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Member Research & Reports

Member Research & Reports

UAB Evaluates Variants and Whole-exome Sequencing in the Literature

In an editorial titled “A Novel Genetic Association with Systemic Sclerosis: The Utility of Whole Exome Sequencing in Autoimmune Disease,” in the October issue of the journal Arthritis & Rheumatology, Dr. Stella Aslibekyan, assistant professor in the department of epidemiology at the University of Alabama at Birmingham — in collaboration with UAB colleagues Dr. Donna K. Arnett, professor and chair in the department of epidemiology; Mr. Vincent A. Laufer, MD/PhD student in the Medical Scientist Training Program (MSTP); and Dr. S. Louis Bridges, Jr., director of the division of clinical immunology and rheumatology — discusses the role of rare variants in an individual’s susceptibility to autoimmune disease and that disorder’s consequent progression.

AslibekyanS_UAB ASPPH
[Photo: Dr. Stella Aslibekyan]

Citing an August 2013 Arthritis & Rheumatology editorial by Drs. Yukinori Okada and Robert M. Plenge that predicted research being on the cusp of “the age of whole-exome sequencing in rheumatic diseases,” in addition to such ensuing literature in the field as “Whole-Exome Sequencing Identifies Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis” (Dr. Li Gao, et al), the UAB investigators note the subsequent proven potential of using whole-exome sequencing (WES) to identify such traits, while acknowledging that the method has its limitations. They specifically address WES’s effectiveness in studying systemic sclerosis, which can result in pulmonary arterial hypertension (PAH), and stress the method’s favorable capacity for predicting such susceptibilities in this as well as other conditions.

In conclusion, Dr. Aslibekyan and colleagues point out that African Americans have a higher risk of experiencing acute PAH along with a lower chance of survival. As previous studies have concentrated on individuals of European descent, they recommend continued investigation in to the role of genetics that places an emphasis on ethnic and racial influences.

Editorial article: