Division of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, U.S.A.
Department of Pediatric Dentistry, Tufts University School of Dental Medicine, Boston, MA 02111, U.S.A.
Clin Sci (Lond). 2014 Jun;126(12):829-835. doi: 10.1042/CS20130652.
Recent animal and human studies have demonstrated the importance of the ROCK (RhoA/Rho-associated kinase) pathway in IsST (ischaemic stroke). Whether the genetic variation within ROCK-associated genes modulates the risk of IsST remains elusive. The association between 66 tSNPs [tagging SNPs (single nucleotide polymorphisms)] of three ROCK-associated genes [ROCK1, ROCK2 and ARHGEF10 (Rho guanine-nucleotide-exchange factor 10)] and the incidence of IsST was investigated in 23294 Caucasian female participants of the prospective WGHS (Women's Genome Health Study). All were free of known cancer and cardiovascular disease at baseline. During a 15-year follow-up period, 323 participants developed their first ever IsST. Multivariable Cox regression analysis was performed to investigate the relationship between genotypes and risk of IsST assuming an additive genetic model. Haplotype-block analysis was also performed. A total of ten tSNPs were associated with the risk of IsST (three in ARHGEF10 and seven in ROCK1; P<0.050). Further investigation using the haplotype-block analysis revealed a similar significant association of pre-specified haplotypes of ROCK1 with the risk of IsST (P=0.005). If corroborated in other large prospective studies, the findings of the present study suggest that genetic variation within the ROCK-associated pathway gene loci examined, and in particular ROCK1 gene variation, may influence the risk of IsST.
最近的动物和人体研究表明 ROCK(RhoA/Rho 相关激酶)通路在 IsST(缺血性中风)中的重要性。ROCK 相关基因内的遗传变异是否调节 IsST 的风险仍不清楚。在 23294 名高加索女性前瞻性 WGHS(女性基因组健康研究)参与者中,研究了三个 ROCK 相关基因(ROCK1、ROCK2 和 ARHGEF10(Rho 鸟苷酸交换因子 10))的 66 个 tSNP[标记 SNP(单核苷酸多态性)]与 IsST 发生率之间的关系。所有参与者在基线时均无已知的癌症和心血管疾病。在 15 年的随访期间,323 名参与者首次发生 IsST。采用多变量 Cox 回归分析,假设加性遗传模型,研究基因型与 IsST 风险之间的关系。还进行了单体型块分析。共有 10 个 tSNP 与 IsST 风险相关(ARHGEF10 中有 3 个,ROCK1 中有 7 个;P<0.050)。使用单体型块分析的进一步研究揭示了 ROCK1 前指定单体型与 IsST 风险之间存在类似的显著关联(P=0.005)。如果在其他大型前瞻性研究中得到证实,本研究的结果表明,所检查的 ROCK 相关途径基因座内的遗传变异,特别是 ROCK1 基因变异,可能影响 IsST 的风险。