Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.
Pravitt GourhElaine F RemmersSteven E BoydenTheresa AlexanderNadia D MorganChristopher A MecoliMaureen D MayesAyo DoumateyAmy R BentleyDaniel ShrinerRobyn T DomsicThomas A MedsgerVirginia D SteenPaula S RamosRichard M SilverBenjamin KormanJohn VargaElena SchiopuDinesh KhannaVivien HsuJessica K GordonLesley Ann SaketkooHeather GladueBrynn KronLindsey A CriswellChris T DerkS Louis BridgesVictoria K ShanmugamKathleen D KolstadLorinda ChungReem JanElana J BernsteinAvram GoldbergMarcin TrojanowskiSuzanne KafajaKathleen M Maksimowicz-McKinnonJames C MullikinAdebowale AdeyemoCharles RotimiFrancesco BoinDaniel L KastnerFredrick M WigleyPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2018)
In the largest genetic study in AA patients with SSc to date, our findings corroborate the role of functional variants that aggregate in a fibrotic pathway and increase SSc susceptibility.