CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population

被引:44
作者
Baptista, Marcia Luiza [3 ]
Amarante, Heda [4 ]
Picheth, Geraldo [5 ]
Sdepanian, Vera Lucia [7 ]
Peterson, Nicholas [1 ,2 ]
Babasukumar, Umesh [1 ,2 ]
Lima, Hermenio C. [6 ]
Kugathasan, Subra [1 ,2 ]
机构
[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
[2] Childrens Res Inst, Milwaukee, WI 53226 USA
[3] Univ Fed Parana, Dept Internal Med, BR-80060000 Curitiba, Parana, Brazil
[4] Univ Fed Parana, Dept Gastroenterol, BR-80060000 Curitiba, Parana, Brazil
[5] Univ Fed Parana, Dept Biochem, BR-80060000 Curitiba, Parana, Brazil
[6] Univ Fed Parana, Dept Med Pathol, BR-80060000 Curitiba, Parana, Brazil
[7] Univ Fed Parana, Dept Pediat Gastroenterol, BR-80060000 Curitiba, Parana, Brazil
关键词
CARD15; IL23R; ATG16L1; single nucleotide polymorphism (SNP); genotype-phenotype;
D O I
10.1002/ibd.20372
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background: 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. Methods: 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. Results: 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. Conclusions: 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.
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收藏
页码:674 / 679
页数:6
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