Evaluation of C1q genomic region in minority racial groups of lupus

B. Namjou; C. Gray-McGuire; A. L. Sestak; G. S. Gilkeson; C. O. Jacob; J. T. Merrill; J. A. James; E. K. Wakeland; Q. Z. Li; C. D. Langefeld; J. Divers; J. Ziegler; K. L. Moser; J. A. Kelly; K. M. Kaufman; J. B. Harley

doi:10.1038/gene.2009.33

Evaluation of C1q genomic region in minority racial groups of lupus

B. Namjou, C. Gray-McGuire, A. L. Sestak, G. S. Gilkeson, C. O. Jacob, J. T. Merrill, J. A. James, E. K. Wakeland, Q. Z. Li, C. D. Langefeld, J. Divers, J. Ziegler, K. L. Moser, J. A. Kelly, K. M. Kaufman, J. B. Harley

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37 Scopus citations

Abstract

Complement cascade plasma proteins play a complex role in the etiopathogenesis of systemic lupus erythematosus (SLE). Hereditary C1q deficiency has been strongly related to SLE; however, there are very few published SLE studies that evaluate the polymorphisms of genes encoding for C1q (A, B and C). In this study, we evaluated 17 single nucleotide polymorphisms (SNPs) across 37 kb of C1QA, C1QB and C1QC in a lupus cohort of individuals of the African-American and Hispanic origin. In a case-only analysis, a significant association at multiple SNPs in the C1QA gene was detected in African Americans with kidney nephritis (best P = 4.91 × 10^-6). In addition, C1QA was associated with SLE in African Americans with a lack of nephritis and accompanying photosensitivity when compared with that in normal controls (P = 6.80 × 10^-6). A similar trend was observed in the Hispanic subjects (P = 0.003). Quantitative analysis showed that some SNPs in C1q genes might be correlated with C3 complement levels in an additive model among African Americans (best P = 0.0001). The C1QA gene is associated with subphenotypes of lupus in the African-American and Hispanic subjects. Further studies with higher SNP densities in this region and other complement components are necessary to elucidate the complex genetics and phenotypic interactions between complement components and SLE.

Original language	English (US)
Pages (from-to)	517-524
Number of pages	8
Journal	Genes and Immunity
Volume	10
Issue number	5
DOIs	https://doi.org/10.1038/gene.2009.33
State	Published - 2009

ASJC Scopus subject areas

Immunology
Genetics
Genetics(clinical)

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Namjou, B., Gray-McGuire, C., Sestak, A. L., Gilkeson, G. S., Jacob, C. O., Merrill, J. T., James, J. A., Wakeland, E. K., Li, Q. Z., Langefeld, C. D., Divers, J., Ziegler, J., Moser, K. L., Kelly, J. A., Kaufman, K. M., & Harley, J. B. (2009). Evaluation of C1q genomic region in minority racial groups of lupus. Genes and Immunity, 10(5), 517-524. https://doi.org/10.1038/gene.2009.33

@article{7b46ba9dbb264fb1a8edcf2a02e9c4bb,

title = "Evaluation of C1q genomic region in minority racial groups of lupus",

abstract = "Complement cascade plasma proteins play a complex role in the etiopathogenesis of systemic lupus erythematosus (SLE). Hereditary C1q deficiency has been strongly related to SLE; however, there are very few published SLE studies that evaluate the polymorphisms of genes encoding for C1q (A, B and C). In this study, we evaluated 17 single nucleotide polymorphisms (SNPs) across 37 kb of C1QA, C1QB and C1QC in a lupus cohort of individuals of the African-American and Hispanic origin. In a case-only analysis, a significant association at multiple SNPs in the C1QA gene was detected in African Americans with kidney nephritis (best P = 4.91 × 10-6). In addition, C1QA was associated with SLE in African Americans with a lack of nephritis and accompanying photosensitivity when compared with that in normal controls (P = 6.80 × 10-6). A similar trend was observed in the Hispanic subjects (P = 0.003). Quantitative analysis showed that some SNPs in C1q genes might be correlated with C3 complement levels in an additive model among African Americans (best P = 0.0001). The C1QA gene is associated with subphenotypes of lupus in the African-American and Hispanic subjects. Further studies with higher SNP densities in this region and other complement components are necessary to elucidate the complex genetics and phenotypic interactions between complement components and SLE.",

