The contribution of genes outside the major histocompatibility complex to susceptibility to ankylosing spondylitis.

Purpose Of Review: Recent data have presented several new nonmajor histocompatibility complex genes in predisposition to ankylosing spondylitis, which will be summarized here.

Recent Findings: A retrospective meta-analysis of three previous whole genome linkage scans confirmed a strong linkage at chromosome 16q and moderate linkage at sites on chromosomes 3, 10, and 19q, and a meta-analysis of studies of the interleukin-1 (IL-1) region genes in ankylosing spondylitis suggested the susceptibility to be conferred by the IL-1A gene. More recently, the use of genotyping chips, derived from the International Hapmap resource, which provides an extensive genomic coverage of large disease cohorts, have made it possible to conduct successful genome-wide association studies.

Occupational physical activities and long-term functional and radiographic outcomes in patients with ankylosing spondylitis.

Objective: We sought to identify specific occupational activities associated with functional limitations and radiographic damage in patients with longstanding ankylosing spondylitis (AS).

Methods: We asked patients diagnosed with AS for >or=20 years to report all past occupations, which we mapped to specific physical activities using the Occupational Information Network, which is the US Department of Labor job classification database. For each occupation reported, we obtained ratings for 13 physical abilities of the worker and 13 aspects of the work environment or work tasks (work context) thought to be most relevant to patients with AS.

2007 annual research and education meeting of the Spondyloarthritis Research and Therapy Network (SPARTAN).

The Spondyloarthritis Research and Therapy Network (SPARTAN; www.spartangroup.org) was founded in 2003 by a group of North American clinicians and researchers to promote research, education, and treatment of spondyloarthritis (SpA).

Impact of ankylosing spondylitis on work and family life: comparisons with the US population.

Objective: To examine the impact of ankylosing spondylitis (AS) on work disability, nonparticipation in the labor force, marriage, divorce, and childbearing.

Methods: In this cross-sectional survey, we asked AS patients (n = 591, 72.8% men, mean age 48.

Treatment adherence in patients with rheumatoid arthritis and systemic lupus erythematosus.

This study assessed self-reported adherence in patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) from underserved healthcare settings. We conducted a cross-sectional survey of 102 ethnically diverse patients--70 with RA and 32 with SLE--attending rheumatology clinics at publicly funded hospitals in Houston, Texas; 43% were Hispanic, 32% African-American, and 25% White. Treatment adherence was evaluated using the compliance questionnaire rheumatology (CQR; 0, low adherence and 100, high adherence) and the questionnaire of the Adult AIDS Clinical Trials Group (AACTG).

Genetic variation in the CRP promoter: association with systemic lupus erythematosus.

The pentraxin C-reactive protein (CRP), an innate immune system opsonin which binds nuclear debris and apoptotic bodies, may protect against autoimmunity. A relative deficiency of CRP levels in patients with systemic lupus erythematosus (SLE) might contribute to altered handling of self-antigens. We report that the proximal 5' promoter region of CRP contains several polymorphisms that exhibit association with SLE in multiple populations.

Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part I.

Objective: To provide a single source for the best available estimates of the US prevalence of and number of individuals affected by arthritis overall, rheumatoid arthritis, juvenile arthritis, the spondylarthritides, systemic lupus erythematosus, systemic sclerosis, and Sjögren's syndrome. A companion article (part II) addresses additional conditions.

Methods: The National Arthritis Data Workgroup reviewed published analyses from available national surveys, such as the National Health and Nutrition Examination Survey and the National Health Interview Survey (NHIS).

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.

Systemic lupus erythematosus in a multiethnic US cohort (LUMINA L II): relationship between vascular events and the use of hormone replacement therapy in postmenopausal women.

Objectives: To examine the influence of hormone replacement therapy (HRT) in the occurrence of vascular arterial and venous thrombotic events in postmenopausal women with systemic lupus erythematosus (SLE).

