Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis

被引：0

作者：

Jae-Jung Kim

Young-Mi Park

Dankyu Yoon

Kyung-Yil Lee

Min Seob Song

Hyoung Doo Lee

Kwi-Joo Kim

In-Sook Park

Hyo-Kyoung Nam

Sin Weon Yun

Myung Ki Han

Young Mi Hong

Gi Young Jang

Jong-Keuk Lee

机构：

[1] Asan Institute for Life Sciences,Department of Pediatrics

[2] University of Ulsan College of Medicine,Department of Pediatrics

[3] Center for Immunology and Pathology,Department of Pediatrics

[4] National Institute of Health,Department of Pediatrics

[5] The Catholic University of Korea,Department of Pediatrics

[6] Daejeon St. Mary’s Hospital,Department of Pediatrics

[7] Inje University Paik Hospital,Department of Pediatrics

[8] Pusan National University Hospital,Department of Pediatrics

[9] University of Ulsan College of Medicine,undefined

[10] Asan Medical Center,undefined

[11] Korea University Hospital,undefined

[12] Chung-Ang University Hospital,undefined

[13] University of Ulsan,undefined

[14] Gangneung Asan Hospital,undefined

[15] Ewha Womans University Hospital,undefined

来源：

Journal of Human Genetics | 2013年 / 58卷

关键词：

coronary artery lesions; genome-wide association study; Kawasaki disease;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Kawasaki disease (KD) is often complicated by coronary artery lesions (CALs), including aneurysms. Because of the complications associated with KD, this disorder is the leading cause of acquired heart disease in children from developed countries. To identify genetic loci that confer a higher risk of developing CALs, we performed a case–control association study using previous genome-wide association study data for samples from KD cases only (n=186) by grouping KD patients without CALs (control: n=123) vs KD patients with extremely large aneurysms (diameter>5 mm) (case: n=17). Twelve loci with one or more sequence variants were found to be significantly associated with CALs (P<1 × 10−5). Of these, an SNP (rs17136627) in the potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2) at 5q22.3 was validated in 32 KD patients with large aneurysms (diameter>5 mm) and 191 KD patients without CALs (odds ratio (OR)=12.6, Pcombined=1.96 × 10−8). This result indicates that the KCNN2 gene can have an important role in the development of coronary artery aneurysms in KD.

引用

页码：521 / 525

页数：4

共 95 条

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