A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population
A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population
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DOI：
10.1111/j.1469-1809.2011.00642.x
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发表时间：
2011-05-01
影响因子：
1.9
通讯作者：
Simon-Bouy, Brigitte
中科院分区：
文献类型：
--
作者：
Mornet, Etienne;Yvard, Alice;Simon-Bouy, Brigitte
低磷酸酶症（HP）是一种罕见的代谢紊乱，由于ALPL基因的功能丧失突变，在欧洲人群中的患病率从未被估计过。只有一项已发表的研究评估了53年前加拿大重度HP的发病率为1/100，000。中度形式的低磷酸酶症（mHP），包括具有中度骨骼特征的HP和最轻度形式的牙齿低磷酸酶症，反映了隐性和显性遗传，因此预计比重度形式的HP更常见。在这里，我们估计了欧洲人群中重度和mHP的患病率。根据2000-2009年期间在我们实验室检测的来自法国的病例数，重度HP的患病率估计为1/300，000。然后通过使用严重等位基因中显性突变的比例和通过估计显性突变杂合子中疾病的患病率来估计mHP的患病率。根据具有4个等位基因导致10种不同基因型的遗传模型，估计欧洲人群中显性mHP的患病率为1/6370，指出mHP比重度HP更常见。
P>The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss-of-function mutations in the ALPL gene, has never been estimated in the European population. Only one published study evaluated the incidence of severe HP at 1/100,000 in Canada 53 years ago. Moderate forms of hypophosphatasia (mHP), including HP with moderate bone features and the mildest form odontohypophosphatasia, reflect both recessive and dominant inheritance, and are therefore expected to be more frequent than severe forms of HP. Here we estimated both the prevalences of severe and mHP in European populations. The prevalence of severe HP was estimated at 1/300,000 on the basis of the number of cases tested in our laboratory and originating from France during the period 2000-2009. The prevalence of mHP was then estimated by using the proportion of dominant mutations among severe alleles and by estimating the penetrance of the disease in heterozygotes for dominant mutations. According to a genetic model with four alleles resulting in 10 distinct genotypes, the prevalence of dominant mHP in the European population was estimated to be 1/6370, pointing out that mHP is much more frequent than severe HP.