• The Korean Journal of Physiology and Pharmacology
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• 제7권1호
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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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• 제3권2호
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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.

• 생물정신의학
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• 제10권2호
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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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• 제6권3호
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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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• 제53권6호
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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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• 제29권1호
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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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• 제50권3호
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• pp.225-235
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• 2017

본 연구는 성숙도가 다른 떫은감 분말의 이상지질혈증 개선 기능을 확인하기 위하여 Wistar계 흰쥐를 사용하여 시험하였다. 이상지질혈증 유도를 위해 7주간 고지방/고콜레스테롤 식이를 급여하였으며, 미성숙감과 성숙감 건분은 7%, 양성대조군으로 탄닌은 1%의 수준으로 식이에 함께 넣어 같은 기간 동안 제공하였다. 체중의 증가, 혈장과 간 조직의 지질 및 콜레스테롤 수준을 바탕으로 이상지질혈증 모델이 형성되었음을 확인하였다. 탄닌, 성숙감, 미성숙감을 섭취한 경우에는 체중, 혈장 Apo B 및 ox-LDL 수준이 유의적으로 감소하였으며, 특별히 미성숙감은 LDL-C이 감소하는 경향을 나타냈다. 탄닌, 성숙감, 미성숙감의 섭취는 간에서 병리조직학적 손상과 총지질 및 중성지방의 수준을 감소시키는데 유사한 효과를 나타냈다. 그러나 유전자 발현은 서로 다른 양상으로, 탄닌군은 콜레스테롤 합성과 관련된 HMGCR 유전자 발현을 감소시키고, 성숙감은 간에서 담즙산 생성을 통한 콜레스테롤 배출과 관련된 CYP7A1 유전자 발현을 증가시키고, 미성숙감은 지방산 합성과 관련된 FAS 유전자 발현을 억제하는 것으로 나타났다. 이상의 결과로 감은 탄닌 성분을 매개로 콜레스테롤 합성을 억제하고, 성숙도에 따라 미성숙감은 중성지방합성을 억제하고 성숙감은 담즙산 생성을 통한 콜레스테롤 배출을 증가하는 기전으로 콜레스테롤과 중성지질대사 개선을 목적으로 한 기능성 소재로 개발될 가능성이 있는 것으로 판단된다. 향후 변에서 답즙산 분석 등을 통한 기전 확인이 필요할 것이며, 혈중 oxLDL 수준과 같은 항산화 기능과 지질대사 간 상호 영향을 추가적으로 연구해야 할 것으로 사료된다.