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Systematic Confirmation Study of GWAS-Identified Genetic Variants for Kawasaki Disease in A Chinese Population

机译:GWAS鉴定的中国人群川崎病遗传变异的系统验证研究

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摘要

Genome-wide association studies (GWASs) have identified multiple single nucleotide polymorphisms (SNPs) associated with Kawasaki disease (KD). In this study, we replicated the associations of 10 GWAS-identified SNPs with KD in a Han Chinese population. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression, and cumulative effect of non-risk genotypes were also performed. Although none of the SNPs reached the corrected significance level, 4 SNPs showed nominal associations with KD risk. Compared with their respective wild type counterparts, rs1801274 AG+GG genotypes and rs3818298 TC+CC genotypes were nominally associated with the reduced risk of KD (OR = 0.77, 95% CI = 0.59–0.99, P = 0.045; OR = 0.74, 95% CI = 0.56–0.98, P = 0.038). Meanwhile, rs1801274 GG genotype, rs2736340 CC genotype or rs4813003 TT genotype showed a reduced risk trend (OR = 0.57, 95% CI = 0.35–0.93, P = 0.024; OR = 0.46, 95% CI = 0.26–0.83, P = 0.010; OR = 0.64, 95% CI = 0.43–0.94, P = 0.022), compared with rs1801274 AG+AA genotypes, rs2736340 CT+TT genotypes or rs4813003 TC+CC genotypes, respectively. Furthermore, a cumulative effect was observed with the ORs being gradually decreased with the increasing accumulative number of non-risk genotypes (Ptrend<0.001). In conclusion, our study suggests that 4 GWAS-identified SNPs, rs2736340, rs4813003, rs3818298 and rs1801274, were nominally associated with KD risk in a Han Chinese population individually and jointly.
机译:全基因组关联研究(GWAS)已确定与川崎病(KD)相关的多个单核苷酸多态性(SNP)。在这项研究中,我们在汉族人群中复制了10个经GWAS鉴定的SNP与KD的关联。通过逻辑回归计算赔率(OR)和95%置信区间(CI),并且还进行了非风险基因型的累积效应。尽管没有一个SNP达到校正的显着性水平,但有4个SNP显示出与KD风险的名义关联。与它们各自的野生型对应物相比,rs1801274 AG + GG基因型和rs3818298 TC + CC基因型与降低KD风险相关(OR = 0.77,95%CI = 0.59-0.99,P = 0.045; OR = 0.74,95 %CI = 0.56-0.98,P = 0.038)。同时,rs1801274 GG基因型,rs2736340 CC基因型或rs4813003 TT基因型显示出降低的风险趋势(OR = 0.57,95%CI = 0.35-0.93,P = 0.024; OR = 0.46,95%CI = 0.26-0.83,P = 0.010 ; OR = 0.64,95%CI = 0.43-0.94,P = 0.022),分别与rs1801274 AG + AA基因型,rs2736340 CT + TT基因型或rs4813003 TC + CC基因型相比。此外,观察到累积效应,随着非风险基因型的累积数量增加,OR逐渐降低(Ptrend <0.001)。总之,我们的研究表明,在汉族人群中,有4个GWAS鉴定的SNP rs2736340,rs4813003,rs3818298和rs1801274在名义上与KD风险相关。

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