A genome-wide association study first reported the association between ischemic stroke risk and two polymorphisms on chromosome 12p13: rs12425791 and rs11833579. Since then, a series of studies have investigated the association of these two polymorphisms with stroke risk, but the results were inconsistent even in Asian populations. Thus, we carried out a case-control study to uncover the potential relationship, and then conducted a meta-analysis to further address the issue. 540 ischemic stroke patients and 540 unrelated controls were enrolled in the case-control study. Genotyping was accomplished by polymerase chain reaction-ligation detection reaction. The meta-analysis was conducted by combining our study with previous published data. In our case-control study, the significant association was observed between ischemic stroke and rs12425791 (AG vs. GG: OR = 1.32, P < 0.05) but not rs11833579. When pooled with previous studies, the significant relationship of rs12425791 with ischemic stroke was found (A vs. G: OR = 1.07, P < 0.05; AA + AG vs. GG: OR = 1.10, P < 0.05) in Asian populations, as well as in subgroup analysis. A correlation approaching significance was identified between ischemic stroke risk and rs11833579 (AA + AG vs. GG: OR = 1.06, P = 0.05). New evidence from this case-control study and meta-analysis indicates that 12p13 rs12425791/rs11833579 polymorphisms are associated with ischemic stroke susceptibility in Asian populations.

中文翻译：

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12p13基因多态性与亚洲人群缺血性卒中之间的关联：病例对照研究和荟萃分析的新证据。

全基因组关联研究首先报道了缺血性中风风险与12p13染色体上的两个多态性之间的关联：rs12425791和rs11833579。此后，一系列研究调查了这两种多态性与中风风险的关系，但即使在亚洲人群中，结果也不一致。因此，我们进行了病例对照研究以发现潜在的关系，然后进行了荟萃分析以进一步解决该问题。540名缺血性中风患者和540名无关的对照组参加了病例对照研究。通过聚合酶链反应-连接检测反应完成基因分型。荟萃分析是通过将我们的研究与以前发表的数据相结合进行的。在我们的病例对照研究中，缺血性卒中与rs12425791之间存在显着相关性（AG vs. GG：OR = 1.32，P <0.05），而rs11833579没有。与以前的研究汇总后，在亚洲人群中发现rs12425791与缺血性卒中的显着相关性（A对G：OR = 1.07，P <0.05； AA + AG对GG：OR = 1.10，P <0.05），以及在亚组分析中。在缺血性卒中风险和rs11833579之间（AA + AG与GG：OR = 1.06，P = 0.05）之间的相关性接近显着性。这项病例对照研究和荟萃分析的新证据表明，12p13 rs12425791 / rs11833579多态性与亚洲人群的缺血性中风易感性有关。在亚洲人群以及亚组分析中，发现rs12425791与缺血性卒中的显着相关性（A对G：OR = 1.07，P <0.05； AA + AG对GG：OR = 1.10，P <0.05）。在缺血性卒中风险和rs11833579之间（AA + AG与GG：OR = 1.06，P = 0.05）之间的相关性接近显着性。这项病例对照研究和荟萃分析的新证据表明，12p13 rs12425791 / rs11833579多态性与亚洲人群的缺血性中风易感性有关。在亚洲人群以及亚组分析中，发现rs12425791与缺血性卒中的显着相关性（A对G：OR = 1.07，P <0.05； AA + AG对GG：OR = 1.10，P <0.05）。在缺血性卒中风险与rs11833579之间（AA + AG与GG：OR = 1.06，P = 0.05）之间的相关性接近显着性。这项病例对照研究和荟萃分析的新证据表明，12p13 rs12425791 / rs11833579多态性与亚洲人群的缺血性中风易感性有关。