The association of CD81 polymorphisms with alloimmunization in sickle cell disease.
The association of CD81 polymorphisms with alloimmunization in sickle cell disease.
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DOI：
10.1155/2013/937846
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发表时间：
2013
影响因子：
--
通讯作者：
Vukmanovic S
中科院分区：
文献类型：
--
作者：
Tatari-Calderone Z;Tamouza R;Le Bouder GP;Dewan R;Luban NL;Lasserre J;Maury J;Lionnet F;Krishnamoorthy R;Girot R;Vukmanovic S
本研究的目的是鉴定镰状细胞病（SCD）同种异体免疫预测的候选遗传标记。红细胞（RBC）输注适用于急性治疗，预防和消除SCD的一些并发症。多次输血的一个众所周知的后果是同种异体免疫。考虑到一部分SCD患者出现多种红细胞同种异体/自身抗体，而其他患者在类似的多次输血环境中没有，我们研究了同种异体免疫的可能遗传基础。预测异体免疫易感性的生物标志物可以在输血计划开始之前识别有风险的患者，因此可能对临床管理具有重要意义。此外，这些标记物可以阐明同种异体免疫的机制。我们对两组SCD患者的CD81、CHRNA10和ARHG基因中的27个单核苷酸多态性（snp）进行了基因分型。一组（35例）患者出现同种异体抗体，另一组（40例）患者尽管接受了多次输血，但没有出现同种异体抗体。编码B淋巴细胞信号调节分子的CD81基因中的两个snp与同种异体免疫密切相关。如果在更大队列的前瞻性研究中得到证实，本回顾性研究中发现的两个snp可以作为异体免疫的预测性生物标志物。
The goal of the present work was to identify the candidate genetic markers predictive of alloimmunization in sickle cell disease (SCD). Red blood cell (RBC) transfusion is indicated for acute treatment, prevention, and abrogation of some complications of SCD. A well-known consequence of multiple RBC transfusions is alloimmunization. Given that a subset of SCD patients develop multiple RBC allo-/autoantibodies, while others do not in a similar multiple transfusional setting, we investigated a possible genetic basis for alloimmunization. Biomarker(s) which predicts (predict) susceptibility to alloimmunization could identify patients at risk before the onset of a transfusion program and thus may have important implications for clinical management. In addition, such markers could shed light on the mechanism(s) underlying alloimmunization. We genotyped 27 single nucleotide polymorphisms (SNPs) in the CD81, CHRNA10, and ARHG genes in two groups of SCD patients. One group (35) of patients developed alloantibodies, and another (40) had no alloantibodies despite having received multiple transfusions. Two SNPs in the CD81 gene, that encodes molecule involved in the signal modulation of B lymphocytes, show a strong association with alloimmunization. If confirmed in prospective studies with larger cohorts, the two SNPs identified in this retrospective study could serve as predictive biomarkers for alloimmunization.
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