Article
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Oct 2018
Gourh Pravitt, Remmers Elaine F, Boyden Steven E, Alexander Theresa, Morgan Nadia D, Shah Ami A, Mayes Maureen D, Doumatey Ayo, Bentley Amy R, Shriner Daniel, Domsic Robyn T, Medsger Thomas A, Steen Virginia D, Ramos Paula S, Silver Richard M, Korman Benjamin, Varga John, Schiopu Elena, Khanna Dinesh, Hsu Vivien, Gordon Jessica K, Saketkoo Lesley Ann, Gladue Heather, Kron Brynn, Criswell Lindsey A, Derk Chris T, Bridges S Louis, Shanmugam Victoria K, Kolstad Kathleen D, Chung Lorinda, Jan Reem, Bernstein Elana J, Goldberg Avram, Trojanowski Marcin, Kafaja Suzanne, Maksimowicz-McKinnon Kathleen M, Mullikin James C, Adeyemo Adebowale, Rotimi Charles, Boin Francesco, Kastner Daniel L, Wigley Fredrick M
Abstract excerpt
OBJECTIVE: Whole-exome sequencing (WES) studies in systemic sclerosis (SSc) patients of European American (EA) ancestry have identified variants in the ATP8B4 gene and enrichment of variants in genes in the extracellular matrix (ECM)-related pathway that increase SSc susceptibility. This study was undertaken to evaluate the association of the ATP8B4 gene and the ECM-related pathway with SSc in a cohort of African...
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