene from their DNAs extracted from their blood in 388 Korean schizophrenic patients (male 198, female 190) and 372 control subjects(male 247, female 125). We compared the differences of genotype and allele distributions of the six polymorphisms on DTNBP1 gene between the Korean schizophrenic patient group and the normal control group. Results : There were no statistically significant differences of genotype and allele distributions of the P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene between the schizophrenic patient group and the normal control group. Conclusion : The results of this study suggest that P1320, P1325, P1635, P1655, P1763 and SNP A polymorphism on DTNBP1 gene do not have influence on the risk of the schizophnenic in the Korean population.

• 생물정신의학
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• 제11권2호
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• pp.110-116
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• 2004

Objectives:Recently, polymorphisms of several serotonin genes have been suggested to be associated with suicide, but the results are still unclear. We examined whether the T102C polymorphisms of the serotonin 2A receptor gene and the G861C polymorphisms of the serotonin 1B receptor gene were associated with suicidal behavior using drug intoxication. Methods:The subjects were 52 patients who visited emergency room with suicidal behaviors. Fifty controls were selected from healthy volunteers matched for sex and age to the suicide subjects. The polymorphisms were analyzed with TaqMan$^{(R)}$ assay using primers based on previous studies. Results:The T102C polymorphism of the serotonin 2A receptor gene showed no significant difference between the suicidal attempters and controls in both genotype and allele frequency analyses(p=0.179 and p=0.422, respectively). There was no statistically significant difference between the suicidal attempters and the controls in the G861C polymorphism of the serotonin 1B receptor gene and any significant effect of the genotype distributions or the allele frequencies was not observed(p=0.092 and p=0.987, respectively). Conclusion:These findings suggest that the T102C polymorphism in serotonin 2A receptor gene and the G861C polymorphism in serotonin 1B receptor gene are not related to the susceptibility to suicide attempts using drugs. To clarify the genetic influences of the serotonergic system on suicidal behavior, the polymorphisms of other candidate genes in the serotonergic system should be studied with larger numbers of subjects.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.4983-4988
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• 2012

The xeroderma pigmentosum complementation group C gene (XPC) has been identified as important for repairing UV-related DNA damage. Some subtle changes in this gene may impair repair efficiency and influence susceptibility to human cancers, including skin cancer. Two polymorphisms in XPC, 939A>C (rs2228001) and 499C>T (rs2228000), are considered to have possible associations with the risk of skin cancer, but the reported results have been inconsistent. Here we performed a meta-analysis of the available evidence regarding the relationship between these two polymorphisms and the risk of skin cancer. All relevant studies were searched using PubMed, Embase and Web of Science before February 2012. A total of 8 case-control studies were included in this analysis, and no convincing associations between the two polymorphisms and risk of skin cancer were observed in any of the genetic models. Stratified analyses by skin cancer type also did not detect significant associations in any subgroup. This meta-analysis suggested that the XPC 939A>C and 499C>T polymorphisms may have little involvement in susceptibility to skin cancer.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4549-4553
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• 2012

This study was designed to investigate the frequency of CYP2D6 polymorphisms and evaluate the association between genetic polymorphisms of CYP2D6 and tamoxifen therapeutic outcome in Thai breast cancer patients. We recruited 48 breast cancer patients who received adjuvant tamoxifen for evaluating CYP2D6 genetic polymorphisms using microarray-based technology. Associations between genotypes-phenotypes and disease free survival were analyzed. Median follow up time was 5.6 years. The mean age of the subjects was 50 years. The 3 common allelic frequencies were 43.8% ($^*10$), 36.5 ($^*1$) and 10.4% ($^*2$) which are related to extensive metabolizer (EM) and intermediate metabolizer (IM) with 70.8% and 29.2 %, respectively. No association between CYP2D6 genotypes and DFS was demonstrated. Nevertheless, exploratory analysis showed statistically significant shorter DFS in the IM group of post-menopause patients (HR, 6.85; 95%CI, 1.48-31.69; P=0.005). Furthermore, we observed statistically significant shorter DFS of homozygous $CYP2D6^*10$ when compared with heterozygous CYP2D6*10 and other genotypes (P=0.005). $CYP2D6^*10$ was the most common genotype in our subjects. Post-menopause patients with homozygous $CYP2D6^*10$ and IM have shorter DFS. To confirm this relationship, larger samples and comprehensively designed trials in Thailand are required.

• Asian Pacific Journal of Cancer Prevention
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• 제14권6호
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• pp.3761-3768
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• 2013

Background: The Saudi population has experienced a sharp increase in colorectal and gastric cancer incidences within the last few years. The relationship between gene polymorphisms of xenobiotic metabolizing enzymes and colorectal cancer (CRC) incidence has not previously investigated among the Saudi population. The aim of the present study was to investigate contributions of CYP1A1, CYP2E1, and GSTM1 gene polymorphisms. Materials and Methods: Blood samples were collected from CRC patients and healthy controls and genotypes were determined by polymerase chain reaction restriction fragment length polymorphism and sequencing. Results and Conclusions: $CYP2E1^*6$ was not significantly associated with CRC development (odd ratio=1.29; confidence interval 0.68-2.45). A remarkable and statistically significant association was observed among patients with $CYP1Awt/^*2A$ (odd ratio=3.65; 95% confidence interval 1.39-9.57). The $GSTM1^*0/^*0$ genotype was found in 2% of CRC patients under investigation. The levels of CYP1A1, CYP2E1 and GSTM1 mRNA gene expression were found to be 4, 4.2 and 4.8 fold, respectively, by quantitative real time PCR. The results of the present case-control study show that the studied Saudi population resembles Caucasians with respect to the considered polymorphisms. Investigation of genetic risk factors and susceptibility gene polymorphisms in our Saudi population should be helpful for better understanding of CRC etiology.

