Baptista Márcia Luiza, Amarante Heda, Picheth Geraldo, Sdepanian Vera Lucia, Peterson Nicholas, Babasukumar Umesh, Lima Hermênio C, Kugathasan Subra
Department of Internal Medicine, Federal University of Paraná, Curitiba, PR.
Inflamm Bowel Dis. 2008 May;14(5):674-9. doi: 10.1002/ibd.20372.
Although many genetic variants are identified in association with Crohn's disease (CD), CARD15, IL23R, and ATG16L1 association with CD have been firmly confirmed in Caucasians of European ancestry. The prevalence of CD is rapidly rising in Brazil, where European ancestry is firmly admixed with natives and Africans, resulting in a heterogeneous population. We investigated the contribution of CARD15, IL23R, and ATG16L1 with CD risk in a heterogeneous Brazilian population.
Genotyping for CARD15 (R702W, G908R, 3020insC), IL23R (rs1004819, rs7517847, rs11209026, rs10889677, rs1495965), and ATG16L1 (rs2241880) was performed in 187 children and adults with CD and 255 healthy ethnically matched controls. Clinical records were systematically reviewed and detailed phenotypic information was obtained.
At least 1 CARD15 risk allele was present in 30% of the CD patients compared with 10% of controls. Variants of CARD15 (3020insC and R702W) and IL23R (rs1004819, rs11209026, and rs1088967) were associated with CD. However, no genotype-phenotype correlations were found among the Brazilian CD population with CARD15 or IL23R variants. No significant association was achieved with ATG16L1.
CARD15 and IL23R confer susceptibility to CD in the Brazilian population. However, the presence of these variants did not influence disease phenotype. Further research should be focused on larger sample sizes with population admixture analysis to better understand the risks and genotype-phenotype correlation in populations like Brazil where the prevalence of CD is rapidly rising.
尽管已鉴定出许多与克罗恩病（CD）相关的基因变异，但CARD15、IL23R和ATG16L1与CD的关联在欧洲血统的白种人中已得到确凿证实。在巴西，CD的患病率正在迅速上升，该国欧洲血统与当地人和非洲人大量混合，形成了一个异质人群。我们调查了CARD15、IL23R和ATG16L1对巴西异质人群中CD风险的影响。
对187例患有CD的儿童和成人以及255例种族匹配的健康对照进行CARD15（R702W、G908R、3020insC）、IL23R（rs1004819、rs7517847、rs11209026、rs10889677、rs1495965）和ATG16L1（rs2241880）的基因分型。系统回顾临床记录并获取详细的表型信息。
30%的CD患者至少存在1个CARD15风险等位基因，而对照组为10%。CARD15（3020insC和R702W）和IL23R（rs1004819、rs11209026和rs1088967）的变异与CD相关。然而，在巴西CD人群中，未发现CARD15或IL23R变异与基因型 - 表型之间的相关性。ATG16L1未发现显著关联。
CARD15和IL23R使巴西人群易患CD。然而，这些变异的存在并未影响疾病表型。进一步的研究应集中在更大样本量并进行人群混合分析，以更好地了解像巴西这样CD患病率迅速上升的人群中的风险及基因型 - 表型相关性。
