Comparison of sarcoidosis phenotypes among affected African-American siblings

Marc A. Judson, Kathryn Hirst, Sudha K. Iyengar, Benjamin A. Rybicki, Laure El Ghormli, Robert P. Baughman, James F. Donohue, Robert C. Elston, Mani S. Kavuru, David Moller, Lee S. Newman, David L. Rabin, Milton D. Rossman, Alvin S. Teirstein, Michael C. Iannuzzi

Research output: Contribution to journalArticle

Abstract

Study objective: To test the hypothesis that sibling pairs, who share genes and environmental exposures, might have similar phenotypic expressions of sarcoidosis beyond what would be expected by chance alone. Design: Multicenter family study with study subjects recruited from 11 clinical centers. Subjects: Subjects were African-American sibling pairs with sarcoidosis. Sarcoidosis and organ pattern involvement were defined according to specific criteria. Fifteen different organ systems were evaluated. Results: For full-sibling pairs, ocular involvement was found in both siblings more often than expected by chance alone (p <0.05), but the concordance was weak (κ = 0.18). When analyzing full-sibling and half-sibling pairs, ocular and liver involvement showed a significant concordance between sibling pairs (p <0.05), but again the agreement was poor (κ = 0.16 for both). Concordance in pulmonary function change over time was also weak. Clinical outcomes of sibling pairs were not significantly correlated except for whether treatment was prescribed, and this level of agreement was poor (κ = 0.14 for full-sibling and half-sibling pairs; κ = 0.15 for full-sibling pairs only). Modeling phenotypic expression in sibling pairs using logistic regression did show that the presence of ocular and liver sarcoidosis in the first affected sibling conferred a statistically significant increased risk to the second affected sibling for having those organs involved (odds ratio [OR], 3; 95% confidence interval [CI], 1.7 to 5.4 for ocular; OR, 3.3; 95% CI, 1.5 to 7.4 for liver). Conclusions: The phenotypic features and clinical outcomes of sarcoidosis in sibling pairs show minimal concordance, with the possible exception that the presence of ocular or liver involvement in the first sibling with a diagnosis of sarcoidosis makes involvement of these organs more likely in other affected siblings.

Original languageEnglish (US)
Pages (from-to)855-862
Number of pages8
JournalChest
Volume130
Issue number3
DOIs
StatePublished - Sep 2006

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Sarcoidosis
African Americans
Siblings
Phenotype
Liver
Odds Ratio
Confidence Intervals
Environmental Exposure
Multicenter Studies

Keywords

  • Genetics
  • Phenotype
  • Sarcoidosis
  • Sibling

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Judson, M. A., Hirst, K., Iyengar, S. K., Rybicki, B. A., El Ghormli, L., Baughman, R. P., ... Iannuzzi, M. C. (2006). Comparison of sarcoidosis phenotypes among affected African-American siblings. Chest, 130(3), 855-862. https://doi.org/10.1378/chest.130.3.855

Comparison of sarcoidosis phenotypes among affected African-American siblings. / Judson, Marc A.; Hirst, Kathryn; Iyengar, Sudha K.; Rybicki, Benjamin A.; El Ghormli, Laure; Baughman, Robert P.; Donohue, James F.; Elston, Robert C.; Kavuru, Mani S.; Moller, David; Newman, Lee S.; Rabin, David L.; Rossman, Milton D.; Teirstein, Alvin S.; Iannuzzi, Michael C.

In: Chest, Vol. 130, No. 3, 09.2006, p. 855-862.

Research output: Contribution to journalArticle

Judson, MA, Hirst, K, Iyengar, SK, Rybicki, BA, El Ghormli, L, Baughman, RP, Donohue, JF, Elston, RC, Kavuru, MS, Moller, D, Newman, LS, Rabin, DL, Rossman, MD, Teirstein, AS & Iannuzzi, MC 2006, 'Comparison of sarcoidosis phenotypes among affected African-American siblings', Chest, vol. 130, no. 3, pp. 855-862. https://doi.org/10.1378/chest.130.3.855
Judson MA, Hirst K, Iyengar SK, Rybicki BA, El Ghormli L, Baughman RP et al. Comparison of sarcoidosis phenotypes among affected African-American siblings. Chest. 2006 Sep;130(3):855-862. https://doi.org/10.1378/chest.130.3.855
Judson, Marc A. ; Hirst, Kathryn ; Iyengar, Sudha K. ; Rybicki, Benjamin A. ; El Ghormli, Laure ; Baughman, Robert P. ; Donohue, James F. ; Elston, Robert C. ; Kavuru, Mani S. ; Moller, David ; Newman, Lee S. ; Rabin, David L. ; Rossman, Milton D. ; Teirstein, Alvin S. ; Iannuzzi, Michael C. / Comparison of sarcoidosis phenotypes among affected African-American siblings. In: Chest. 2006 ; Vol. 130, No. 3. pp. 855-862.
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abstract = "Study objective: To test the hypothesis that sibling pairs, who share genes and environmental exposures, might have similar phenotypic expressions of sarcoidosis beyond what would be expected by chance alone. Design: Multicenter family study with study subjects recruited from 11 clinical centers. Subjects: Subjects were African-American sibling pairs with sarcoidosis. Sarcoidosis and organ pattern involvement were defined according to specific criteria. Fifteen different organ systems were evaluated. Results: For full-sibling pairs, ocular involvement was found in both siblings more often than expected by chance alone (p <0.05), but the concordance was weak (κ = 0.18). When analyzing full-sibling and half-sibling pairs, ocular and liver involvement showed a significant concordance between sibling pairs (p <0.05), but again the agreement was poor (κ = 0.16 for both). Concordance in pulmonary function change over time was also weak. Clinical outcomes of sibling pairs were not significantly correlated except for whether treatment was prescribed, and this level of agreement was poor (κ = 0.14 for full-sibling and half-sibling pairs; κ = 0.15 for full-sibling pairs only). Modeling phenotypic expression in sibling pairs using logistic regression did show that the presence of ocular and liver sarcoidosis in the first affected sibling conferred a statistically significant increased risk to the second affected sibling for having those organs involved (odds ratio [OR], 3; 95{\%} confidence interval [CI], 1.7 to 5.4 for ocular; OR, 3.3; 95{\%} CI, 1.5 to 7.4 for liver). Conclusions: The phenotypic features and clinical outcomes of sarcoidosis in sibling pairs show minimal concordance, with the possible exception that the presence of ocular or liver involvement in the first sibling with a diagnosis of sarcoidosis makes involvement of these organs more likely in other affected siblings.",
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AU - Judson, Marc A.

AU - Hirst, Kathryn

AU - Iyengar, Sudha K.

AU - Rybicki, Benjamin A.

AU - El Ghormli, Laure

AU - Baughman, Robert P.

AU - Donohue, James F.

AU - Elston, Robert C.

AU - Kavuru, Mani S.

AU - Moller, David

AU - Newman, Lee S.

AU - Rabin, David L.

AU - Rossman, Milton D.

AU - Teirstein, Alvin S.

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KW - Genetics

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KW - Sarcoidosis

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