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原发性高血压与18号染色体q臂的连锁关系。

Linkage of essential hypertension to chromosome 18q.

作者信息

Kristjansson Kristleifur, Manolescu Andrei, Kristinsson Arni, Hardarson Thordur, Knudsen Helga, Ingason Sigurdur, Thorleifsson Gudmar, Frigge Michael L, Kong Augustine, Gulcher Jeffrey R, Stefansson Kari

机构信息

deCODE genetics, Inc, Reykjavik, Iceland. kris@ decode.is

出版信息

Hypertension. 2002 Jun;39(6):1044-9. doi: 10.1161/01.hyp.0000018580.24644.18.

Abstract

We performed a genomewide scan with 904 microsatellite markers using 120 extended Icelandic families with 490 hypertensive patients. The families were identified by cross-matching a list of hypertensive patients from the Hypertension Clinic of the University Hospital (Landspitalinn) in Iceland with a genealogy database of the entire Icelandic nation. After adding 5 markers, we found linkage to chromosome 18q with an allele-sharing LOD score of 4.60 (P=2.1x 10(-6)). These results provide evidence for a novel susceptibility gene for essential hypertension on chromosome 18q and show that it is possible to study the genetics of essential hypertension without stratifying by subphenotypes.

摘要

我们使用904个微卫星标记,对120个冰岛扩展家族中的490名高血压患者进行了全基因组扫描。这些家族是通过将冰岛大学医院(Landspitalinn)高血压诊所的高血压患者名单与整个冰岛民族的族谱数据库进行交叉匹配而确定的。在添加5个标记后,我们发现与18号染色体长臂存在连锁,等位基因共享LOD得分为4.60(P = 2.1×10^(-6))。这些结果为18号染色体长臂上存在原发性高血压新的易感基因提供了证据,并表明无需按亚表型进行分层就有可能研究原发性高血压的遗传学。

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