Teruel M, Martin J E, Gómez-García M, Cardeña C, Rodrigo L, Nieto A, Alcain G, Cueto I, López-Nevot M A, Martin J
Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla, Granada, Spain.
Tissue Antigens. 2012 Jul;80(1):61-4. doi: 10.1111/j.1399-0039.2012.01861.x. Epub 2012 Mar 19.
The red cell acid phosphatease (ACP1) gene, which encodes a low molecular weight phosphotyrosine phosphatase (LMW-PTP), has been suggested as a common genetic factor of autoimmunity. In the present study, we aimed to investigate the possible influence of ACP1 polymorphisms in the susceptibility of inflammatory bowel disease (IBD). A total of 1271 IBD Spanish patients [720 Crohn's disease (CD) and 551 ulcerative colitis (UC)] and 1877 healthy subjects were included. Four single-nucleotide polymorphisms (SNPs), rs10167992, rs11553742, rs7576247 and rs3828329, were genotyped using TaqMan SNP genotyping assays. Common ACP1 alleles (i.e. ACP1A, ACP1B and ACP1*C) were determined by two of these SNPs. After the analysis, no evidence of association of the ACP1 genetic variants was found with CD or UC. Therefore, our results suggest that the ACP1 gene may not play a relevant role in the development of IBD.
红细胞酸性磷酸酶（ACP1）基因编码一种低分子量磷酸酪氨酸磷酸酶（LMW-PTP），该基因被认为是自身免疫的一个常见遗传因素。在本研究中，我们旨在调查ACP1基因多态性对炎症性肠病（IBD）易感性的可能影响。共纳入了1271名西班牙IBD患者[720例克罗恩病（CD）和551例溃疡性结肠炎（UC）]以及1877名健康受试者。使用TaqMan SNP基因分型检测法对4个单核苷酸多态性（SNP），即rs10167992、rs11553742、rs7576247和rs3828329进行基因分型。其中两个SNP可确定常见的ACP1等位基因（即ACP1A、ACP1B和ACP1*C）。分析后，未发现ACP1基因变异与CD或UC存在关联的证据。因此，我们的结果表明，ACP1基因可能在IBD的发生发展中不发挥相关作用。
