Göpel Wolfgang, Kattner Evelyn, Seidenberg Jürgen, Kohlmann Thomas, Segerer Hugo, Möller Jens
Department of Pediatrics, University of Lübeck, Childrens Hospital Auf der Bult, Hannover, Germany.
J Pediatr. 2002 Jun;140(6):688-92. doi: 10.1067/mpd.2002.123666.
The 34Leu polymorphism of the factor XIII gene is associated with a low rate of brain infarction and a higher incidence of primary intracerebral hemorrhage in adults. We evaluated the effect of the polymorphism on the subsequent development of isolated intracranial hemorrhage and white matter disease in preterm infants with a birth weight <1500 g (very low birth weight [VLBW] infants).
We studied 531 VLBW infants and 301 control infants born at term. The factor XIII 34Leu polymorphism was detected by polymerase chain reaction and restriction enzyme digestion.
Allele frequencies were not different from term and VLBW infants (Val/Val, 53.1% and 57.8%; Val/Leu, 38.8% and 37.6%; Leu/Leu, 8.0% and 4.5%, respectively). VLBW infants carrying the Leu/Val or Leu/Leu allele had a significant reduced risk of the development of white matter disease (3.6% vs 10.4% in infants without the polymorphism, P =.003). In a multivariate logistic regression analysis, only gestational age <28 weeks (odds ratio, 3.8; 95% confidence interval, 1.9-7.5; P <.001), and the factor XIII 34Leu allele (odds ratio, 0.3; 95% confidence interval, 0.1-0.7; P =.005) had significant prognostic value in predicting subsequent white matter disease. However, VLBW infants who carried the factor XIII 34Leu allele also had a moderately increased risk of the subsequent development of isolated intraventricular hemorrhage (14.3% vs 10.1% in infants without the mutation, P =.17).
VLBW infants carrying the factor XIII 34Leu polymorphism had a decreased risk for white matter disorders.
凝血因子 XIII 基因的 34Leu 多态性与成人脑梗死发生率低及原发性脑出血发生率高相关。我们评估了该多态性对出生体重<1500g 的早产儿（极低出生体重[VLBW]儿）随后发生孤立性颅内出血和白质疾病的影响。
我们研究了 531 例 VLBW 儿和 301 例足月儿作为对照。通过聚合酶链反应和限制性酶切检测凝血因子 XIII 34Leu 多态性。
足月儿和 VLBW 儿的等位基因频率无差异（Val/Val 分别为 53.1%和 57.8%；Val/Leu 分别为 38.8%和 37.6%；Leu/Leu 分别为 8.0%和 4.5%）。携带 Leu/Val 或 Leu/Leu 等位基因的 VLBW 儿发生白质疾病的风险显著降低（3.6% vs 无该多态性的婴儿中的 10.4%，P = 0.003）。在多因素逻辑回归分析中，仅胎龄<28 周（比值比，3.8；95%置信区间，1.9 - 7.5；P < 0.001）和凝血因子 XIII 34Leu 等位基因（比值比，0.3；95%置信区间，0.1 - 0.7；P = 0.005）在预测随后的白质疾病方面具有显著的预后价值。然而，携带凝血因子 XIII 34Leu 等位基因的 VLBW 儿随后发生孤立性脑室内出血的风险也适度增加（14.3% vs 无该突变的婴儿中的 10.1%，P = 0.17）。
携带凝血因子 XIII 34Leu 多态性的 VLBW 儿发生白质疾病的风险降低。
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