Weder A B, Schork N J, Julius S
Department of Internal Medicine, University of Michigan, Ann Arbor 48109-0356.
Hypertension. 1991 Jun;17(6 Pt 2):977-81. doi: 10.1161/01.hyp.17.6.977.
Human essential hypertension is a family of diseases; one subtype has an increased maximum velocity for red blood cell lithium-sodium countertransport activity. To begin the localization of the gene or genes responsible for this phenotype, we examined the association of blood pressure, lithium-sodium countertransport, and two genetic markers previously associated with hypertension--the MN blood group antigen (chromosome 4) and the plasma protein haptoglobin (chromosome 18)--in a population-based sample of 592 young adults from Tecumseh, Mich., the site of an ongoing cardiovascular epidemiological investigation. Our results suggest that the relation between MN phenotype and systolic blood pressure is significantly different and oppositely directed in men and women. Analysis of data available from previous examinations revealed that similar blood pressure differences related to MN phenotype had been present at least a decade earlier in both men and women. There also was a significant relation between systolic blood pressure and haptoglobin phenotype for the combined group of men and women. In addition to having high systolic blood pressure, men with the MM phenotype had significantly elevated red blood cell lithium-sodium countertransport activity. In studies of brother-brother pairs, we found evidence for significant genetic linkage between the MN locus and red blood cell lithium-sodium countertransport activity.
人类原发性高血压是一类疾病；其中一个亚型的红细胞锂 - 钠逆向转运活性的最大速度增加。为了开始定位负责此表型的一个或多个基因，我们在来自密歇根州蒂卡姆西的592名年轻成年人的基于人群的样本中，研究了血压、锂 - 钠逆向转运以及先前与高血压相关的两个遗传标记——MN血型抗原（第4号染色体）和血浆蛋白触珠蛋白（第18号染色体）之间的关联，蒂卡姆西是正在进行的心血管流行病学调查地点。我们的结果表明，MN表型与收缩压之间的关系在男性和女性中显著不同且方向相反。对先前检查可得数据的分析显示，至少在十年前，男性和女性中就已存在与MN表型相关的类似血压差异。男性和女性的合并组中，收缩压与触珠蛋白表型之间也存在显著关系。除了收缩压高之外，具有MM表型的男性红细胞锂 - 钠逆向转运活性显著升高。在对兄弟对的研究中，我们发现MN位点与红细胞锂 - 钠逆向转运活性之间存在显著遗传连锁的证据。
