BLK基因多态性与川崎病及其临床特点的相关性

Association between gene polymorphism of BLK gene and clinical characteristic in Kawasaki disease

目的探讨汉族人群中BLK基因2个SNP位点rs2736340和rs2618476的多态性与川崎病(KD)以及动脉损伤的相关性。方法采取病例对照研究方法,分别选取179例KD患儿和同期182例体检正常儿童作为研究对象。利用PCRRFLP的方法测定BLK基因两个SNP位点多态性分布,并进行统计分析。结果 SNP位点(rs2736340)3种基因型(TT、CT和CC)在KD组与对照组之间分布的差异无统计学意义(P=0.093);但KD患儿T等位基因频率高于对照组,差异有统计意义(P=0.021)。SNP位点(rs2618476)3种基因型(CC、CT、TT)分布,在KD患儿与对照组之间的差异有统计学意义(P=0.021),KD组患儿CC基因型比例较高;且KD患儿C等位基因频率高于对照组,差异有统计意义(P=0.006)。KD患儿中2个SNP位点多态性均与皮疹、手足水肿以及动脉损伤无相关性,SNP(rs2618476)的多态性和口腔黏膜病变相关(P=0.018)。结论 BLK基因SNP位点(rs2736340)的T等位基因与KD相关。另一SNP位点(rs2618476)多态性与KD易感性相关;且KD患儿中该位点的多态性与口腔黏膜病变相关。

ObjectiveTo investigate the association of two single nucleotide polymorphisms （SNPs） （rs2736340 and rs2618476） inBLK gene with Kawasaki disease （KD） and coronary artery lesion in Chinese Han children.MethodsIn the case-control study, 179 children with KD were selected and 182 healthy check-up children during the same period were selected as normal controls. The genotypes of two SNPs inBLK gene were detected using PCR-RFLP and the data were analyzed. ResultsThere was no difference in distribution of three genotypes （TT, CT, and CC） of SNP rs2736340 between KD group and control group （P=0.093）. However, T allele frequency in KD group was signiifcantly higher than that in control group （P=0.021）. The distribution of three genotypes （CC, CT, and TT） of SNP rs2618476 between KD group and control group was signiifcantly different （P=0.021）. C allele frequency in KD group was signiifcantly higher than that in control group （P=0.006）. The two SNPs inBLK gene were not associated with rash, hand-foot edema and coronary artery lesion （CAL）, but SNP （rs2618476） was asso-ciated with oral mucosa lesions （P=0.018）.ConclusionsThe SNP （rs2736340） inBLK gene was not associated with KD, but the T-allele was associated with KD. The SNP （rs2618476） was associated with KD in Han Chinese, and was also associated with oral mucosa lesions in KD patients.