Department of Ophthalmology, Clinical and Research Centre for Molecular Neurology, Semmelweis University, Budapest, Tömö u. 25-29, Hungary.
J Glaucoma. 2011 Mar;20(3):143-7. doi: 10.1097/IJG.0b013e3181d9d8dd.
To investigate whether the single nucleotide polymorphisms (SNPs) of the LOXL1 gene associated with exfoliation syndrome (XFS) and exfoliative glaucoma (XFG) are different in XFS/XFG patients with and without cardiovascular disease (CVD); and to compare the allele frequencies in XFS/XFG with those in ischemic cerebrovascular disease (stroke), in the Hungarian population.
G153D and R141L allele frequencies were determined for 56 XFS/XFG patients (10 patients with and 45 without CVD, 1 patient unclassified), and for 189 patients with stroke.
For G153D the frequencies of guanine (G) and adenine (A) alleles were 71.4% and 28.6% in the ischemic stroke group, and 58.0% and 42.0% in XFS/XFG (χ test, P=0.008). The corresponding figures in XFS/XFG without CVD were 56.7% and 43.3%, and 60.0% and 40.0% in XFS/XFG with CVD (P=0.785). For R141L the frequencies of G and timidine (T) alleles were 68.2% and 31.7% in stroke patients, and 82.1% and 17.9% in XFS/XFG (P=0.004). No difference was seen for allele frequency distribution between XFS/XFG patients without and with CVD (84.4% and 15.6%; 80.0% and 20.0%, respectively, P=0.738).
In Hungarians, the frequency of G (risk) allele of G153D SNP was low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was different in XFS/XFG and ischemic stroke. These results suggest that the G allele in these SNPs has no direct role in the development of vascular diseases associated with XFS/XFG.
研究与剥脱综合征（XFS）和剥脱性青光眼（XFG）相关的 LOXL1 基因单核苷酸多态性（SNP）在伴或不伴心血管疾病（CVD）的 XFS/XFG 患者中是否不同；并比较匈牙利人群中 XFS/XFG 与缺血性脑血管病（中风）的等位基因频率。
测定 56 例 XFS/XFG 患者（10 例伴 CVD，45 例不伴 CVD，1 例未分类）和 189 例中风患者的 G153D 和 R141L 等位基因频率。
G153D 中，鸟嘌呤（G）和腺嘌呤（A）等位基因频率在缺血性中风组分别为 71.4%和 28.6%，在 XFS/XFG 组分别为 58.0%和 42.0%（卡方检验，P=0.008）。XFS/XFG 无 CVD 患者分别为 56.7%和 43.3%，XFS/XFG 伴 CVD 患者分别为 60.0%和 40.0%（P=0.785）。R141L 中，G 和胸腺嘧啶（T）等位基因频率在中风患者中分别为 68.2%和 31.7%，在 XFS/XFG 中分别为 82.1%和 17.9%（P=0.004）。XFS/XFG 患者伴或不伴 CVD 时，等位基因频率分布无差异（分别为 84.4%和 15.6%；80.0%和 20.0%，P=0.738）。
在匈牙利人群中，XFS/XFG 中 G153D SNP 的 G（风险）等位基因频率较低。LOXL1 基因 R141L 和 G153D SNPs 的 G 等位基因在伴或不伴 CVD 的 XFS/XFG 患者之间无差异，但在 XFS/XFG 与缺血性中风之间存在差异。这些结果表明，这些 SNP 中的 G 等位基因在与 XFS/XFG 相关的血管疾病的发展中没有直接作用。
