Afifi Rasha Abdel-Raouf, Kamal Dina, Sayed Riham El, Ekladious Sherif M M, Shaheen Gehan H, Yousry Sherif M, Hussein Rania Elsayed
Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.
Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.
Hematol Oncol Stem Cell Ther. 2018 Jun;11(2):75-81. doi: 10.1016/j.hemonc.2017.09.002. Epub 2017 Oct 26.
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.
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.
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).
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.
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。
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。
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）。
我们发现埃及SCD病例组和对照组在CD209 A>G多态性方面无显著差异。杂合基因型（AG）和纯合基因型（GG）患者的感染发生率更高。
