1.Increased Frequency of Apolipoprotein E4 Genotype in Childhood Minimal Change Nephrotic Syndrome (MCNS).
Sung Do KIM ; Young Min BAE ; Byoung Soo CHO ; Yoe Won CHO ; Il Soo KIM
Journal of the Korean Society of Pediatric Nephrology 2001;5(2):87-99
PURPOSE: We studied to find out apo-E genotype polymorphism in minimal change nephrotic syndrome(MCNS) and IgA nephropathy(IgAN) and to determine the relationship between apo-E genotype and clinical course of MCNS. MATERIALS AND METHOD: 43 MCNS patients and 15 IgAN patients were examined for apo-E polymorphism. 50 healthy blood donors were examined for apo-E genotype as control. Genomic DNA was prepared from peripheral blood leukocytes according to standard procedures. RESULTS: As compared with control group, e4 allele frequency was significantly increased in MCNS (P<0.01). However, in IgAN e2 allele frequency, however, was 2.6 times higher than normal control (P<0.01). The frequency of e4 allele of frequent relapser group was 4.6 times higher than normal control and was 2 times higher than infrequent relapser group. CONCLUSION: We think that apo-E typing might be one of the parameters, which should be considered to predict the course of MCNS in children. MCNS with risky HLA profile and E4/4 genotype could indicate the need for a longer steroid dministration. And apo-E genotype needs to be considered for the evaluation of therapeutic responses to other drugs.
Alleles
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Apolipoprotein E4*
;
Apolipoproteins E
;
Apolipoproteins*
;
Blood Donors
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Child
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DNA
;
Gene Frequency
;
Genotype*
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Humans
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Immunoglobulin A
;
Leukocytes
;
Nephrosis, Lipoid*
2.Genetic and Clinical Characteristics of Multiplex Schizophrenia Families.
Sang Wook KIM ; Hyung Yong YOE ; Yu Sang LEE ; Kyeong Sook CHOI ; Won Seok JANG ; Eun Young CHO ; Dong Yeon PARK ; Hye Kyong BAEK ; Yong Lee JANG ; Cheon Seok SOE ; Hyo Joung KIM ; Chang Hyun KIM ; Wou Sang HAN ; Kyung Sue HONG
Journal of Korean Neuropsychiatric Association 2003;42(6):674-682
OBJECTIVES: This study aims at exploring genetic and clinical characteristics of multiplex Korean families with schizophrenia. METHODS: Thirty-three families having two or more schizophrenics by DSM-IV criteria within the second degree relatives were obtained from the clinics of general hospitals and mental hospitals. Sixty-nine affected and forty-five unaffected subjects from these families were interviewed using Korean version of Diagnostic Interview for Genetic Studies. Krawieka Rating Scale and The Schedule for the Deficit Syndrome were also applied for further evaluation of psychopathologies of the patients. Patterns of inheritances of the disease were analyzed by the inspection of the pedigrees. Parent-of-origin effect was evaluated by the comparison of the occurrence rate and the clinical characteristics between the subgroups of maternal and paternal origins. RESULTS: There were similar rates of maternal and paternal transmission in the families for which unilineal transmission of the disease was estimated. Only one family showed bilineal transmission. Observed patterns of transmission were not compatible with the recessive single locus model or sex-linked model. The most frequently observed non-schizophrenic disorders in these families were personality disorders/traits of schizophrenia spectrum. We could not find any clinical characteristics which might be unique to the patients from multiplex families. Parent-of-origin effect was not suggested. CONCLUSION: This study provides preliminary clinical and genetic data on the multiplex schizophrenia families which could be used for the determination of the genetic parameters and the boundaries of the phenotype in the linkage analyses.
Appointments and Schedules
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Bile Pigments
;
Diagnostic and Statistical Manual of Mental Disorders
;
Hospitals, General
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Hospitals, Psychiatric
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Humans
;
Phenotype
;
Schizophrenia*
;
Wills