• The Korean Journal of Physiology and Pharmacology
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• v.7 no.1
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• pp.29-31
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• 2003

It is well known that different expression of Apo-1/Fas (CD95) plays important roles in various tumors and hepatocellular carcinoma (HCC) pathogenesis. Apo-1/Fas mediated apoptosis is one of the important pathways of apoptosis and is known to mediate apoptotic cell death by fas ligand (FasL). To examine the possible relationship between Apo-1/Fas gene polymorphism and HCC susceptibility, MvaI restriction fragment length polymorphism (RFLP) of Apo-1/Fas gene was examined in 94 Korean HCC patients and 240 control subjects. No statistically significant difference in the genotypic distribution and allelic frequencies was found between the control and the HCC. It is, therefore, concluded that Apo-1/Fas gene polymorphism is not associated with HCC susceptibility. Further studies are needed in order to clarify the relationships between genotypes of Apo-1/Fas gene and HCC pathogenesis.

• IMMUNE NETWORK
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• v.3 no.2
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• pp.145-149
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• 2003

Background: Apoptosis has been implicated in pathogenesis of various disease. Apo-1/Fas (CD95) is one of the main pathway of apoptosis. To examine the possible relationship between Apo-1/Fas (CD95) and primary knee osteoarthritis, MvaI restriction length polymorphism (RFLP) in human Apo-1/Fas (CD95) gene was assessed. Methods: Genotype and allele frequencies in promoter region in the Apo-1/Fas (CD95) gene were studied by PCR-RFLP in 226 Korean controls and 148 Korean patients with primary knee osteoarthritis. Results: No statistically significant difference in the genotypic distribution and allelic frequencies was found between the control and the knee oateoarthritis patients. But in the severe grade (grade 3, 4) Kellgren-Lawrence score patients, the frequency of $MvaI^*1$ (G) allele was significantly decreased (P=0.0392) and the of $MvaI^*2$ (A) allele frequency was significantly increased (P=0.0473) compared to the normal controls. Conclusion: Apo-1/Fas (CD95) gene polymorphism is a part a determinant factor of severity in knee osteoarthritis, the patients with $MvaI^*2$ (A) allele is more severe radiologic progression. Further substantiation studies are needed in larger patient samples and various other apoptosis related genes to elucidate the mechanism of osteoarthritis, including the Fas ligand gene analysis.

• Korean Journal of Biological Psychiatry
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• v.10 no.2
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• pp.121-125
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• 2003

Objective:Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. Method:For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. Result:There was a statistical significant difference in genotypic distribution(${\chi}^2$=16.656, df=2, p=0.0002) and allelic frequencies(${\chi}^2$=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. Conclusion:Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.

• The Korean Journal of Physiology and Pharmacology
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• v.6 no.3
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• pp.161-163
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• 2002

Apoptosis has been hypothesized to be involved in the pathogenesis in schizophrenia. A large number of genes are known to mediate the apoptotic process; Apo-1/Fas (CD95) is a well-known example of such genes. In the present study, MvaI restriction fragment length polymorphism, a polymorphic marker present within the Apo-1/Fas gene, was examined in a population consisting of 226 control subjects and 110 schizophrenia patients, all of them Korean in ethnicity. No statistically significant difference in the genotypic distribution and allelic frequencies was observed between the control and the schizophrenia patient group. To find out the precise effect of Apo-1/Fas gene polymorphisms on the susceptibility to schizophrenia, further studies are warranted to investigate possible involvement of other polymorphisms with a larger sample population.