• Asian Pacific Journal of Cancer Prevention
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• 제13권8호
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• pp.4017-4023
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• 2012

Background and Aim: Polymorphisms in methylenetetrahydrofolate reductase (MTHFR) are known to be associated with predisposition for certain cancers. This study aimed to evaluate the effects of lifestyle factors, family history and genetic polymorphisms in MTHFR C677T and A1298C on rectal cancer risk and possible interactions with lifestyle factors in Northeast Thailand. Methods: A hospital-based case-control study was conducted during 2002-2006 with recruitment of 112 rectal cancer cases and 242 non-rectal cancer patient controls. Information was collected using a structured-questionnaire. Blood samples were obtained for assay of MTHFR C677T and A1298C genotypes by polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) techniques. Associations between lifestyle factors, family history and genetic polymorphisms v.s. rectal cancer risk were assessed using logistic regression analysis. Results: Subjects with frequent and occasional constipation had a higher risk ($OR_{adj.}$=14.64; 95%CI=4.28-50.04 and $OR_{adj.}$=2.15; 95%CI=1.14-4.06), along with those who reported ever having hemorrhoids ($OR_{adj.}$=2.82; 95%CI=1.36-5.84) or a family history of cancer ($OR_{adj.}$=1.90; 95%CI=1.06-3.39). Consumption of a high level of pork was also associated with risk ($OR_{adj.}$=1.82; 95%CI=1.05-3.15). Interactions were not observed between MTHFR and other risk factors. Conclusions: This study suggested that the risk factors for rectal cancer in the Thai population are bowel habits, having had hemorrhoids, a family history of cancer and pork consumption.

• Journal of Nutrition and Health
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• 제48권6호
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• pp.468-475
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• 2015

우리나라 일부 건강한 유아를 대상으로 Mn-SOD Val16Ala, GSTP1 Ile105Val, GSTT1 present/null, GSTM1 present/null 유전자 다형성 분포를 살펴본 결과, Mn-SOD Val/Val형, GSTP1 Ile/Ile형, GSTT1 null 형, GSTM1 null 형이 주된 (major) 유전자형인 것으로 나타났다. 이 중 Mn-SOD Val/Val형은 Val/Ala 또는 Ala/Ala형에 비해 소변 8-OHdG 수준이 유의적이지는 않으나 높은 경향을 나타내었고, GSTP1 Ile/Ile형은 Ile/Val 또는 Val/Val형에 비해 소변 8-OHdG 수준이 유의적으로 낮았다. 간접흡연에의 노출 여부와 간접흡연-유전자 다형성의 상호 작용이 산화손상지표에는 유의적인 영향을 미치지 않는 것으로 나타났다. 이상의 결과로 볼 때 건강한 유아에서 GSTP1 Val allele 보유한 경우 산화적 손상에 대해 취약할 수 있음을 제시하며, 추후 대규모 연구를 통한 검증 및 이들 유전자형을 보유한 대상자를 위한 효과적인 영양 중재방안에 대한 고려가 필요할 것으로 사료된다.

• Journal of Korean Neurosurgical Society
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• 제57권6호
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• pp.422-427
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• 2015

Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion.

• Asian-Australasian Journal of Animal Sciences
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• 제32권8_spc호
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• pp.1275-1283
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• 2019

Goats (Capra hircus) were domesticated during the late Neolithic, approximately 10,500 years ago, and humans exerted minor selection pressure until fairly recently. Probably the largest genetic change occurring over the millennia happened via natural selection and random genetic drift, the latter causing genes to be fixed in small and isolated populations. Recent human-influenced genetic changes have occurred through biometrics and genomics. For the most part, biometrics has concentrated upon the refining of estimates of heritabilities and genetic correlations. Heritabilities are instrumental in the calculation of estimated breeding values and genetic correlations are necessary in the construction of selection indices that account for changes in multiple traits under selection at one time. Early genomic studies focused upon microsatellite markers, which are short tandem repeats of nucleic acids and which are detected using polymerase chain reaction primers flanking the microsatellite. Microsatellite markers have been very important in parentage verification, which can impact genetic progress. Additionally, microsatellite markers have been a useful tool in assessing genetic diversity between and among breeds, which is important in the conservation of minor breeds. Single nucleotide polymorphisms are a new genomic tool that have refined classical BLUP methodology (biometric) to provide more accurate genomic estimated breeding values, provided a large reference population is available.

• Animal Systematics, Evolution and Diversity
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• 제36권4호
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• pp.347-353
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• 2020

Although sea slaters Ligia have a significant role in rocky shore habitats, their taxonomic entities have not been clearly understood. In this study, we investigated whether genetic variation inferred from a nuclear genetic marker, namely amplified fragment length polymorphism (AFLP), would conform to that of a mitochondrial DNA marker. Using both the mitochondrial DNA marker and the AFLP marker amplified by the six selective primer sets, we analyzed 95 Ligia individuals from eight locations from East Asia. The direct sequencing of mitochondrial 16S rRNA gene revealed three distinct genetic lineages, with 9.8-11.7 Kimura 2-parameter genetic distance. However, the results of AFLP genotyping analysis with 691 loci did not support those of mitochondrial DNA, and revealed an unexpectedly high proportion of shared polymorphisms among lineages. The inconsistency between the two different genetic markers may be explained by difference in DNA evolutionary history, for example inheritance patterns, effective population size, and mutation rate. The other factor is a possible genomic island of speciation, in that most of the genomic parts are shared among lineages, and only a few genomic regions have diverged.