作者
Evadnie Rampersaud, Guolian Kang, Lance E Palmer, Sara R Rashkin, Shuoguo Wang, Wenjian Bi, Nicole M Alberts, Doralina Anghelescu, Martha Barton, Kirby Birch, Nidal Boulos, Amanda M Brandow, Russell John Brooke, Ti-Cheng Chang, Wenan Chen, Yong Cheng, Juan Ding, John Easton, Jason R Hodges, Celeste K Kanne, Shawn Levy, Heather Mulder, Ashwin P Patel, Latika Puri, Celeste Rosencrance, Michael Rusch, Yadav Sapkota, Edgar Sioson, Akshay Sharma, Xing Tang, Andrew Thrasher, Winfred Wang, Yu Yao, Yutaka Yasui, Donald Yergeau, Jane S Hankins, Vivien A Sheehan, James R Downing, Jeremie H Estepp, Jinghui Zhang, Michael DeBaun, Gang Wu, Mitchell J Weiss
发表日期
2021/7/27
期刊
Blood Advances
卷号
5
期号
14
页码范围
2839-2851
出版商
American Society of Hematology
简介
Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or HbSβ0-thalassemia from Baylor College of Medicine and from the St. Jude Children’s Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study. We developed pipelines to identify genetic variants that modulate sickle hemoglobin polymerization in red blood cells and combined these with pain-associated variants to build a polygenic score (PGS) for acute vaso-occlusive pain (VOP). Overall, we interrogated the α-thalassemia deletion −α3.7 and 133 candidate single-nucleotide polymorphisms (SNPs) across 66 genes for associations with VOP in 327 SCCRIP participants followed longitudinally over 6 …
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E Rampersaud, G Kang, LE Palmer, SR Rashkin… - Blood Advances, 2021