白细胞介素2/白细胞介素21与FcγRIIa的关联研究：在斯堪的纳维亚乳糜泻家族中与白细胞介素2/白细胞介素21区域存在显著关联。

Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families.

作者信息

Adamovic S, Amundsen S S, Lie B A, Gudjónsdóttir A H, Ascher H, Ek J, van Heel D A, Nilsson S, Sollid L M, Torinsson Naluai A

机构信息

Department of Medical and Clinical Genetics, Institute of Biomedicine, Sahlgrenska Academy, Gothenburg University, Göteborg, Sweden.

出版信息

Genes Immun. 2008 Jun;9(4):364-7. doi: 10.1038/gene.2008.27. Epub 2008 Apr 17.

DOI:10.1038/gene.2008.27

PMID:18418394

Abstract

The first genome-wide association study performed in a UK coeliac disease (CD) case-control cohort revealed association with a linkage disequilibrium block containing the KIAA1109/Tenr/IL2/IL21 genes. Also recently, an association with a non-synonymous polymorphism in FcgammaRIIa (CD32a) was reported in CD with an unusually strong P-value. We aimed to replicate the reported associations with the single nucleotide polymorphisms rs13119723 A>G and rs6822844 G>T in the KIAA1109/Tenr/IL2/IL21 region and rs1801274 G>A in the FcgammaRIIa gene in a family sample consisting of 325 Swedish/Norwegian families using the robust transmission disequilibrium test. The family sample used in this study included 100 families with two or more children affected by CD and 225 families with one affected child. We could confirm significant association between the polymorphisms rs13119723 A>G and rs6822844 G>T located in the KIAA1109/Tenr/IL2/IL21 region and CD (P-value 0.001 and 0.002, respectively). However, we found no association with the FcgammaRIIa rs1801274 G>A polymorphism (P-value=0.3). In conclusion, our results support the KIAA1109/Tenr/IL2/IL21 region as a true CD susceptibility region.

摘要

在一个英国乳糜泻（CD）病例对照队列中进行的第一项全基因组关联研究显示，与一个包含KIAA1109/Tenr/IL2/IL21基因的连锁不平衡区域存在关联。最近，在CD中还报道了一种与FcγRIIa（CD32a）非同义多态性的关联，其P值异常显著。我们旨在使用稳健的传递不平衡检验，在一个由325个瑞典/挪威家庭组成的家系样本中，重复报道的KIAA1109/Tenr/IL2/IL21区域单核苷酸多态性rs13119723 A>G和rs6822844 G>T以及FcγRIIa基因rs1801274 G>A的关联。本研究中使用的家系样本包括100个有两个或更多受CD影响子女的家庭和225个有一个受影响子女的家庭。我们能够证实位于KIAA1109/Tenr/IL2/IL21区域的多态性rs13119723 A>G和rs6822844 G>T与CD之间存在显著关联（P值分别为0.001和0.002）。然而，我们发现FcγRIIa rs1801274 G>A多态性无关联（P值 = 0.3）。总之，我们的结果支持KIAA1109/Tenr/IL2/IL21区域是真正的CD易感区域。