Savic Milan, Cvjeticanin Suzana, Lazovic Milica, Nikcevic Ljubica, Nikolic Dejan
Special Hospital for Cerebrovascular Diseases "Sveti Sava", Belgrade 11000, Serbia.
Institute for Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.
J Clin Med. 2018 Jun 26;7(7):162. doi: 10.3390/jcm7070162.
In this study, we evaluated and compared the morphogenetic variability and the degree of recessive homozygosity in patients with manifested ischemic stroke compared to healthy controls. We have evaluated 120 patients with manifested ischemic stroke, of which 64 did not have hypertension and 56 have hypertension. For comparison, we additionally tested 194 healthy individuals without manifested ischemic stroke (controls). For the estimation of the degree of recessive homozygosity, we have performed the homozygously recessive characteristics (HRC) test and tested 19 HRCs. There was a significant difference in the individual variations of 19 HRCs between the controls and patients with manifested ischemic stroke (∑χ² = 60.162, < 0.01). The mean values of the tested HRCs significantly differed between the controls and group with manifested ischemic stroke (Controls − 5.71 ± 1.61, Ischemic stroke group − 6.25 ± 1.54, = 0.012). For the tested individuals with hypertension, the mean values of HRCs did not significantly differ between the controls and those that had manifested ischemic stroke (Controls − 5.28 ± 1.75, Ischemic stroke group − 5.64 ± 1.48, = 0.435). We found a significant difference in the frequencies of HRCs between those with and without hypertension for controls ( < 0.003) and for those with manifested ischemic stroke ( < 0.001). There are increased degrees of recessive homozygosity along with decreased variability in patients with manifested ischemic stroke compared to controls.
在本研究中，我们评估并比较了有明显缺血性中风的患者与健康对照者的形态发生变异性和隐性纯合度。我们评估了120例有明显缺血性中风的患者，其中64例没有高血压，56例有高血压。为作比较，我们额外检测了194名无明显缺血性中风的健康个体（对照组）。为估计隐性纯合度，我们进行了纯合隐性特征（HRC）检测，并检测了19个HRC。对照组与有明显缺血性中风的患者之间，19个HRC的个体变异存在显著差异（∑χ² = 60.162，< 0.01）。检测的HRC的平均值在对照组与有明显缺血性中风的组之间存在显著差异（对照组−5.71 ± 1.61，缺血性中风组−6.25 ± 1.54，= 0.012）。对于检测的有高血压的个体，HRC的平均值在对照组与有明显缺血性中风的个体之间无显著差异（对照组−5.28 ± 1.75，缺血性中风组−5.64 ± 1.48，= 0.435）。我们发现，对照组中有高血压和无高血压的个体之间，以及有明显缺血性中风的个体中，HRC的频率存在显著差异（< 0.003和< 0.001）。与对照组相比，有明显缺血性中风的患者隐性纯合度增加，变异性降低。
