Genetic analysis of the cytochrome P450 CYP2D6 polymorphism in patients with systemic lupus erythematosus

Sabbagh, N; Marez, Delphine; Queyrel, V.; Guidice, J.‐M. Lo; Spire, Catherine; Vanhille, Philippe; Hachulla, É.; Broly, Franck

doi:10.1097/00008571-199806000-00001

Cited by 9 publications

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“…The inactive CYP2D6*4A allele may be a contributory factor for SLE [33]. After genotyping 90 SLE patients and 94 healthy controls, Yen et al [34] concluded that CYP1A1 4887A may be a precipitating factor for SLE, and they detected a synergistic effect for SLE susceptibility between CYP1A1 4887C/A and Mn SOD 1183T/T.…”

Section: Discussionmentioning

confidence: 99%

Single-nucleotide polymorphisms and haplotype of CYP2E1 gene associated with systemic lupus erythematosus in Chinese population

et al. 2011

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IntroductionCytochrome P-450 2E1 (CYP2E1) is an important member of the CYP superfamily, which is involved in the metabolism and activation of many low molecular weight toxic compounds. We tried to investigate the possible association of CYP2E1 tag single nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese Han population.MethodsThe coding and flanking regions of the CYP2E1 gene were scanned for polymorphisms and tag SNPs were selected. A two-stage case-control study was performed to genotype a total of 876 SLE patients and 680 geographically matched healthy controls (265 cases and 288 controls in stage I and 611 cases and 392 controls in stage II). SLE associations of alleles, genotypes and haplotypes were tested by age and sex adjusted logistic regression. The gene transcription quantitation was carried out for peripheral blood mononuclear cell (PBMC) samples from 120 healthy controls.ResultsTag SNP rs2480256 was found significantly associated with SLE in both stages of the study. The "A" allele was associated with slightly higher risk (odds ratio (OR) = 1.165, 95% confidence interval (CI) 1.073 to 1.265, P = 2.75E-4) and "A/A" genotype carriers were with even higher SLE risk (OR = 1.464 95% CI 1.259 to 1.702, P = 7.48E-7). When combined with another tag SNP rs8192772, we identified haplotype "rs8192772-rs2480256/TA" over presented in SLE patients (OR 1.407, 95% CI 1.182 to 1.675, P = 0.0001) and haplotype "TG" over presented in the controls (OR 0.771, 95% CI 0.667 to 0.890, P = 0.0004). The gene transcription quantitation analysis further proved the dominant effect of rs2480256 as the "A/A" genotype showed highest transcription.ConclusionsOur results suggest the involvement of CYP2E1 as a susceptibility gene for SLE in the Chinese population.

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Section: Discussionmentioning

confidence: 99%

Single-nucleotide polymorphisms and haplotype of CYP2E1 gene associated with systemic lupus erythematosus in Chinese population

et al. 2011

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“…May et al evaluated that the relative risk of SSc development was 10-fold higher (P=0.008) in patients with poor metabolism of mephenitoin and dapsone. This complex metabolic impairment may contribute to SSc development, or, on the other hand, the pathological process could be solely responsible for inhibition of selected enzymes metabolizing xenobiotics in some groups of patients [1]. Investigating the distribution of CYP1A1 polymorphisms, von Schmiedeberg et al did not observe significant differences among SSc patients in comparison to a healthy population [2].…”

Section: Discussionmentioning

confidence: 98%

“…First investigations on the association between the oxidative genotype and autoimmune diseases were conducted in the 1990s. Studies have demonstrated that oxidative polymorphism is not associated with the risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) development [1,2,8].…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, numerous studies concerning the association of drug-metabolizing enzyme polymorphism with autoimmune diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), dermatitis herpetiformis (DH), and mixed connective tissue diseases (MCTD) have been carried out [1][2][3][4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphisms of CYP2D6 oxidation in patients with systemic sclerosis

Skrętkowicz

Barańska

Rychlik‐Sych

2009

Eur J Clin Pharmacol

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“…However, the difference was not statistically significant. The CYP2D6*4 allele was observed to occur more often in SLE patients in whom renal or hematological lesions had been observed [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphisms of CYP2D6 oxidation in patients with autoimmune bullous diseases

Rychlik‐Sych¹,

Barańska²,

Waszczykowska³

et al. 2013

pdia

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IntroductionBullous skin diseases, which include, among others pemphigoid, pemphigus, and dermatitis herpetiformis are classified as severe autoimmune dermatoses. It has been shown that a pattern of xenobiotic metabolism may play a role in the pathogenesis of autoimmune diseases.AimTo estimate whether the CYP2D6 genotype may be considered a predisposing factor in autoimmune bullous diseases induction.Material and methodsThe study included 72 patients with autoimmune bullous diseases: 37 with pemphigoid, 21 with pemphigus, and 14 with dermatitis herpetiformis (DH). The CYP2D6 genotypes were analyzed by the polymerase chain reaction fragment length polymorphism (PCR-RFLP) method.ResultsRelative risk of DH development for particular genotype carriers expressed by odds ratio (OR) was statistically significantly higher for subjects with CYP2D6*1/CYP2D6*4 (OR = 4.2; p = 0.0104) and 2-fold higher for subjects with CYP2D6*4 (OR = 2.3; p = 0.0351).ConclusionsThe results of the present study show that the CYP2D6 oxidation polymorphism cannot be considered a risk factor for development of pemphigoid and pemphigus, however it might have an impact on dermatitis herpetiformis.

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Genetic analysis of the cytochrome P450 CYP2D6 polymorphism in patients with systemic lupus erythematosus

Cited by 9 publications

References 0 publications

Single-nucleotide polymorphisms and haplotype of CYP2E1 gene associated with systemic lupus erythematosus in Chinese population

Single-nucleotide polymorphisms and haplotype of CYP2E1 gene associated with systemic lupus erythematosus in Chinese population

Genetic polymorphisms of CYP2D6 oxidation in patients with systemic sclerosis

Genetic polymorphisms of CYP2D6 oxidation in patients with autoimmune bullous diseases

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