HLA haplotypes and microsatellite polymorphisms in and around the major histocompatibility complex region in a Native American population with a high prevalence of scleroderma (systemic sclerosis)

Tan, Filemon K.; Stivers, David; Arnett, Frank C.; Chakraborty, R.; Howard, Robert F.; Reveille, John D.

doi:10.1034/j.1399-0039.1999.530108.x

Cited by 33 publications

(18 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Genetic influences have been proposed to account for this increase but have not yet been definitively identified (39; for review, see ref. 40). In addition, no specific environmental factors have been recognized (39).…”

Section: Discussionmentioning

confidence: 99%

Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population

Mayes¹,

Lacey²,

Beebe‐Dimmer³

et al. 2003

Arthritis & Rheumatism

821

481

View full text Add to dashboard Cite

Objective. To estimate the prevalence, incidence, survival, and disease characteristics of systemic sclerosis (SSc) in the Detroit tricounty area.Methods. A census of SSc cases for the period 1989-1991 was conducted in the Detroit area, using multiple sources for case identification. Diagnoses were verified by medical record review. Capture-recapture analysis was used to estimate the total SSc population. Cases of localized scleroderma (morphea and linear disease) were excluded.Results. Based on 706 verified cases of SSc, prevalence was initially estimated to be 242.0 cases per million adults (95% confidence interval [95% CI] 213-274), with an annual incidence of 19.3 new cases per million adults per year (95% CI 12.4-30.2). Capturerecapture analysis, based on the degree of overlap of verified cases among multiple sources, resulted in a revised prevalence estimate of 276 cases per million adults (95% CI 245-310). Sex-and race-specific prevalence estimates were significantly higher for women than for men, and for blacks than for whites. The average age at diagnosis was significantly younger for blacks than for whites. Compared with white patients, black patients were almost twice as likely to have diffuse disease (prevalence proportion ratio 1.86, 95% CI 1.48-2.35). Median survival was ϳ11 years. Factors negatively affecting survival included male sex (hazard ratio 1.81, 95% CI 1.29-2.55) and older age at diagnosis (hazard ratio 1.04, 95% CI 1.03-1.05).Conclusion. This study establishes baseline estimates of SSc occurrence and characteristics in a large US cohort consisting primarily of black adults and white adults. These data should facilitate research regarding the role of geographic, ethnic, racial, and environmental factors for this disease in comparison populations.

show abstract

Section: Discussionmentioning

confidence: 99%

Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population

Mayes¹,

Lacey²,

Beebe‐Dimmer³

et al. 2003

Arthritis & Rheumatism

821

481

View full text Add to dashboard Cite

show abstract

“…In addition to this, white patients from the UK have an excess of HLS-DR3 (DRB1*0301) [43]. Tan et al [44] implicated an extended HLA-DR2 (DRB1*1602, DQA1*0501, DQB1*0301, DPB1*1301) haplotype in Choctaw Native Americans.…”

Section: Major Histocompatibility Complex Genesmentioning

confidence: 97%

Ethnicity and race and systemic sclerosis: How it affects susceptibility, severity, antibody genetics, and clinical manifestations

Reveille

2003

Curr Rheumatol Rep

View full text Add to dashboard Cite

Most studies have suggested that ethnic factors impact significantly on systemic sclerosis. Extensive epidemiologic studies have been carried out in white individuals, and limited data suggest that blacks are affected twice as frequently; Japanese patients have a lower prevalence than whites. This highest rate that has been described has been in Choctaw Native Americans. Blacks have a lower age at onset, as well as a higher frequency of diffuse skin involvement, pulmonary disease, and an overall worse prognosis than whites. Limited data in Hispanics and Native Americans suggest that they have more severe disease than whites. Whites have the highest frequency of anti-centromere antibodies (associated with limited skin involvement and less pulmonary fibrosis), whereas blacks have a higher frequency of anti-ribonucleoprotein and fibrillarin autoantibodies; the latter is a nucleolar antibody associated with a poorer prognosis. Ethnic differences are also seen for associations with non-major histocompatibility complex genes, such as FBN1 (fibrillin) genes, in Choctaws and Japanese and SPARC (osteonectin) in whites, Hispanics, and Choctaws. Although these facts do not entirely rule out socioeconomic factors associated with ethnicity, nevertheless ethnicity has an important impact on the pathogenesis of systemic sclerosis, perhaps because of genetic factors.

show abstract

“…Among Japanese patients with antitopoisomerase I response, there are increased frequencies of HLA-DRB1 alleles (*1502 and *0802) and DQB1 alleles (*0601 and *0301), which are in linkage disequilibrium, respectively [4]. HLA-DPB1*1301 also has been associated with antitopoisomerase I autoantibodies in several populations [20][21][22]. Various shared amino acid sequences within these disease-specific, autoantibodyassociated alleles have been proposed as crucial sites determining stereotactic and charge prerequisites that influence T-cell receptor and processed antigen binding resulting in the autoimmune response [4].…”

Section: Antitopoisomerase I Antibodiesmentioning

confidence: 99%

The genetics of systemic sclerosis

Johnson¹,

Tew²,

Arnett

2002

Curr Rheumatol Rep

View full text Add to dashboard Cite

The etiopathogenesis of systemic sclerosis (SSc) is unclear. With no definitive evidence supporting an environmental cause, recent attention has focused on genetic factors. Familial clustering and ethnic influences have been demonstrated. Human leukocyte antigen (HLA) associations exist but are more related to the presence of particular autoantibodies rather than to the disease. In addition, no single major histocompatibility complex (MHC) allele predisposes to SSc in all ethnic groups. The role of microchimerism in SSc is a novel yet unproven hypothesis that may be related to intergenerational HLA compatibility. Recent studies investigating polymorphisms in genes coding for extracellular matrix proteins and cell-signaling molecules implicate non-MHC areas in SSc pathogenesis. The data reviewed suggest that SSc is a multigenic complex disorder.

show abstract

HLA haplotypes and microsatellite polymorphisms in and around the major histocompatibility complex region in a Native American population with a high prevalence of scleroderma (systemic sclerosis)

Cited by 33 publications

References 25 publications

Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population

Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population

Ethnicity and race and systemic sclerosis: How it affects susceptibility, severity, antibody genetics, and clinical manifestations

The genetics of systemic sclerosis

Contact Info

Product

Resources

About