Department of Medical Genetics and Child Development, University of Pécs, H-7624 Pécs, Hungary.
Int J Immunogenet. 2009 Dec;36(6):329-35. doi: 10.1111/j.1744-313X.2009.00834.x. Epub 2009 Sep 7.
An association has been repeatedly demonstrated between inflammatory bowel disease (IBD) and the IBD5 locus in the 5q31 chromosomal region. The aim of the present study was to examine the prevalence of the IGR2230a_1 intronic nucleotide polymorphism of the slc22a5 gene (coding for the OCTN2 carnitine transporter protein) lying within this region, and its possible relationship with the carnitine metabolism in Hungarian IBD patients and controls. We genotyped by restriction fragment length polymorphism 200 Crohn's disease (CD) and 246 ulcerative colitis (UC) patients, as well as 187 healthy controls. From plasma samples we determined detailed carnitine ester profiles of 76 CD, 43 UC patients and 45 control persons using electrospray ionization triple quadruple tandem mass spectrometry. The distribution of the genotypes was not significantly different in the CD or the UC group compared with the controls. We found no significant alterations of the carnitine profile in the carrier/non-carrier or the homozygote/non-homozygote comparisons in both the CD and the UC groups, stratified by IGR2230a_1 genotype. Our data suggest that this polymorphism alone is not associated with CD and UC in the Hungarian population, and has no effect on the carnitine metabolism.
炎症性肠病（IBD）与 5q31 染色体区域中的 IBD5 基因座之间的关联已被反复证明。本研究的目的是研究位于该区域内的 slc22a5 基因（编码 OCTN2 肉碱转运蛋白）的 IGR2230a_1 内含子核苷酸多态性的流行情况及其与匈牙利 IBD 患者和对照者肉碱代谢的可能关系。我们通过限制性片段长度多态性对 200 名克罗恩病（CD）和 246 名溃疡性结肠炎（UC）患者以及 187 名健康对照进行了基因分型。从血浆样本中，我们使用电喷雾电离三重四极串联质谱法对 76 名 CD、43 名 UC 患者和 45 名对照者的详细肉碱酯谱进行了测定。与对照组相比，CD 或 UC 组的基因型分布没有显着差异。我们发现，在 CD 和 UC 组中，根据 IGR2230a_1 基因型进行分层，在携带者/非携带者或纯合子/非纯合子比较中，肉碱谱均未发生显着改变。我们的数据表明，该多态性单独与匈牙利人群中的 CD 和 UC 无关，并且对肉碱代谢没有影响。
