Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Joint Bone Spine. 2012 Mar;79(2):124-8. doi: 10.1016/j.jbspin.2011.07.006. Epub 2011 Oct 6.
To investigate whether peptidyl arginine deiminase type IV gene (PADI4) polymorphisms contribute to rheumatoid arthritis (RA) susceptibility in Egyptians, whether they influence disease severity and activity, and whether they affect anti-mutated citrullinated vimentin antibodies (anti-MCV) level.
Three PADI4 single nucleotide polymorphisms (SNPs) (PADI4-92, PADI4-96, and PADI4-102) were screened in 275 RA patients and 275 unaffected controls by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method. Serum anti-MCV levels were measured by enzyme-linked immunosorbent assay (ELISA).
There were significant associations between RA susceptibility with the minor alleles of PADI4-92 and PADI4-102 [odds ratio (OD) and 95% confidence interval (CI) for the minor alleles of PADI4-92 and PADI4-102: 1.48 (1.17-1.88) and 2.05 (1.61-2.61) respectively] but not with PADI4-96 [OD and 95% CI for the C allele: 1.09 (0.86-1.39)]. PADI4 haplotypes 2 (GCC) and 3 (GCT) were also associated with RA susceptibility while PADI4 haplotypes 1 (CTC) may be protective against developing of this disease. A significant association was detected between PADI4 haplotypes and RA severity.
The PADI4 SNPs and haplotypes were associated with RA susceptibility, although no relation was observed between the PADI4 haplotypes and anti-MCV levels.
研究赖氨酰（精氨酰）肽酶Ⅳ型基因（PADI4）多态性是否与埃及人患类风湿关节炎（RA）的易感性有关，是否影响疾病的严重程度和活动，以及是否影响抗突变型瓜氨酸波形蛋白抗体（抗-MCV）水平。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对 275 例 RA 患者和 275 例无影响对照者的 3 个 PADI4 单核苷酸多态性（SNP）（PADI4-92、PADI4-96 和 PADI4-102）进行筛选。采用酶联免疫吸附试验（ELISA）法检测血清抗-MCV 水平。
PADI4-92 和 PADI4-102 等位基因的 RA 易感性存在显著相关性[PADI4-92 和 PADI4-102 等位基因的优势比（OR）和 95%置信区间（CI）：1.48（1.17-1.88）和 2.05（1.61-2.61）]，但 PADI4-96 等位基因不存在相关性[C 等位基因的 OR 和 95%CI：1.09（0.86-1.39）]。PADI4 单倍型 2（GCC）和 3（GCT）也与 RA 易感性相关，而 PADI4 单倍型 1（CTC）可能对该病的发生具有保护作用。PADI4 单倍型与 RA 严重程度存在显著相关性。
PADI4 SNP 和单倍型与 RA 易感性相关，但 PADI4 单倍型与抗-MCV 水平之间无相关性。
