• Sleep Medicine and Psychophysiology
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• v.23 no.1
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• pp.25-28
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• 2016

Objectives: The retinoid-related orphan receptor A (RORA) gene has been reported to have an impact on circadian rhythm regulation. In this study, we analyzed the relationship between the RORA gene polymorphism and diurnal preference in Korean young adults. Methods: A population of 504 young adults was included in the study. All subjects were given and completed a 13-item composite scale for morningness (CSM). The RORA gene rs11071547 single-nucleotide polymorphism (SNP) was genotyped by PCR-based methods. Results: CSM score was not associated with genotype or allele carrier status of the RORA rs11071547 SNP. Conclusion: This result indicates that the RORA rs11071547 SNP does not play a role in diurnal preference.

• Journal of Periodontal and Implant Science
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• v.33 no.4
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• pp.747-753
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• 2003

면역글로불린의 Fc 부분에 대한 수용기인 $Fc{\gamma}R$는 세균에 대한 인식, 결합과 포식작용과정에서 중요한 역할을 한다. 이 $Fc{\gamma}R$에서 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자 다형성이 치의학 분야에서 연구되고 있다. $Fc{\gamma}R$IIa에서는 두 번째 세포외 면역글로불린 유사 영역의 131번째 아미노산에서 아르기닌($Fc{\gamma}R$IIa-R131) 혹은 히스티딘($Fc{\gamma}R$IIa-H131)을 갖고 있으며, $Fc{\gamma}R$IIIa에서는 두번째 세포외 영역의 158번째 아미노산이 발린($Fc{\gamma}R$IIIa-158V) 혹은 페닐알라닌($Fc{\gamma}R$IIIa-158F)을 갖고 있다. $Fc{\gamma}R$IIIb에서는 첫 번째 세포외 면역글로불린 유사영역의 4개의 아미노산의 유전자 다형성으로 인해서 $Fc{\gamma}R$IIIb-NA1과 $Fc{\gamma}R$IIIb-NA2의 두가지 유전자 다형성을 보이고 있다. 이번 연구는 치주적으로 건강한 한국인에서 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb에 대한 유전자형의 분포를 조사하고자 한 것으로 서울대학교 치과병원에 근무하는 치과의사, 치과위생사, 간호조무사 및 서울대학교 치과대학 4학년 학생 중 치주낭 깊이와 부착소실이 4mm 이하인 치주적으로 건강한 한국인 65명을 대상으로 하였다. $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자 다형성은 분리한 DNA에 각 대립유전자에 특이성을 지닌 primer를 넣고 PCR(polymerase Chain Reaction)법을 이용하여 증폭시킨후 전기영동법을 이용하여 각 대립유전자의 존재를 확인함으로써 결정하였다. $Fc{\gamma}R$IIa의 유전자 다형성은 R/R131, R/H131, H/H131의 유전자형에 대하여 각각 7.7%, 38.5%, 53.8%의 분포를 보였으며, $Fc{\gamma}R$IIIa의 158V/V, 158V/F, 158F/F 유전자형에 대하여 각각 7.7%, 35.4%, 56.9%의 분포를 보였다. 또한 $Fc{\gamma}R$IIIb의 NA1/NA1, NA1/NA2, NA2/NA2 유전자형은 각각 33.9%, 53.8%, 12.3%의 분포를 보였다. 이를 바탕으로 각 대립유전자의 발생빈도 계산한 결과 $Fc{\gamma}R$IIa의 R131과 H131이 26.9% 73.1%로 나타났으며, $Fc{\gamma}R$IIIa의 158V, 158F의 유전자형이 25.4%, 74.6%로 나타났다. $Fc{\gamma}R$IIIb의 NA1, NA2 유전자형의 발생빈도는 60.8%, 29.2%로 나타났다. 이번 연구는 치주적으로 건강한 한국인에서의 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb에 대한 유전자형의 분포를 조사한 것으로, 이후 치주질환자의 유전자형 분포와의 비교로 치주질환과 $Fc{\gamma}R$IIa, $Fc{\gamma}R$IIIa, $Fc{\gamma}R$IIIb의 유전자다형성과의 관련성에 관한 추가적인 연구가 필요할 것으로 여겨진다.

• Journal of Acupuncture Research
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• v.23 no.1
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• pp.39-51
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• 2006

목적 : 본 연구는 뇌경색에서 일반적으로 많이 사용하는 한방치료가 뇌경색 환자의 단일유전자 염기 다형성에 미치는 영향에 대하여 분석하였다. 2003년 3월부터 2003년 12월까지 경희대학교 한의과대학 부속한방병원 침구과에 입원한 뇌경색 환자 146명과 경희의료원 종합검진센터에 건강검진을 위해 내원한 건강인 192명을 대상으로 하였다. 방법 : 한국인 뇌경색 환자와 건강인에서 혈액을 채취하여 개인마다 DNA를 분리 정제하고 Taq polymerase로 증폭한 후 Pyrosequencing을 통하여 IL4R(interleukin 4 receptor)의 유전형을 관찰하였다. 결과 : 본 연구 결과 IL4R 유전자의 경우 한국인 뇌경색 환자군과 대조군 사이에 유의성 있는 차이가 나타나지 않았다. 결론 : 이상의 결과를 통하여 IL4R 유전자 다형성은 한국인에서 뇌경색의 발병에 관련이 적은 것으로 사려되며 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와의 연관성에 대한 심도 깊은 연구가 필요할 것으로 사려된다.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.87-92
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• 2009

Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

• Korean Journal of Biological Psychiatry
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• v.7 no.2
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• pp.152-158
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• 2000

