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J Hum Genet ; 58(8): 521-5, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23677057

RESUMEN

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, P(combined)=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.


Asunto(s)
Aneurisma Coronario/complicaciones , Aneurisma Coronario/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/genética , Canales de Potasio de Pequeña Conductancia Activados por el Calcio/genética , Preescolar , Exones/genética , Femenino , Sitios Genéticos/genética , Humanos , Masculino , Polimorfismo de Nucleótido Simple/genética , Secuencias Repetitivas de Ácidos Nucleicos/genética , Reproducibilidad de los Resultados , Factores de Riesgo , Análisis de Secuencia de ADN
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