Adewoye Adeboye H, Nolan Vikki G, Ma Qianli, Baldwin Clinton, Wyszynski Diego F, Farrell John J, Farrer Lindsay A, Steinberg Martin H
Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
Clin Infect Dis. 2006 Sep 1;43(5):593-8. doi: 10.1086/506356. Epub 2006 Jul 14.
Infection and bacteremia are common in sickle cell disease. We hypothesized that, consistent with evidence for the genetic modulation of other disease complications, the risk of developing bacteremia might also be genetically modulated. Accordingly, we studied the association of single nucleotide polymorphisms (SNPs) in candidate genes with the risk of bacteremia in sickle cell anemia. We found significant associations with SNPs in IGF1R and genes of the TGF-beta /BMP pathway (BMP6, TGFBR3, BMPR1A, SMAD6 and SMAD3). We suggest that both IGF1R and the TGF-beta /BMP pathway could play important roles in immune function in sickle cell anemia and their polymorphisms may help identify a "bacteremia-prone" phenotype.
感染和菌血症在镰状细胞病中很常见。我们推测，与其他疾病并发症的遗传调节证据一致，发生菌血症的风险也可能受到遗传调节。因此，我们研究了候选基因中的单核苷酸多态性（SNP）与镰状细胞贫血患者发生菌血症风险的关联。我们发现IGF1R以及TGF-β /BMP信号通路（BMP6、TGFBR3、BMPR1A、SMAD6和SMAD3）中的基因与SNP存在显著关联。我们认为，IGF1R和TGF-β /BMP信号通路在镰状细胞贫血的免疫功能中可能都发挥着重要作用，它们的多态性可能有助于识别“易发生菌血症”的表型。
