CD209 - 336A/G启动子多态性及其在埃及镰状细胞病儿科患者中的临床关联

CD209-336A/G promotor polymorphism and its clinical associations in sickle cell disease Egyptian Pediatric patients.

作者信息

Afifi Rasha Abdel-Raouf, Kamal Dina, Sayed Riham El, Ekladious Sherif M M, Shaheen Gehan H, Yousry Sherif M, Hussein Rania Elsayed

机构信息

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

出版信息

Hematol Oncol Stem Cell Ther. 2018 Jun;11(2):75-81. doi: 10.1016/j.hemonc.2017.09.002. Epub 2017 Oct 26.

DOI:10.1016/j.hemonc.2017.09.002

PMID:29100978

Abstract

OBJECTIVES

To detect the frequency of CD209 A>G polymorphism in sickle cell disease (SCD) Egyptian patients and to evaluate the use of CD209 A>G polymorphism as a genetic predictor of SCD clinical heterogeneity.

METHODS

A total of 100 Egyptian children with SCD and 100 Egyptian controls were tested for CD209 A>G polymorphism and were followed up prospectively between June 2012 and December 2014.

RESULTS

Comparison of CD209 A>G polymorphism among cases and controls did not show statistically significant difference (p = .742). In addition, comparison of the allelic frequency did not show statistically significant difference (p = .738). Infections occurred more frequently among the heterozygous genotype (AG; 60.5%) and homozygous genotype (GG; 75%) patients than among the wild (AA) genotype (24.1%; p < .001). The use of hydroxyurea treatment was significantly higher among the wild (AA) genotype (47%) than the heterozygous (AG; 21%) and homozygous (GG; 5%) genotypes (p = .003).

CONCLUSION

We found no significant difference between our population of Egyptian SCD cases and controls regarding CD209 A>G polymorphism. Infections occurred more frequently among the heterozygous genotype (AG) and homozygous genotype (GG) patients.

摘要

目的

检测埃及镰状细胞病（SCD）患者中CD209 A>G多态性的频率，并评估CD209 A>G多态性作为SCD临床异质性遗传预测指标的作用。

方法

对100例埃及SCD患儿和100例埃及对照进行CD209 A>G多态性检测，并于2012年6月至2014年12月进行前瞻性随访。

结果

病例组和对照组之间CD209 A>G多态性比较无统计学显著差异（p = 0.742）。此外，等位基因频率比较也无统计学显著差异（p = 0.738）。杂合基因型（AG；60.5%）和纯合基因型（GG；75%）患者的感染发生率高于野生型（AA）基因型患者（24.1%；p < 0.001）。野生型（AA）基因型患者（47%）使用羟基脲治疗的比例显著高于杂合型（AG；21%）和纯合型（GG；5%）基因型患者（p = 0.003）。