Abstracts tagged "family studies and genetics"

Abstract Number: 673 • 2018 ACR/ARHP Annual Meeting
Chronic Back Pain (CBP) in First Degree Relatives (FDRs) of Patient with Ankylosing Spondylitis (AS): Comparison with the US Population, HLA-B27 Frequency and Persistence of Symptoms over Time
John D. Reveille¹, MinJae Lee², Laura A. Diekman³, Michael Ward⁴, Lianne S. Gensler⁵, Amirali Tahanan², Mohammad H. Rahbar⁶ and Michael Weisman⁷, ¹McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, ²Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, University of Texas-McGovern Medical School, Houston, TX, ³Rheumatology, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, ⁴National Institutes of Health, Bethesda, MD, USA, Bethesda, MD, ⁵University of California San Francisco, San Francisco, CA, ⁶Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, ⁷Harbor UCLA Medical Center, Los Angeles, CA
Background/Purpose: We examined first degree relatives (FDRs) of patients with ankylosing spondylitis (AS) patients with chronic inflammatory back pain (CIBP), non-inflammatory CBP (NICBP) and no…
Abstract Number: 918 • 2018 ACR/ARHP Annual Meeting
A Novel Familial RELA Truncation Is Associated with Behçet’s-like Mucocutaneous Ulceration Syndrome
Emma Dorris¹, Fahd Adeeb², Eoin Cummins³, Sinisa Savic⁴, Sandy Fraser⁵ and Anthony G. Wilson⁶, ¹UCD Conway Institute,, UCD Centre for Arthritis Research, Dublin 4, Ireland, ²Department of Rheumatology, University of Limerick, LIMERICK, Ireland, ³School of Medicine, Dublin 4, Ireland, ⁴Leeds Institute of Rheumatic and Musculoskeletal Medicine, The University of Leeds, Leeds, United Kingdom, ⁵Rheumatology, Croom Orthopedic Hospital, Ireland, Limerick, Ireland, ⁶UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland
Background/Purpose: Bechet’s disease (BD) is a heterogeneous multifactorial auto-inflammatory condition characterized by recurrent episodes of oral and genital ulceration, uveitis and skin lesions, with less…
Abstract Number: 1960 • 2018 ACR/ARHP Annual Meeting
Exome Sequencing Reveals Rare Recessive Mutations in Multiple Genes Including FAS, RAD51B, and ISG15 in a Single Family with Lupus and Suggests a Unique Genetic Model
Jessie Alperin¹, Khader Mustafa², Ola Hijjawi², Patrick Coit³, Kenneth Kaufman⁴ and Amr H Sawalha³, ¹University of Michigan Medical System, Ann Arbor, MI, ²Division of Rheumatology, The University of Jordan, Amman, Jordan, ³Division of Rheumatology, University of Michigan, Ann Arbor, MI, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Lupus is a complex heterogeneous disease, which can affect almost any organ system. The genetic etiology of lupus is complex, with multiple genetic susceptibility…