Patients And Methods: SLE women aged > or =16 years, disease duration < or =5 years from LUMINA, a multiethnic, longitudinal outcome study, were included. Menopause was defined at disease onset as the presence of amenorrhea >6 months and/or oophorectomy, and/or increased follicle stimulating hormone values, and/or HRT use regardless of the presence or absence of climacteric symptoms (hot flashes).

Using the Short Form 6D, as an overall measure of health, to predict damage accrual and mortality in patients with systemic lupus erythematosus: XLVII, results from a multiethnic US cohort.

Objective: To determine if overall health status as assessed by the Short Form 6D (SF-6D) index, a preference-based generic measure of health, is associated with the occurrence of damage accrual and mortality in patients with systemic lupus erythematosus (SLE).

Methods: We studied SLE patients (American College of Rheumatology criteria) from the LUpus in MInorities, NAture versus nurture cohort (LUMINA), a longitudinal multiethnic cohort. The contribution of the SF-6D as assessed at enrollment to damage accrual at the last visit and mortality was examined.

International spondyloarthritis interobserver reliability exercise--the INSPIRE study: II. Assessment of peripheral joints, enthesitis, and dactylitis.

Objective: To determine whether the assessments of peripheral joints and enthesitis were reproducible for both AS and PsA with axial disease, and whether dactylitis assessment is reproducible in patients with PsA.

Methods: A group of 20 rheumatologists from 11 countries with expertise in spondyloarthritis (SpA) met for a combined physical examination exercise to assess 10 patients with PsA with axial involvement (9 men, 1 woman, mean age 52 yrs, disease duration 17 yrs) and 9 patients with AS (7 men, 2 women, mean age 38 yrs, disease duration 16 yrs). A modified Latin-square design that enabled assessment of patient, assessor, and order effect was used.

International spondyloarthritis interobserver reliability exercise--the INSPIRE study: I. Assessment of spinal measures.

Objective: To determine whether the axial measures used in primary ankylosing spondylitis (AS) were reproducible for both AS and psoriatic arthritis (PsA) with axial disease.

Methods: A group of 20 rheumatologists from 11 countries with expertise in spondyloarthritis (SpA) met for a combined physical examination exercise to assess 10 patients with PsA with axial involvement (9 men, 1 woman, mean age 52 yrs, mean disease duration 17 yrs) and 9 AS patients (7 men, 2 women, mean age 38 yrs, mean disease duration 16 yrs). A modified Latin-square design was used.

The impact of increased body mass index on systemic lupus erythematosus: data from LUMINA, a multiethnic cohort (LUMINA XLVI) [corrected].

Objective: The aim of this study was to examine the impact of an increased body mass index (BMI) on disease activity, damage accrual, fatigue, self-reported health-related quality of life (HRQOL), and fibromyalgia in patients with lupus using longitudinal data from LUMINA, a large multiethnic cohort.

Methods: SLE patients (>/=4 ACR revised criteria), View Article and Find Full Text PDF

Clinical, immunologic, and genetic features of familial systemic sclerosis.

Objective: To examine whether the affected first-degree relatives within multicase systemic sclerosis (SSc; scleroderma) families are concordant for autoantibody profile, disease type, and HLA class II haplotypes and whether clinical expression and serologic characteristics of familial SSc differ from those of sporadic SSc.

Methods: Seven hundred ten SSc families from the Scleroderma Family Registry and DNA Repository (Scleroderma Registry) were examined, and 18 multicase families were identified. SSc cases and their first-degree family members underwent serologic testing for different autoantibodies.

A multiethnic, multicenter cohort of patients with systemic lupus erythematosus (SLE) as a model for the study of ethnic disparities in SLE.

Objective: To examine health disparities as a function of ethnicity using data from LUpus in MInorities, NAture versus nurture (LUMINA), a longitudinal study of patients with systemic lupus erythematosus (SLE); to build an explanatory model of how ethnic disparities occur in this setting; and to suggest appropriate interventions.

