Parmeggiani Francesco, Costagliola Ciro, Incorvaia Carlo, Gemmati Donato, D'Angelo Sergio, Tognazzo Silvia, Scapoli Gian Luigi, Sebastiani Adolfo
Department of Ophthalmology, University of Ferrara, Corso Giovecca 203, 44100 Ferrara, Italy.
Am J Ophthalmol. 2004 Sep;138(3):481-4. doi: 10.1016/j.ajo.2004.03.017.
To verify the prevalence of Val34Leu polymorphism in factor XIII A-chain gene (FXIII Val34Leu) in patients with spontaneous subconjunctival hemorrhage (SCH).
Nonrandomized case-control study.
One hundred seven white patients suffering from one or more episodes of idiopathic SCH and 107 healthy subjects were matched for age and gender, and genotyped for FXIII Val34Leu. Anamnestic, ophthalmologic, cardiovascular, and serologic examinations were performed.
Frequency of FXIII mutated allele (Leu34) was significantly higher in SCH patients than in controls. Computing together heterozygotes (Val/Leu) and homozygotes (Leu/Leu), genotype distribution was statistically different. In a conditional logistic regression model, the comparison of the three separated genotypes, performed among 25 patients with recurrent idiopathic SCHs and controls, gave significant differences for both Val/Leu and Leu/Leu variables.
Both homozygosity and heterozygosity for FXIII Val34Leu predispose to idiopathic SCH, emphasizing the role of Leu34 allele as inherited risk factor for spontaneous, especially recurrent, SCHs.
验证因子 XIII A 链基因（FXIII Val34Leu）中 Val34Leu 多态性在自发性结膜下出血（SCH）患者中的患病率。
非随机病例对照研究。
107 例患有一次或多次特发性 SCH 的白人患者和 107 名健康受试者按年龄和性别匹配，并对 FXIII Val34Leu 进行基因分型。进行了既往史、眼科、心血管和血清学检查。
SCH 患者中 FXIII 突变等位基因（Leu34）的频率显著高于对照组。将杂合子（Val/Leu）和纯合子（Leu/Leu）合并计算，基因型分布有统计学差异。在条件逻辑回归模型中，对 25 例复发性特发性 SCH 患者和对照组的三种分离基因型进行比较，Val/Leu 和 Leu/Leu 变量均有显著差异。
FXIII Val34Leu 的纯合性和杂合性均易患特发性 SCH，强调 Leu34 等位基因作为自发性尤其是复发性 SCH 的遗传危险因素的作用。
