Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p
Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p
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DOI：
10.1093/hmg/ddg135
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发表时间：
2003-06-01
影响因子：
3.5
通讯作者：
Hübner, N
中科院分区：
文献类型：
--
作者：
Gong, ML;Zhang, HY;Hübner, N
原发性高血压是心血管疾病发病率和死亡率的重要危险因素。血压在很大程度上是遗传的;然而，导致原发性高血压的遗传因素大多是未知的。我们研究了一个大型的中国亲属（n=387），并选择了一个子集的94个人的基因分型。另外还招募了32个患有原发性高血压的中国核心家庭。全基因组参数连锁分析在染色体12 p上发现了一个原发性高血压的新位点（参数LOD评分为3.44）。该位点与导致严重常染色体显性高血压和短指（趾）畸形的指定位点重叠，短指是迄今为止已知的唯一类似原发性高血压的单基因高血压形式。我们认为，这个基因组区域，跨越18个注释的基因，将是非常相关的阐明原发性高血压的新机制。
Essential (primary) hypertension is an important risk factor for cardiovascular morbidity and mortality. Blood pressure is largely heritable; however, the genetic factors contributing to essential hypertension are mostly unknown. We examined a large Chinese kindred (n=387) and selected a subset of 94 individuals for genotyping. An additional 32 Chinese nuclear families with essential hypertension were also recruited. Genome-wide parametric linkage analysis identified a new locus for primary hypertension on chromosome 12p (parametric LOD score 3.44). This locus overlaps with the assigned locus that causes severe autosomal-dominant hypertension and brachydactyly, the only form of monogenic hypertension known to date that resembles primary hypertension. We suggest that this genomic region, spanning 18 annotated genes, will be of great relevance in elucidating new mechanisms for primary hypertension.