Oqal Muna K, Mustafa Khader N, Irshaid Yacoub M
Department of Pharmacology, Faculty of Medicine, The University of Jordan, Amman, Jordan.
Genet Test Mol Biomarkers. 2012 Sep;16(9):1007-10. doi: 10.1089/gtmb.2012.0062. Epub 2012 Jun 25.
To determine the frequency of major N-acetyltransferase (NAT2) alleles and genotypes among Jordanian patients with rheumatoid arthritis (RA).
The study was approved by the IRB of the Jordan University Hospital. An informed consent was signed by every patient. DNA samples from 150 healthy volunteers and 108 patients with RA were analyzed by polymerase chain reaction followed by a restriction fragment length polymorphism assay (PCR-RFLP) to determine the frequency of four major alleles: NAT24, NAT25, NAT26, and NAT27.
The most prevalent genotypes are those that encode the slow acetylation phenotype. About 59.3% of the patients with RA carried the slow, 33.3% the intermediate, and 7.4% the fast-encoding genotypes. The frequency of NAT2 alleles was 0.241 (95% confidence interval [CI] 0.184-0.298) for NAT24, 0.449 (95% CI 0.383-0.515) for NAT25, 0.273 (95% CI 0.214-0.332) for NAT26, and 0.037 (95% CI 0.012-0.062) for NAT27 allele. The overall frequency of the slow acetylation genotype in patients with RA is similar to that in healthy Jordanian volunteers. However, the NAT2*5/7 genotype was found in seven patients (6.5%) with RA and was absent in Jordanian volunteers, and the z test revealed that the difference was statistically significant. This genotype constituted 10.9% of the genotypes encoding slow acetylation.
The overall acetylator genotype in RA is similar to that in healthy volunteers. The overall slow acetylator genotypes do not seem to be a genetic risk factor for RA among Jordanians. However, the NAT2*5/7 genotype seems to be related to RA. The nature of this relationship needs further clarification.
确定约旦类风湿关节炎(RA)患者中主要N - 乙酰转移酶(NAT2)等位基因和基因型的频率。
本研究经约旦大学医院机构审查委员会批准。每位患者均签署了知情同意书。采用聚合酶链反应(PCR)及限制性片段长度多态性分析(PCR - RFLP)对150名健康志愿者和108例RA患者的DNA样本进行分析,以确定四种主要等位基因NAT24、NAT25、NAT26和NAT27的频率。
最常见的基因型是编码慢乙酰化表型的那些。约59.3%的RA患者携带慢乙酰化基因型,33.3%为中间型,7.4%为快乙酰化基因型。NAT2等位基因的频率分别为:NAT24为0.241(95%置信区间[CI] 0.184 - 0.298),NAT25为0.449(95% CI 0.383 - 0.515),NAT26为0.273(95% CI 0.214 - 0.332),NAT27等位基因为0.037(95% CI 0.012 - 0.062)。RA患者中慢乙酰化基因型的总体频率与健康约旦志愿者相似。然而,在7例(6.5%)RA患者中发现了NAT2*5/7基因型,而约旦志愿者中未发现,z检验显示差异具有统计学意义。该基因型占编码慢乙酰化基因型的10.9%。
RA患者的总体乙酰化基因型与健康志愿者相似。总体慢乙酰化基因型似乎不是约旦人患RA的遗传危险因素。然而,NAT2*5/7基因型似乎与RA有关。这种关系的性质需要进一步阐明。