常见类型中风易感性基因定位于5q12。
Localization of a susceptibility gene for common forms of stroke to 5q12.
作者信息
Gretarsdottir Solveig, Sveinbjörnsdottir Sigurlaug, Jonsson Hjörtur H, Jakobsson Finnbogi, Einarsdottir Elisabet, Agnarsson Uggi, Shkolny Dana, Einarsson Gisli, Gudjonsdottir Herdis M, Valdimarsson Einar M, Einarsson Olafur B, Thorgeirsson Gudmundur, Hadzic Radinka, Jonsdottir Sif, Reynisdottir Sigridur Th, Bjarnadottir Sigrun M, Gudmundsdottir Thorunn, Gudlaugsdottir Gudrun J, Gill Ramanjit, Lindpaintner Klaus, Sainz Jesus, Hannesson Helgi H, Sigurdsson Gunnar Th, Frigge Michael L, Kong Augustine, Gudnason Vilmundur, Stefansson Kari, Gulcher Jeffrey R
机构信息
deCODE Genetics, Reykjavik, Iceland.
出版信息
Am J Hum Genet. 2002 Mar;70(3):593-603. doi: 10.1086/339252. Epub 2002 Feb 6.
Stroke is one of the most complex diseases, with several subtypes, as well as secondary risk factors, such as hypertension, hyperlipidemia, and diabetes, which, in turn, have genetic and environmental risk factors of their own. Here, we report the results of a genomewide search for susceptibility genes for the common forms of stroke. We cross-matched a population-based list of patients with stroke in Iceland with an extensive computerized genealogy database clustering 476 patients with stroke within 179 extended pedigrees. Linkage to 5q12 was detected, and the LOD score at this locus meets the criteria for genomewide significance (multipoint allele-sharing LOD score of 4.40, P=3.9 x 10(-6)). A 20-cM region on 5q was physically and genetically mapped to obtain accurate marker order and intermarker distances. This locus on 5q12, which we have designated as "STRK1," does not correspond to known susceptibility loci for stroke or for its risk factors and represents the first mapping of a locus for common stroke.
中风是最复杂的疾病之一，有多种亚型以及诸如高血压、高脂血症和糖尿病等二级风险因素，而这些风险因素本身又有遗传和环境方面的风险因素。在此，我们报告了一项针对常见中风类型易感性基因的全基因组搜索结果。我们将冰岛基于人群的中风患者名单与一个广泛的计算机化系谱数据库进行交叉匹配，该数据库将476名中风患者聚集在179个扩展家系中。检测到与5q12存在连锁关系，该位点的LOD分数符合全基因组显著性标准（多点等位基因共享LOD分数为4.40，P = 3.9×10⁻⁶）。对5q上一个20厘摩的区域进行了物理和遗传定位，以获得准确的标记顺序和标记间距离。我们将5q12上的这个位点命名为“STRK1”，它与已知的中风或其风险因素的易感性位点不对应，代表了常见中风一个位点的首次定位。
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