基因多态性与房颤患者心动过速性心肌病的发生有关。
Gene Polymorphisms Are Associated With Occurrence of Tachycardia-Induced Cardiomyopathy in Patients With Atrial Fibrillation.
机构信息
Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan (Y.N., A.S., Y.O., T.T., C.M., H.M., S.T., M.A., N.H., S.O., Y.K.).
Laboratory for Digestive Diseases, RIKEN Center for Integrative Medical Sciences, Hiroshima, Japan (Y.N., H.O., K.C.).
出版信息
Circ Genom Precis Med. 2018 Jul;11(7):e001980. doi: 10.1161/CIRCGEN.117.001980.
BACKGROUND
Tachycardia-induced cardiomyopathy (TIC) is a reversible cardiomyopathy induced by tachyarrhythmia, and the genetic background of the TIC is not well understood. The hyperpolarization-activated cyclic nucleotide-gated channel gene is highly expressed in the conduction system where it is involved in heart rate control. We speculated that the gene is associated with TIC.
METHODS
We enrolled 930 Japanese patients with atrial fibrillation (AF) for screening, 350 Japanese patients with AF for replication, and 1635 non-AF controls. In the screening AF set, we compared single-nucleotide polymorphism genotypes between AF subjects with TIC (TIC, n=73) and without TIC (non-TIC, n=857). Of 17 gene-tag single-nucleotide polymorphisms, rs7172796, rs2680344, rs7164883, rs11631816, and rs12905211 were significantly associated with TIC. Among them, only rs7164883 was independently associated with TIC after conditional analysis (TIC versus non-TIC: minor allele frequency, 26.0% versus 9.7%; =1.62×10; odds ratio=3.2).
RESULTS
We confirmed this association of single-nucleotide polymorphism rs7164883 with TIC in the replication set (TIC=41 and non-TIC=309; minor allele frequency, 28% versus 9.9%; =1.94×10; odds ratio=3.6). The minor allele frequency of rs7164883 was similar in patients with AF and non-AF controls (11% versus 10.9%; =0.908).
CONCLUSIONS
The gene single-nucleotide polymorphism rs7164883 may be a new genetic marker for TIC in patients with AF.
背景
心动过速性心肌病（TIC）是由心动过速性心律失常引起的一种可逆转性心肌病，其 TIC 的遗传背景尚不清楚。超极化激活环核苷酸门控通道基因在心脏传导系统中高度表达，参与心率控制。我们推测该基因与 TIC 相关。
方法
我们共纳入 930 例日本房颤（AF）患者进行筛查，350 例日本 AF 患者进行复制，1635 例非 AF 对照。在筛查的 AF 组中，我们比较了 TIC（TIC，n=73）和非 TIC（非 TIC，n=857）的 AF 患者之间单核苷酸多态性基因型。在 17 个基因标记单核苷酸多态性中，rs7172796、rs2680344、rs7164883、rs11631816 和 rs12905211 与 TIC 显著相关。其中，只有 rs7164883 在条件分析后与 TIC 独立相关（TIC 与非 TIC：次要等位基因频率，26.0%与 9.7%；=1.62×10；比值比=3.2）。
结果
我们在复制组中证实了单核苷酸多态性 rs7164883 与 TIC 的关联（TIC=41，非 TIC=309；次要等位基因频率，28%与 9.9%；=1.94×10；比值比=3.6）。rs7164883 的次要等位基因频率在 AF 患者和非 AF 对照组中相似（11%与 10.9%；=0.908）。
结论
基因单核苷酸多态性 rs7164883 可能是 AF 患者 TIC 的新遗传标志物。
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