作者
Andrew M Heitzer, Jennifer Longoria, Evadnie Rampersaud, Sara R Rashkin, Jeremie H Estepp, Victoria I Okhomina, Winfred C Wang, Darcy Raches, Brian Potter, Martin H Steinberg, Allison A King, Guolian Kang, Jane S Hankins
发表日期
2022/7/1
期刊
Current Research in Translational Medicine
卷号
70
期号
3
页码范围
103335
出版商
Elsevier Masson
简介
Purpose of the study
Fetal hemoglobin (HbF) is a modifier of the clinical and hematologic phenotype of sickle cell anemia (SCA). Three quantitative trait loci (QTL) modulate HbF expression. The neurocognitive effects of variants in these QTL have yet to be explored. We evaluated the relation between 11 SNPs in the three HbF QTL: BCL11A, MYB, the HBB gene cluster, and full-scale intelligence (IQ) in SCA.
Patients and methods
The prospective longitudinal cohort study, Sickle Cell Clinical Research and Intervention Program, was used as a discovery cohort (n = 166). The genotypes for 11 SNPs were extracted through whole genome sequencing and were analyzed using an additive model. A polygenic score for HbF (PGSHbF) integrating the numbers of low HbF alleles from 11 SNPs was analyzed as a continuous variable. The Cooperative Study of Sickle Cell Disease (n = 156) and the Silent Cerebral Infarction …
学术搜索中的文章
AM Heitzer, J Longoria, E Rampersaud, SR Rashkin… - Current research in translational medicine, 2022