Linkage analysis of a region on chromosome 2 with essential hypertension in Chinese families

OBJECTIVE: To verify the linkage of the candidate regions identified in a previous study (markers D2S168, D2S151, D2S142 on chromosome 2) with hypertension in Chinese families. METHODS: A genetic linkage study focused on chromosome 2 was performed on 240 Chinese families containing 856 patients with essential hypertension. A total of 1080 individuals were genotyped using 9 highly polymorphic microsatellite markers around the candidate regions on chromosome 2 with an average spacing of 5 cM. Non-parametric linkage (NPL), parametric linkage analysis and transmission-disequilibrium test (TDT) with the GENEHUNTER software were used to assess evidence for linkage. RESULTS: Linkage of a region on chromosome 2 around D2S151 and D2S142 with hypertension was confirmed by different statistical methods (NPL, LOD score and TDT). However, the linkage of D2S168 could not be replicated in this extension study. CONCLUSIONS: The data suggest that a region on chromosome 2 at or near the loci of D2S142 and D2S151 may harbor genes responsible for the development of essential hypertension in Chinese.

目的 在一项全基因组扫描研究中 ,我们曾报道 2号染色体上三个微卫星标记 (D2S16 8、D2S15 1和D2S14 2 )与原发性高血压间存在提示连锁关系。本研究进一步验证中国人家系中上述候选区域的连锁关系。方法 在有 85 6名原发性高血压患者的 2 4 0个中国人家系中 ,对 2号染色体进行遗传连锁研究。用 9个位于 2号染色体候选区段内的高度多态性的微卫星标记 ,对 10 80名家系成员进行基因分型 ,两个相邻微卫星标记的间距为 5cM。用GENEHUNTER软件进行非参数连锁分析 (NPL)、参数连锁分析和传递 不平衡检验 (TDT)以判定有否连锁证据。结果 不同方法 (NPL、LOD分数值和TDT)的统计结果均证实 2号染色体上D2S15 1和D2S14 2位点及其附近区段与高血压间存在连锁关系 ,但D2S16 8位点与高血压的连锁关系在本研究中未能证实。结论 本研究结果揭示在中国人中 ,2号染色体上D2S15 1和D2S14 2位点及其附近区段可能存在与原发性高血压发病有关的基因。