• Korean Journal of Biological Psychiatry
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• v.1 no.1
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• pp.79-87
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• 1994

For the purpose of evaluating the human leukocyte antigen(HLA) disease-association with bipolar disorder, HLA class I and class II allelic frequencies were assessed in 37 bipolar patients and were compared to the data from normal population. HLA class 1 typing was performed with microlymphocytotoxicity method while class II(DRB1) genotyping with reverse dot blot hybridization and sandwich method. Statistical analysis consisted of relative risk, Haldane's modified relative risk, Fisher's exact test and Bonferoni's corrected P. The results were as follows : 1) Bipolar patients showed increased allelic frequency of HLA A3 which has statistical significance. 2) Allelic frequencies of HLA B7, B14 and B54 were higher, while those of B51 and B55 were lower in bipolar patients, but they were not statistically significant. 3) Both of increased frequencies of DR2 in bipolar patients and DR15 in normal controls had statistical significance. The results of the present study suggested that some of HLA allelic types might be associated with bipolar disorder. To clarify the genetic influence of HLA to bipolar disorder, we should do consecutive study of bipolar disorder with new information about HLA system including alleles.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.14-21
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• 2024

Infantile nystagmus syndrome (INS) refers to congenital forms of nystagmus that are present at birth or during infancy. This syndrome may be caused by afferent visual system disorders or abnormal development of the ocular motor system. INS is a genetically heterogeneous disorder for which there are more than 100 causative genes. Since applying clinical tests for the differential diagnosis of INS can be challenging in early infancy and children, genetic testings such as next-generation sequencing are becoming more important for achieving accurate diagnoses. An improved understanding of the molecular mechanisms of INS may also lead to the development of gene-based therapies for INS. These advantages of genetic testing have the potential to change the diagnostic paradigm of patients with INS. However, the diagnostic pathway based on genetic testing still has several limitations in terms of the therapeutic effect and methodology. This review summarizes genetic and clinical features of INS, and discusses the promise and pitfalls of genetic testing in INS.

• Korean Journal of Biological Psychiatry
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• v.15 no.1
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• pp.14-22
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• 2008

Objectives : The authors purposed to present data for explaining gene-environmental interaction causing depressive disorder by examining the effects of genetic factors related to the serotonin system and environmental factors such as stressful life events in early adulthood. Methods : The subjects were 150 young adults(mean age 25.0${\pm}$0.54), a part of 534 freshmen who had completed the previous study of genotyping of TPH1 gene. We assessed characteristics of life events, depression and anxiety scale and checked if they had a depressive disorder with DSM-IV SCID interview. Along with TPH1 A218C genotype confirmed in previous study, TPH2 -1463G/A and 5HTR2A -1438A/G genes were genotyped using the SNaPshot$^{TM}$ method. Results : In comparison with the group without C allele of TPH1 gene, the number of life events had a significant effect on the probability of depressive disorder in the group with C allele. Other alleles or genotypes did not have a significant effect on the causality of life events and depressive disorder. Conclusion : The results of this study suggest that TPH1 C allele is a significant predictor of onset of depressive disorder following environmental stress. It means that the TPH1 gene may affect the gene-environmental interaction of depressive disorder.

• Environmental Analysis Health and Toxicology
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• v.25 no.4
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• pp.259-262
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• 2010

In this review, we give an overview of psychiatric perspectives on environmental disease. The concept of genetic heritability and its meaning with regard to environmental risk factors will be discussed. Recent ideas of gene-environment interaction and neurodevelopmental disorder in psychiatry will also be introduced. This article discusses the environmental risk factors for attention deficit hyperactivity disorder (ADHD) and autism, the two major environmental diseases and neurodevelopmental disorders in psychiatry. Given that both ADHD and autism are complex conditions, the etiology is likely to involve multiple genes of moderate effect interacting with environmental factors. We will introduce recent environmental issues related to these two disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.27 no.4
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• pp.267-277
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• 2016

Attention-deficit hyperactivity disorder (ADHD) is a common, childhood-onset, neuropsychiatric disorder with an estimated prevalence of 2-7.6% in Korean children. Although the etiology of ADHD is not well understood, evidence from genetic factor and environmental factor studies suggests that ADHD results from a gene environmental interaction. In the current study, we reviewed the evidence for and clinical implications of the hypothetical roles of organophosphate pesticides, organochlorine pesticides, polychlorinated biphenyls, phthalate, bisphenol, polyfluoroalkyl chemicals, polycyclic aromatic hydrocarbons, mercury, lead, arsenic, cadmium, manganese, tobacco, alcohol as harmful risk factors in the development of ADHD.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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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.

• Genomics & Informatics
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• v.10 no.4
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• pp.239-243
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• 2012

Gestational diabetes mellitus (GDM) is a complex metabolic disorder of pregnancy that is suspected to have a strong genetic predisposition. It is associated with poor perinatal outcome, and both GDM women and their offspring are at increased risk of future development of type 2 diabetes mellitus (T2DM). During the past several years, there has been progress in finding the genetic risk factors of GDM in relation to T2DM. Some of the genetic variants that were proven to be significantly associated with T2DM are also genetic risk factors of GDM. Recently, a genome-wide association study of GDM was performed and reported that genetic variants in CDKAL1 and MTNR1B were associated with GDM at a genome-wide significance level. Current investigations using next-generation sequencing will improve our insight into the pathophysiology of GDM. It would be important to know whether genetic information revealed from these studies could improve our prediction of GDM and the future development of T2DM. We hope further research on the genetics of GDM would ultimately lead us to personalized genomic medicine and improved patient care.

• Biomolecules & Therapeutics
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• v.24 no.3
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• pp.207-243
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• 2016

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.6 no.1
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• pp.34-42
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• 1995

Borderline personality disorder in adolescents present with suicide attempts or gestures, and they are characterized by the same patterns of splitting, devaluation, manipulation, need-gratifying object relations, impulsivity, and ego deficits that are finds in borderline adults, Symptomatolgy are depression, anxiety, identity crisis, and occasionally antisocial behavior in borderline personality disorder in adolescents. These findings should be differentiated to normal stormy adolescents. Theses borderline personality disorder in adolescents are known about the instability of object relations, labile affect, splitting, and psychotic episode in severe stress. According to thses finding, schizophrenia, mood disorder, schizoptypal personality disorder, paranoid personality disorder could be differentiated. Etiology is complex including psychodynamic, genetic, familial factor. Treatments are individual psychotherapy, group therapy, and pharmacotherapy. The continuity or discontinuity of borderline states from childhoon to adult life is controversy.