Background : No association between schizophrenia and dopamine D4 receptor polymorphisms have been reported. Despite these results, it is premature to exclude the association. It has been suggested that the susceptibility to develop schizophrenia could result from variation at a number loci which may interact or coact with each other. Therefore, we investigated a possible association of combinations of exon III 48bp polymorphism[D4E3] and exon I 12bp polymorphism of the DRD4 gene [D4E1] with schizophrenia. Methods : 207 unrelated Korean schizophrenic patients and 191 healthy controls were recruited. DRD4 genotype was established using the polymerase chain reaction. Statistical analysis consisted of ${\chi}^2$ tests for Hardy-Weinberg proportions and genotypic and allelic frequencies in the patients and control groups. Results : There were no statistically significant differences in the each polymorphisms between schizophrenics and controls. And all genotype frequencies were within Hardy-Weinberg expectations. When the combinations of the polymorphism in schizophrenia and controls were compared, however, there were significant differences at $A1A2^*2/4$ in the distributions of the combinations of D4E1 and D4E3(p<0.01). Conclusions : These findings suggest that the certain combination of D4E1 and D4E3($A1A2^*2/4$) has the protective role to a susceptibility for schizophrenia.

• Sleep Medicine and Psychophysiology
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• v.14 no.1
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• pp.26-32
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• 2007

Objectives: Angiotensin-converting enzyme (ACE) gene polymorphism has been reported to be associated with depression and therapeutic outcome in depression. The purpose of this study was to determine whether ACE gene polymorphism is associated with seasonal variation in mood and behavior in a young Korean college student sample. Methods: 297 young Korean medical students were recruited in this study. All subjects were free of major medical and psychiatric problems. They were genotyped for the ACE gene polymorphism and evaluated the seasonal variation in mood and behavior by the Seasonality Pattern Assessment Questionnaire (SPAQ). Results: Global Seasonality Score (GSS) of SPAQ between three genotypes were not different. However, comparison of the group that showed seasonality of mood and behavior during winter with the group that did not showed seasonality indicated significant difference in genotype distribution ($x^2=6.79$, p=0.034). The D allele non-carrier (ll genotype) frequency was significantly higher in winter seasonality group than non-seasonality group ($x^2=6.59$, p=0.010；odds ratio [OR]=2.27, 95% confidence interval [CI] 1.20-4.28). Conclusion: These results suggest that the ACE gene polymorphism is related to winter-type seasonality in a Korean population.

• Clinical and Experimental Reproductive Medicine
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• v.33 no.2
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• pp.97-104
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• 2006

Objective: To investigate whether polymorphism of Catechol-O-methyltransferase(COMT) gene is associated with the risk of polycystic ovary syndrome (PCOS) in Korean women. Methods: One hundred and thirty-six PCOS patients and eighty four controls were enrolled. Blood samples were collected from the patients diagnosed according to the 2003 revised criteria of the Rotterdam ESHRE/ASRM-sponsored PCOS consensus workshop group. Age matched women with regular menstruation from same geographic region were recruited as control subject. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine all individuals' genotype. Results: In women with $COMT^{LL}$ genotype, there was decreased PCOS risk and this difference was statistically significant (OR 0.24, 95% CI 0.11~0.51). Conclusion: The results suggest that the $COMT^{LL}$ genetic polymorphism might be associated with PCOS risk in Korean women.

• Proceedings of the Korean Nutrition Society Conference
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• 2003.10a
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• pp.19-25
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• 2003

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.128-132
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• 2007

Purpose : Endometriosis is a steroid dependent disease with a particular genetic background but the location of possible genomic aberrations are still poorly clarified. This study was designed to investigate the associations between the polymorphism of the progesterone receptor gene (PROGINS) and endometriosis. Methods : 100 women with surgically diagnosed and histologically confirmed endometriosis were enrolled as a patient population and a total of 110 female control subjects undergoing health examination were enrolled as control population. DNA extraction and polymerase chain reaction (PCR) were used to genotype women for the presence of the PROGINS polymorphism in peripheral blood samples. The x2-test was used to compare genotype distributions between endometriosis and controls. Results : T1/T2 heterozygote was found to be one patient in each group, and the rest of the subjects were all T1/T1 homozygotes. There was no difference in the genotype distribution between the endometriosis group and the control group. Conclusion : These results suggest that the progesterone receptor gene PROGINS is not associated with the risk for endometriosis.

• Journal of Life Science
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• v.18 no.4
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• pp.427-434
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• 2008

Osteonecrosis of the femoral head (ONFH) is a multifactorial disease and certain individuals are more at risk or may be predisposed to it. An altered lipid metabolism is one of the major risk factors for osteonecrosis, especially corticosteroid therapy and alcoholism. 3-hydroxy-3-methylglutaryl coenzyme A. (HMG-CoA) reductase inhibitors, stalin used as lipid-clearing agent, have been known to decrease the risk of osteonecrosis in patients receiving steroids and affect coagulation and fibrinolysis. Therefore we evaluated the association of HMG-CoA reductase gene polymorphisms and haplotypes between osteonecrosis patients and normal controls. We directly sequenced the HMG-CoA reductase gene in 24 Korean individuals, and identified five sequence variants. Four SNPs (-6933C>T, -6045T>G, +12673G>A, and +18128C>T) were selected and genotyped in 349 male ONFH patients and 300 male control subjects. The genotypes, allele frequencies, and haplotypes of the polymorphisms in the total patients as well as in the subgroup by etiology were not significantly different from those in the control group. In addition, no significant differences between each genotype of the polymorphisms and plasma lipid level could be found in the control group. These results suggest that the polymorphisms and haplotypes of HMG-CoA reductase gene are unlikely to be associated with a susceptibility to ONFH.