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Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction by Angel C Y Mak; Satria Sajuthi; Jaehyun Joo; Shujie Xiao; Patrick M Sleiman; Marquitta J White; Eunice Y Lee; Benjamin Saef; Donglei Hu; Hongsheng Gui; Kevin L Keys; Fred Lurmann; Deepti Jain; Gonçalo Abecasis; Hyun Min Kang; Deborah A Nickerson; Soren Germer; Michael C Zody; Lara Winterkorn; Catherine Reeves; Scott Huntsman; Celeste Eng; Sandra Salazar; Sam S Oh; Frank D Gilliland; Zhanghua Chen; Rajesh Kumar; Fernando D Martínez; Ann Chen Wu; Elad Ziv; Hakon Hakonarson; Blanca E Himes; L Keoki Williams; Max A Seibold; Esteban G Burchard is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Baseline lung function is a standard diagnostic criterion used by clinicians to detect lung diseases. It is a complex trait significantly influenced by both genetics and environmental factors... Baseline lung function, quantified as forced expiratory volume in the first second of exhalation (FEV1), is a standard diagnostic criterion used by clinicians to identify and classify lung diseases. Using whole-genome sequencing data from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine project, we identified a novel genetic association with FEV1 on chromosome 12 in 867 African American children with asthma (P = 1.26 × 10−8, β = 0.302). Conditional analysis within 1 Mb of the tag signal (rs73429450) yielded one major and two other weaker independent signals within this peak. We explored statistical and functional evidence for all variants in linkage disequilibrium with the three independent signals and yielded nine variants as the most likely candidates responsible for the association with FEV1. Hi-C data and expression QTL analysis demonstrated that these variants physically interacted with KITLG (KIT ligand, also known as SCF), and their minor a

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Author

Angel C Y Mak; Satria Sajuthi; Jaehyun Joo; Shujie Xiao; Patrick M Sleiman; Marquitta J White; Eunice Y Lee; Benjamin Saef; Donglei Hu; Hongsheng Gui; Kevin L Keys; Fred Lurmann; Deepti Jain; Gonçalo Abecasis; Hyun Min Kang; Deborah A Nickerson; Soren Germer; Michael C Zody; Lara Winterkorn; Catherine Reeves; Scott Huntsman; Celeste Eng; Sandra Salazar; Sam S Oh; Frank D Gilliland; Zhanghua Chen; Rajesh Kumar; Fernando D Martínez; Ann Chen Wu; Elad Ziv; Hakon Hakonarson; Blanca E Himes; L Keoki Williams; Max A Seibold; Esteban G Burchard

Publisher

The Genetics Society of America; Genetics Society of America; Oxford University Press (OUP) (ISSN 0016-6731)

Published

2020

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)