The Section of Colon and Rectal Surgery, Department of Surgery and the Price Institute of Surgical Research at the University of Louisville School of Medicine, Louisville, KY 40292,
J Natl Med Assoc. 2012 Sep-Oct;104(9-10):420-7. doi: 10.1016/s0027-9684(15)30195-4.
To compare three aspects of Crohn's disease (CD) between African Americans and Caucasians: (1) demographic data and environmental factors affecting CD susceptibility, (2) disease presentation and clinical course, and (3) genetic susceptibility via the use of single nucleotide polymorphism (SNP) data for inflammatory bowel disease (IBD) susceptibility loci.
Clinical data and peripheral blood were obtained from 1032 patients (554 CD patients and 478 controls) derived from a clinically well-defined university-based medical and surgical digestive disease practice and included those who were diagnosed with IBD. Genomic DNA was extracted and polymerase chain reaction (PCR) amplification and genotyping were performed for 11 SNPs, including the NOD2, IL-23r, OCTN 1, and the IGR gene variants.
A total of 554 patients with CD were included in this study: 53 African Americans (10%), 485 Caucasians (87%), and 15 of other races (3%). The strongest demographic predictor of CD in African American patients was a family history of IBD. Ileocolic disease (L3) was the most common site involved in both African Americans and Caucasians, while the penetrating phenotype (B3) was the most common CD disease behavior in both races. Genotype association analysis showed a significant association between 2 IL23r gene SNPs and CD susceptibility in African Americans (p = .016 and .028, respectively).
We believe this study is the first to report on genotype-phenotype associations in African American CD patients and compare findings to Caucasian CD patients within the same geographic area. We found no association between NOD2 gene SNPs and CD susceptibility in African Americans patients (p > .05).
比较非裔美国人和白种人克罗恩病(CD)的三个方面:(1)影响 CD 易感性的人口统计学数据和环境因素,(2)疾病表现和临床过程,以及(3)通过使用炎症性肠病(IBD)易感性基因座的单核苷酸多态性(SNP)数据来确定遗传易感性。
从一个临床定义明确的大学医疗和外科消化系统疾病实践中获得了 1032 名患者(554 名 CD 患者和 478 名对照)的临床数据和外周血,包括那些被诊断为 IBD 的患者。提取基因组 DNA,进行聚合酶链反应(PCR)扩增和基因分型,包括 NOD2、IL-23r、OCTN1 和 IGR 基因变异的 11 个 SNP。
本研究共纳入 554 例 CD 患者:53 例非裔美国人(10%)、485 例白种人(87%)和 15 例其他种族(3%)。非裔美国患者 CD 的最强人口统计学预测因子是 IBD 的家族史。回肠结肠炎(L3)是非裔美国人和白种人最常见的受累部位,而穿透性表型(B3)是非裔美国人和白种人最常见的 CD 疾病行为。基因型关联分析显示,2 个 IL23r 基因 SNP 与非裔美国人 CD 易感性显著相关(分别为 p=0.016 和 p=0.028)。
我们认为这是第一项报告非洲裔美国 CD 患者基因型-表型关联的研究,并在同一地理区域内将研究结果与白种人 CD 患者进行比较。我们未发现非洲裔美国患者 NOD2 基因 SNP 与 CD 易感性之间存在关联(p>0.05)。