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波兰的区域 HLA 差异及其对干细胞捐献者登记规划的影响。

Regional HLA differences in Poland and their effect on stem cell donor registry planning.

机构信息

DKMS German Bone Marrow Donor Center, Tübingen, Germany ; DKMS Life Science Lab, Dresden, Germany.

出版信息

PLoS One. 2013 Sep 12;8(9):e73835. doi: 10.1371/journal.pone.0073835. eCollection 2013.

Abstract

Regional HLA frequency differences are of potential relevance for the optimization of stem cell donor recruitment. We analyzed a very large sample (n = 123,749) of registered Polish stem cell donors. Donor figures by 1-digit postal code regions ranged from n = 5,243 (region 9) to n = 19,661 (region 8). Simulations based on region-specific haplotype frequencies showed that donor recruitment in regions 0, 2, 3 and 4 (mainly located in the south-eastern part of Poland) resulted in an above-average increase of matching probabilities for Polish patients. Regions 1, 7, 8, 9 (mainly located in the northern part of Poland) showed an opposite behavior. However, HLA frequency differences between regions were generally small. A strong indication for regionally focused donor recruitment efforts can, therefore, not be derived from our analyses. Results of haplotype frequency estimations showed sample size effects even for sizes between n≈5,000 and n≈20,000. This observation deserves further attention as most published haplotype frequency estimations are based on much smaller samples.

摘要

区域 HLA 频率差异对于优化干细胞供者招募具有潜在意义。我们分析了一个非常大的波兰干细胞供者登记样本(n=123749)。按 1 位邮政编码区域划分的供者人数从 n=5243(第 9 区)到 n=19661(第 8 区)不等。基于区域特定单倍型频率的模拟表明,在区域 0、2、3 和 4(主要位于波兰东南部)进行供者招募可显著提高波兰患者的匹配概率。区域 1、7、8、9(主要位于波兰北部)则表现出相反的行为。然而,区域之间的 HLA 频率差异通常较小。因此,我们的分析结果并不能证明需要有针对性地在区域内进行供者招募。单倍型频率估计的结果表明,即使在 n≈5000 到 n≈20000 之间的样本量下,也存在样本量效应。这一观察结果值得进一步关注,因为大多数已发表的单倍型频率估计都是基于更小的样本量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a01b/3772002/39224172c9c1/pone.0073835.g001.jpg

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