Ciccarelli M, Finelli R, Rivera N, Santulli G, Izzo R, De Luca N, Rozza F, Ceccarelli M, Pagnotta S, Uliano F, Tremigliozzi R, Condorelli G, Trimarco V, Iaccarino G
Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
Respiratory Unit, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
J Hum Hypertens. 2017 Jan;31(1):37-42. doi: 10.1038/jhh.2016.9. Epub 2016 Feb 25.
Familiarity participates in the pathogenesis of hypertension, although only recently, whole genome studies have proposed regions of the human genome possibly involved in the transmission of the hypertensive phenotype. Although studies have mainly focused on autosome, hitherto the influence of sex on familial transmission of hypertension has not been considered. We analysed the database of the Campania Salute Network of Hypertension center of the Federico II University Hospital of Naples (Italy), using dichotomous variables for paternal and maternal familiarity and gender (male and female) of 12 504 hypertensive patients (6868 males and 5636 females) and 6352 controls (3484 males and 2868 females), totaling 18 856 subjects. In the hypertensive group, familiarity was present in 75% of cases with odds of 3.77 and in only 26% of the normotensives with odds of 0.94. The odds ratio (OR) indicated that familiarity increases the risk of developing hypertension by 2.91 (95% confidence interval (CI)=2.67-3.17, P<0.001) times. Additionally, maternal familiarity was 37% (OR=3.01, 95% CI=2.66-3.41, P<0.001), paternal familiarity was 21% (OR=2.31, 95% CI=2.01-2.68, P<0.001) and the double familiarity was 17% (OR=3.45, 95% CI=2.87-4.01, P<0.001), thus suggesting a plausible association between maternal familiarity and development of hypertension; this finding was observed both in male and in female patients, although the phenomenon was larger in males. Given the dominance of maternal transmission in males, by genome-wide analysis of the X chromosome, we found two regions that were differently distributed in male hypertensives with maternal hypertension. Our data highlight the importance of genetic variants in the X chromosome to the maternal transmission of the hypertensive phenotype.
家族史参与高血压的发病机制,尽管直到最近,全基因组研究才提出人类基因组中可能与高血压表型传递有关的区域。虽然研究主要集中在常染色体上,但迄今为止,尚未考虑性别对高血压家族传递的影响。我们分析了意大利那不勒斯费德里科二世大学医院高血压中心坎帕尼亚健康网络的数据库,使用二分变量来表示12504例高血压患者(6868例男性和5636例女性)以及6352例对照(3484例男性和2868例女性)的父母家族史和性别(男性和女性),共计18856名受试者。在高血压组中,75%的病例有家族史,比值比为3.77,而在正常血压者中只有26%有家族史,比值比为0.94。优势比(OR)表明家族史使患高血压的风险增加2.91倍(95%置信区间(CI)=2.67 - 3.17,P<0.001)。此外,母亲家族史为37%(OR = 3.01,95% CI = 2.66 - 3.41,P<0.001),父亲家族史为21%(OR = 2.31,95% CI = 2.01 - 2.68,P<0.001),双亲家族史为17%(OR = 3.45,95% CI = 2.87 - 4.01,P<0.001),这表明母亲家族史与高血压发病之间可能存在关联;在男性和女性患者中均观察到这一发现,尽管该现象在男性中更为明显。鉴于男性中母亲传递的主导性,通过对X染色体进行全基因组分析,我们在患有母亲高血压的男性高血压患者中发现了两个分布不同的区域。我们的数据突出了X染色体上的基因变异对高血压表型母亲传递的重要性。