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8p22-23-rs2254546 作为川崎病的易感基因座：病例对照研究和荟萃分析。

8p22-23-rs2254546 as a susceptibility locus for Kawasaki disease: a case-control study and a meta-analysis.

机构信息

1] Children's Hospital, Zhejiang University School of Medicine, Hangzhou, PR China [2].

1] Department of Epidemiology and Biostatistics and Key Laboratory of Environment and Health, Ministry of Education & Ministry of Environmental Protection, and State Key Laboratory of Environmental Health (Incubating), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China [2].

出版信息

Sci Rep. 2014 Feb 28;4:4247. doi: 10.1038/srep04247.

DOI:10.1038/srep04247
PMID:24577620
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3937782/
Abstract

8p22-23-rs2254546 was firstly discovered to be associated with Kawasaki disease (KD) susceptibility by a genome-wide association study. However, only one Chinese replication study has been performed so far. To verify this association in another Chinese population, a hospital-based case-control study in Zhejiang province was conducted followed by an integrated meta-analysis, comprising five case-control studies of 1958 cases, 5615 controls and four transmission disequilibrium tests of 503 trios. In our case-control study, significant associations were observed between GG genotype or GG/GA genotypes of rs2254546 and increased KD risk (OR = 1.86, 95% CI = 1.01-3.41, P = 0.045; OR = 1.83, 95% CI = 1.01-3.33, P = 0.048), compared with AA genotype; however, no significant association was found in allelic model (OR = 1.20, 95% CI = 0.96-1.50, P = 0.117). The meta-analysis further revealed that the G allele was significantly associated with the increased KD risk without evidence of heterogeneity (OR = 1.55, 95% CI = 1.42-1.70, P < 0.001). In conclusion, rs2254546 polymorphism might significantly contribute to the risk of KD.

摘要

8p22-23-rs2254546 最初是通过全基因组关联研究发现与川崎病（KD）易感性相关的。然而，迄今为止，仅有一项中国的复制研究。为了在另一个中国人群中验证这种关联，在浙江省进行了一项基于医院的病例对照研究，随后进行了整合的荟萃分析，包括 5 项病例对照研究（1958 例病例，5615 例对照）和 503 个三核苷酸传递不平衡测试。在我们的病例对照研究中，与 rs2254546 的 GG 基因型或 GG/GA 基因型相比，GG 基因型与 KD 风险增加显著相关（OR=1.86，95%CI=1.01-3.41，P=0.045；OR=1.83，95%CI=1.01-3.33，P=0.048）；然而，在等位基因模型中没有发现显著关联（OR=1.20，95%CI=0.96-1.50，P=0.117）。荟萃分析进一步表明，G 等位基因与 KD 风险增加显著相关，且无异质性证据（OR=1.55，95%CI=1.42-1.70，P<0.001）。总之，rs2254546 多态性可能显著增加 KD 的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/c7f13858ce64/srep04247-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/3cdac0e573a2/srep04247-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/a9f3dd9c3e75/srep04247-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/c7f13858ce64/srep04247-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/3cdac0e573a2/srep04247-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/a9f3dd9c3e75/srep04247-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab74/3937782/c7f13858ce64/srep04247-f3.jpg

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