author = "B. Namjou and C. Gray-McGuire and Sestak, {A. L.} and Gilkeson, {G. S.} and Jacob, {C. O.} and Merrill, {J. T.} and James, {J. A.} and Wakeland, {E. K.} and Li, {Q. Z.} and Langefeld, {C. D.} and J. Divers and J. Ziegler and Moser, {K. L.} and Kelly, {J. A.} and Kaufman, {K. M.} and Harley, {J. B.}",

note = "Funding Information: This work was supported by the NIH (AR42460, RR015577, AI31584, AR12253, AR48940, DE015223, AR053483, RR020143, AI062629, AI24717, AR62277 and AI50026, the Mary Kirkland Scholarship, the Alliance for Lupus Research and the US Department of Veterans Affairs. We thank the participants, who agreed to take part in this study by donating samples to the various collections, in particular the Lupus Family Registry and Repository (LFRR: http://lupus.omrf.org).",

year = "2009",

doi = "10.1038/gene.2009.33",

language = "English (US)",

volume = "10",

pages = "517--524",

journal = "Genes and Immunity",

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T1 - Evaluation of C1q genomic region in minority racial groups of lupus

AU - Namjou, B.

AU - Gray-McGuire, C.

AU - Sestak, A. L.

AU - Gilkeson, G. S.

AU - Jacob, C. O.

AU - Merrill, J. T.

AU - James, J. A.

AU - Wakeland, E. K.

AU - Li, Q. Z.

AU - Langefeld, C. D.

AU - Divers, J.

AU - Ziegler, J.

AU - Moser, K. L.

AU - Kelly, J. A.

AU - Kaufman, K. M.

AU - Harley, J. B.

N1 - Funding Information: This work was supported by the NIH (AR42460, RR015577, AI31584, AR12253, AR48940, DE015223, AR053483, RR020143, AI062629, AI24717, AR62277 and AI50026, the Mary Kirkland Scholarship, the Alliance for Lupus Research and the US Department of Veterans Affairs. We thank the participants, who agreed to take part in this study by donating samples to the various collections, in particular the Lupus Family Registry and Repository (LFRR: http://lupus.omrf.org).

PY - 2009

Y1 - 2009

N2 - Complement cascade plasma proteins play a complex role in the etiopathogenesis of systemic lupus erythematosus (SLE). Hereditary C1q deficiency has been strongly related to SLE; however, there are very few published SLE studies that evaluate the polymorphisms of genes encoding for C1q (A, B and C). In this study, we evaluated 17 single nucleotide polymorphisms (SNPs) across 37 kb of C1QA, C1QB and C1QC in a lupus cohort of individuals of the African-American and Hispanic origin. In a case-only analysis, a significant association at multiple SNPs in the C1QA gene was detected in African Americans with kidney nephritis (best P = 4.91 × 10-6). In addition, C1QA was associated with SLE in African Americans with a lack of nephritis and accompanying photosensitivity when compared with that in normal controls (P = 6.80 × 10-6). A similar trend was observed in the Hispanic subjects (P = 0.003). Quantitative analysis showed that some SNPs in C1q genes might be correlated with C3 complement levels in an additive model among African Americans (best P = 0.0001). The C1QA gene is associated with subphenotypes of lupus in the African-American and Hispanic subjects. Further studies with higher SNP densities in this region and other complement components are necessary to elucidate the complex genetics and phenotypic interactions between complement components and SLE.

AB - Complement cascade plasma proteins play a complex role in the etiopathogenesis of systemic lupus erythematosus (SLE). Hereditary C1q deficiency has been strongly related to SLE; however, there are very few published SLE studies that evaluate the polymorphisms of genes encoding for C1q (A, B and C). In this study, we evaluated 17 single nucleotide polymorphisms (SNPs) across 37 kb of C1QA, C1QB and C1QC in a lupus cohort of individuals of the African-American and Hispanic origin. In a case-only analysis, a significant association at multiple SNPs in the C1QA gene was detected in African Americans with kidney nephritis (best P = 4.91 × 10-6). In addition, C1QA was associated with SLE in African Americans with a lack of nephritis and accompanying photosensitivity when compared with that in normal controls (P = 6.80 × 10-6). A similar trend was observed in the Hispanic subjects (P = 0.003). Quantitative analysis showed that some SNPs in C1q genes might be correlated with C3 complement levels in an additive model among African Americans (best P = 0.0001). The C1QA gene is associated with subphenotypes of lupus in the African-American and Hispanic subjects. Further studies with higher SNP densities in this region and other complement components are necessary to elucidate the complex genetics and phenotypic interactions between complement components and SLE.

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Evaluation of C1q genomic region in minority racial groups of lupus

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