mTOR基因rs2295079和rs2295080位点多态性与川崎病的关联性
| 作者: |
1刘锐,
1罗颉,
1查鹭婷,
1钱玉洁,
1刘欣,
1杨作成
1 中南大学湘雅三医院儿科，长沙 410013 |
| 通讯: |
杨作成
Email: yang_zcr@126.com |
| DOI: | 10.3978/j.issn.2095-6959.2018.01.008 |
| 基金: | 中南大学湘雅三医院新湘雅人才工程(20150312)。 |
摘要
目的：检测哺乳动物雷帕霉素蛋白(mammalian target of rapamycin，mTOR)基因rs2295079(G>C)，rs2295080(C>A)位点多态性与川崎病(Kawasaki disease，KD)易感性及冠状动脉损伤(coronary artery lesion，CAL)的关系。方法：采取病例对照研究方法，选取100例KD患儿(KD组)，其中出现CAL者20例(KD-CAL组)，未出现CAL者80例(KD-WO组)；100例健康儿童作为对照组。检测2个位点的多态性分布。结果：在KD组与对照组及KD-CAL组与KD-WO组中，rs2295079(G>C)，rs2295080(C>A)位点的等位基因频率与基因型频率分布差异无统计学意义(P>0.05)。结论：未发现mTOR基因rs2295079(G>C)，rs2295080(C>A)位点的多态性与KD易感性及CAL存在关联性。
关键词：
川崎病；mTOR基因；单核苷酸多态性
Association between single nucleotide polymorphism rs2295080 and rs2295080 in mTOR gene and Kawasaki disease
CorrespondingAuthor: YANG Zuocheng Email: yang_zcr@126.com
DOI: 10.3978/j.issn.2095-6959.2018.01.008
Foundation: This work was supported by the New Xiangya Talent Project of The Third Xiangya Hospital, Central South University
Abstract
Objective: To investigate the association of single nucleotide polymorphism (SNP) of loci rs2295079 (G>C) and rs2295080 (C>A) in mammalian target of rapamycin (mTOR) gene with the susceptibility of Kawasaki disease (KD) and coronary artery lesion (CAL). Methods: A case-control study was performed by recruitment of 100 children with KD (KD group) and 100 healthy children (control group) as controls. In the KD group, there were 20 children with CAL (KD-CAL group) and 80 children without CAL (KD-WO group). Genotypes of these two SNP were detected and analyzed. Results: No significant difference was found in the frequency distribution of allele and genotype of SNP of loci rs2295079 (G>C) and rs2295080 (C>A) between the KD group and controls, the KD-CAL group and KD-WO group. Conclusion: No association is found between SNP of loci rs2295079 (G>C) and rs2295080 (C>A) in mTOR gene and the development of KD.
Keywords：
Kawasaki disease; mTOR gene; single nucleotide polymorphism