• Journal of Animal Science and Technology
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• v.53 no.6
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• pp.511-516
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• 2011

Fas gene known to associate with intramuscular fat content in Korean cattle was selected for DNA marker development. Fas (APO-1, CD95), a member of the tumor necrosis factor (TNF) receptor superfamily, is a cell membrane protein that mediates apoptosis (programmed cell death). We discovered single nucleotide polymorphisms (SNPs) within Fas gene in order to develop novel DNA markers at genomic level. Of this gene to search for SNP, sequences of whole exon and 1kb range of both front and back of the gene using 24 cattle were determined by direct-sequencing methods. As a result, 16 SNPs in exon, 37 SNPs in intron and 2 SNPs in promoter region, a total of 55 SNPs were discovered. In these SNPs, thirty-one common polymorphic sites were selected considering their allele frequencies, haplotype-tagging status and Linkage Disequilibrium (LD) for genotyping in larger-scale subjects. Selected SNPs were confirmed genotype through SNaPshot method (n=274) and were examined for possible genetic association of Fas polymorphisms with carcass weight (CWT), eye muscle area (EMA), and backfat thickness (BF). So, the SNP have been identified significant g.-12T>G, g.1112T>G and g.32548T>C. These results suggest that polymorphism of Fas gene was associated with meat quality traits in Hanwoo.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.1
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• pp.23-28
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• 2016

The Fas (APO-1, TNFRSF6) gene known as a member of the tumor necrosis factor receptor superfamily was selected for DNA marker development in Korean cattle. It is a cell membrane protein and mediates programmed cell death (apoptosis). We discovered single nucleotide polymorphisms (SNPs) within Fas gene in order to develop novel DNA markers related to economical traits at the genomic level. The sequences of whole exon and 1 kb range of both front and back of the gene were determined by direct-sequencing methods using 24 cattle. A total of 55 SNPs were discovered and we selected 31 common polymorphic sites considering their allele frequencies, haplotype-tagging status and linkage disequilibrium (LD) for genotyping in larger-scale subjects. The SNPs were confirmed genotype through the SNaPshot method (n = 274) and were examined for a possible genetic association between Fas polymorphisms and marbling score. So, the SNPs that were identified significant are g.30256G>C, g.31474C>A, g.31940A>G, and g.32982G>A. These results suggest that SNPs of Fas gene were associated with intramuscular fat content of meat quality traits in Korean cattle.

• Journal of Nutrition and Health
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• v.50 no.3
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• pp.225-235
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• 2017

Purpose: This study aimed to investigate the potential of freeze-dried persimmon powder (Diospyros kaki Thumb.) to protect against dyslipidemia induced by a high-fat/cholesterol diet (HFD) in a rat model. Methods: Fifty Wistar rats were randomly divided into five groups: normal control (NC), high-fat/cholesterol control (HC), tannin in HFD (HT, 1% of diet), immature persimmon in HFD (HI, 7% of diet), and mature persimmon in HFD (HM, 7% of diet). Tannin was used as a positive control. Biochemical, molecular, and histopathological changes were observed in the blood and liver. Results: We confirmed that a high fat/cholesterol diet successfully induced dyslipidemia, which was characterized by significantly altered lipid profiles in the plasma and liver. However, oxidized low-density lipoprotein levels, histopathological damage in the liver, and hepatic triglyceride levels were significantly reduced in all HT, HI, and HM groups compared to those in the HF group. In contrast, plasma apolipoprotein B level was significantly reduced only in the HT and HM groups, whereas reduction of the LDL-C level was detected only in the HI group. Although HF-induced sterol regulatory element-binding protein (SREBP) gene expression was significantly reduced in all treated groups, downstream gene expression levels varied among the different groups; significant reduction of fatty acid synthase (FAS) and 3-hydroxy-3-methylglutaryl-CoA (HMGCR) gene expression was detected only in the HI group, whereas cholesterol $7{\alpha}$-hydroxylase (CYP7A1) gene expression was significantly elevated only in the HM group. Conclusion: Taken together, the data suggest that protection of LDL oxidation and hepatic lipogenesis might be, at least partly, attributed to tannin in persimmons. However, the identified mechanisms varied up to the maturation stage of persimmon. In the case of immature persimmon, modulation of FAS and HMGCR gene expression was prominent, whereas in the case of mature persimmon, modulation of CYP7A1 gene expression was prominent.