Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

doi:10.1086/518257

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Article

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

American journal of human genetics - 1 Jun 2007

Yang Yan, Chung Erwin K, Wu Yee Ling, Savelli Stephanie L, Nagaraja Haikady N, Zhou Bi, Hebert Maddie, Jones Karla N, Shu Yaoling, Kitzmiller Kathryn, Blanchong Carol A, McBride Kim L, Higgins Gloria C, Rennebohm Robert M, Rice Robert R, Hackshaw Kevin V, Roubey Robert A S, Grossman Jennifer M, Tsao Betty P, Birmingham Daniel J, Rovin Brad H, Hebert Lee A, Yu C Yung

Abstract excerpt

Interindividual gene copy-number variation (CNV) of complement component C4 and its associated polymorphisms in gene size (long and short) and protein isotypes (C4A and C4B) probably lead to different susceptibilities to autoimmune disease. We investigated the C4 gene CNV in 1,241 European Americans, including patients with systemic lupus erythematosus (SLE), their first-degree relatives, and unrelated healthy...

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PMID: 17503323
DOI: 10.1086/518257
PMCID: PMC1867093

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