family studies and genetics Archives

Abstract Number: 673 • ACR/ARHP Annual Meeting 2018
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 • ACR/ARHP Annual Meeting 2018
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 • ACR/ARHP Annual Meeting 2018
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…

Abstracts tagged "family studies and genetics"

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

A Novel Familial RELA Truncation Is Associated with Behçet’s-like Mucocutaneous Ulceration Syndrome

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