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Scientific Abstracts
Author(s) -
Davila, S,
Yang, W,
Hibberd, ML,
Wang, JJ,
Kuijpers, TW,
Cheung, YF,
Burgner, D,
Burns, JC,
Levin, M,
Wu, JY,
Lee, JK,
Park, IS,
Huang, GY,
Dahdah, N,
Cimaz, R,
Mitchell, P,
Pang, M,
Wong, TY,
Sim, KS,
Tan, DEK,
Yeung, RS,
Wright, VJ,
Shimizu, C,
Lee, YC,
Breunis, WB,
Khor, CC
Publication year - 2012
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2012.03534.x
Subject(s) - medicine , citation , library science , computer science
Conference theme: From Genetics to ClinicsSesssion: GeneticsWe performed a case-control GWAS on KD, initially analyzing
494,236 genetic markers in a total of 405 KD cases of European
descent matched to 6,252 controls. The independent replication
sample set included an additional 1,768 KD cases of European-
Caucasian and Asian descent and 3,131 family and population
controls in aggregate. The total sample size of 2,173 KD cases
and 9,383 controls was assembled by team members from different
nations and research networks.
Single-SNP analysis for association with KD susceptibility was
performed using logistic regression fi tted for genotype trend effects (1 degree of freedom), with adjustment for the top four principal
components of population ancestry. We attempted replication of the
62 most signifi cantly associated SNPs in a family-based sample
collection of 760 complete parent-offspring trios and 139 discordant
sibling pairs using the Sequenom Mass-Array genotyping platform.
A total of 5 SNPs showed a consistent direction of effect with the
GWAS (1.96 × 10−3 < P < 0.068) in the family-based analysis.
Combined analysis of both the GWAS and family-based tests for
these 5 SNPs resulted in four exceeding P < 1.0 × 10−5 and representing
four distinct genetic loci. We then followed up these SNPs
in three Asian collections comprising 438 KD cases vs. 446
controls from Taiwan, 460 KD cases vs. 498 controls from Korea,
and 130 KD cases vs. 568 controls from Hong Kong and Shanghai.
The specifi c loci and possible functional implications for understanding
the immune activation of KD pathogenesis will be
discussed.link_to_OA_fulltex