Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients

Qi, Huang; Danis, V A; Lassere, Marissa; Edmonds, John; Manolios, Nicholas

doi:10.1093/rheumatology/38.7.645

Cited by 70 publications

(69 citation statements)

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“…Moreover, considering the entire group of individuals we have analyzed, our data on Fas gene are in agreement with data reported by Huang et al for normal Caucasian population. 23,24 Indeed, the frequencies of the alleles we have analyzed are very similar to those previously reported.…”

Section: Discussionsupporting

confidence: 86%

“…24 The primer sequences used for PCR were MvaIDir (5'-CTACCTAAGAGCTATCTACCGTTC-3') and MvaIRev (5'GGCTGTCCATGTTGTGGCTGC-3'). For each reaction in 25 ml, 100 ng of DNA template were added to the reaction mixture, containing a final concentration of 200 nM of each primer, 200 mM of dNTPs, 1.5 mM MgCl 2 , 50 mM KCl 2 , 10 mM Tris Cl (pH 8.5) and 1 U of Taq polymerase (Promega, Madison, WI, USA).…”

Section: Fas Polymorphism Typing: Analysis Of Mvai Rflpmentioning

confidence: 99%

“…23 The first is located 670 bp upstream from the translational start site of the gene, on the binding site of the transcription factors STAT. 24 This polymorphism is an A to G substitution that creates a restriction site for MvaI and is therefore called MvaI restriction fragment length polymorphism (RFLP). This polymorphism is common in the normal Caucasian population, with a frequency of 0.49 for allele G and 0.51 for the allele A.…”

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies on centenarians

et al. 2002

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Apoptosis plays a crucial role in immunosenescence, as also evidenced by the increased expression of Fas in lymphocytes from aged people. However, little is known about the genetic regulation of Fas and its ligand, FasL. We have studied their polymorphisms in 50 centenarians and 86 young donors living in Northern Italy. The first Fas polymorphism, at position 7670, has in Caucasian a heterozigosity of 51%; the second, at 71377 position, has the wild type allele (G) with a very high frequency (83%) respect to the mutant allele. Genotype and allele distribution for both polymorphisms were similar in controls and centenarians. Similar results were found as far as two FasL polymorphisms (IVS2nt-124 and IVS3nt169) are concerned. On the whole, our data suggest that Fas and FasL polymorphisms, as well as their haplotypes, are unlikely to be associated with successful human longevity.

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Section: Discussionsupporting

confidence: 86%

Section: Fas Polymorphism Typing: Analysis Of Mvai Rflpmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies on centenarians

et al. 2002

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“…In a case-control study in 79 Australian SLE patients and 86 controls, the À670 AA genotype was found to be associated with photosensitivity or oral ulcers. 37 When comparing these three studies with our results, it seems likely that the À670 A4G polymorphism is a genetic contributor to different SLE traits. In our study the À670A allele led to a significantly lower constitutive promoter activity, a difference that was sustained after PMA or IFNg stimulation.…”

Section: Discussionsupporting

confidence: 51%

Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia

et al. 2005

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Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by production of autoantibodies against intracellular antigens and tissue injury. Defective apoptosis of activated immune cells leads to the development of autoantibodies in SLE. FasL initiated apoptosis is central for peripheral tolerance. Fas deficiencies in humans and mice predispose toward systemic autoimmunity. SLE is conferred by many genes. The genetic effects may be concentrated by familial clustering or by stratifying of subphenotypes. We have tested polymorphisms and haplotypes in FAS and FASL for association to SLE or subphenotypes in 126 multiplex American SLE pedigrees and found association of the FAS codon214 AC C/T as well as the FASÀ670G4A 0 -codon214 AC C/T 0 haplotype to thrombocytopenia in SLE. Furthermore we have functionally characterized the FAS/FASL promoter polymorphisms associated with SLE in other populations and demonstrate that the activity depends on the allelic variants as well as on the haplotype. The presence of FASÀ670G, which affects STAT1 binding, leads to the highest activity. FASLÀ844C activity is modified by the cis acting À478A and, hence, the haplotype and not the individual variant, determines the promoter activity. We conclude that the FAS/FASL promoter haplotypes are functional and that polymorphisms in FAS may contribute to thrombocytopenia in SLE.

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“…41 Therefore, this SNP may affect the level of Fas gene transcription and may induce apoptosis, consequently increasing the risk of LA. The Fas A-670G polymorphism has been reported to be associated with several autoimmune diseases and inflammatory disorders, [41][42][43] which may involve a mechanism similar to LA. The frequency of the AA genotype of Fas -670 in 829 HIV-1-infected Thais was 22.1%, which is similar to the percentages in Europeans and Japanese but is markedly higher than that in Africans.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms inFasGene Is Associated with HIV-Related Lipoatrophy in Thai Patients

Likanonsakul

Rattanatham

Feangvad

et al. 2013

AIDS Research and Human Retroviruses

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The present study aimed to evaluate the role of genetic polymorphisms in the emergence of lipoatrophy or lipodystrophy in HIV-infected patients with antiretroviral therapy (ART) in Thailand. Position 455 upstream of the Apolipoprotein C3 gene (ApoC3 T-455C, rs2854116), codon 64 of the Beta3 adrenergic receptor gene (ARb3 Tcod64C, rs4994), and position 670 upstream of the Fas gene (Fas A-670G, rs1800682) were genotyped in 829 HIV-infected Thai patients who had started ART. Crude and adjusted incidence rate ratios (IRR) were calculated using Poisson regression. The serum levels of cholesterol, triglycerides, high-density lipoprotein (HDL), and low-density lipoprotein (LDL) were also analyzed. Multivariate analysis revealed an association between the Fas -670AA genotype, but not the ApoC3 -455 or ARb3 cod64 genotypes, with the incidence of lipoatrophy after adjusting for gender and stavudine (d4T)-containing regimens (IRR = 1.72, 95% CI = 1.20-2.45, p = 0.003). However, ApoC3 -455C homozygous patients showed elevated serum levels of triglycerides, while this genotype did not affect serum total cholesterol, HDL, or LDL levels in patients with lipoatrophy or lipodystrophy. In contrast, the ARb3 cod64 genotype did not show any significant association with the serum levels of cholesterol, triglycerides, HDL, or LDL. In conclusion, Fas -670AA affected the incidence of lipoatrophy in HIV-1-infected Thai patients, while the ApoC3 -455C allele affected the serum levels of triglycerides. These results confirmed the role of genetics in the development of ART-related metabolic disorders.

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Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients

Abstract: The role of the Apo-1/Fas gene promoter MvaI polymorphism in RA and SLE is unclear and further substantiation in larger patient samples is needed.

Cited by 70 publications

References 0 publications

Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies on centenarians

Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies on centenarians

Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia

Polymorphisms inFasGene Is Associated with HIV-Related Lipoatrophy in Thai Patients

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