Methods: LUMINA patients (meeting American College of Rheumatology criteria for SLE) ages >/=16 years of African American, Hispanic (from Texas), Hispanic (from Puerto Rico), or Caucasian ethnicity were studied. In addition to examining the basic features of the cohort, we examined, by univariable and multivariable analyses, the factors associated with disease activity, damage accrual, lupus nephritis, and mortality.

Effect of hydroxychloroquine on the survival of patients with systemic lupus erythematosus: data from LUMINA, a multiethnic US cohort (LUMINA L).

Objective: In patients with systemic lupus erythematosus (SLE), hydroxychloroquine prevents disease flares and damage accrual and facilitates the response to mycophenolate mofetil in those with renal involvement. A study was undertaken to determine whether hydroxychloroquine also exerts a protective effect on survival.

Methods: Patients with SLE from the multiethnic LUMINA (LUpus in MInorities: NAture vs nurture) cohort were studied.

Pulmonary involvement in systemic sclerosis: associations with genetic, serologic, sociodemographic, and behavioral factors.

Objective: To determine the relative contributions of genetic, clinical, serologic, sociodemographic, and behavioral/psychological variables to early pulmonary involvement in the Genetics versus Environment in Scleroderma Outcome Study cohort.

Methods: At the baseline visit (V0), 203 patients with systemic sclerosis (SSc) were examined (104 whites, 39 African Americans, and 60 Hispanics). We obtained sociodemographic, behavioral/psychological (illness behavior, social support, learned helplessness, smoking, drinking), clinical, serologic (autoantibodies), and genetic (HLA class II and FBN1 genotypes) factors; pulmonary function test results; electrocardiograms; and chest radiographs.

Accelerated damage accrual among men with systemic lupus erythematosus: XLIV. Results from a multiethnic US cohort.

Objective: To determine the impact of the patient's sex on the manifestations and outcome of systemic lupus erythematosus (SLE).

Methods: We studied SLE patients who were ages 16 years or older and had a disease duration of < or =5 years at the time of enrollment in the LUpus in MInorities, NAture versus nurture cohort, a multiethnic cohort consisting of Hispanic, African American, and Caucasian patients. Socioeconomic/demographic, clinical, and serologic features, as well as disease activity (by the Systemic Lupus Activity Measure, Revised) and damage accrual (by the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index) were compared between male and female patient groups.

Systemic lupus erythematosus in a multiethnic US cohort: XLIII. The significance of thrombocytopenia as a prognostic factor.

Objective: To examine the clinical correlates of thrombocytopenia and the value of thrombocytopenia as a predictor of disease activity, damage accrual, and mortality in patients with systemic lupus erythematosus (SLE).

Methods: SLE patients participating in a longitudinal multiethnic cohort were studied. Thrombocytopenia was defined as a platelet count <100,000/mm(3) at or before enrollment (baseline).

Association of a TNAP haplotype with ankylosing spondylitis.

Objective: To use a candidate gene approach to the identification of genetic markers that are significantly associated with ankylosing spondylitis (AS).

Methods: We genotyped 201 multiplex AS families with 1 exonic and 5 intronic single-nucleotide polymorphisms (SNPs) in TNAP, the gene that encodes tissue-nonspecific alkaline phosphatase, and performed family-based association analyses.

Results: In our cohort of 201 multiplex AS families, the TNAP haplotype rs3767155 (G)/rs3738099 (G)/rs1780329 (T) was significantly associated with AS (P = 0.

Are there gender differences in severity of ankylosing spondylitis? Results from the PSOAS cohort.

Objective: To examine the clinical and radiographic features in men and women in the Prospective Study of Outcomes in Ankylosing Spondylitis cohort, a large well-defined cross-sectional study of patients with AS, in order to understand the influence of gender in determining the severity of ankylosing spondylitis.

Methods: Extensive clinical assessments and spine radiographs were performed in 302 men and 100 women with AS of > or = 20 years duration. Radiographs were scored using the Bath Ankylosing Spondylitis Radiographic Index Spine (BASRI-spine) score (range 2-12).