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.

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Published in Am J Hum Genet on April 26, 2007

Authors

Yan Yang1, Erwin K Chung, Yee Ling Wu, Stephanie L Savelli, Haikady N Nagaraja, Bi Zhou, Maddie Hebert, Karla N Jones, Yaoling Shu, Kathryn Kitzmiller, Carol A Blanchong, Kim L McBride, Gloria C Higgins, Robert M Rennebohm, Robert R Rice, Kevin V Hackshaw, Robert A S Roubey, Jennifer M Grossman, Betty P Tsao, Daniel J Birmingham, Brad H Rovin, Lee A Hebert, C Yung Yu

Author Affiliations

1: Center for Molecular and Human Genetics, Columbus Children's Research Institute, Columbus, OH 43205, USA.

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Human genome: patchwork people. Nature (2005) 1.12

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The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene. J Immunol (1991) 1.06

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The origin of the very variable haemolytic activities of the common human complement component C4 allotypes including C4-A6. EMBO J (1985) 1.03

Reference typing report for complement component C4. Exp Clin Immunogenet (1998) 1.01

Complement testing in the diagnosis of immune and autoimmune diseases. Am J Clin Pathol (1977) 0.98

Lupus erythematosus syndrome and complete deficiency of the fourth component of complement. Boll Ist Sieroter Milan (1974) 0.96

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Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23. Arthritis Rheum (2004) 1.27

Pulmonary manifestations of the antiphospholipid antibody syndrome. Clin Chest Med (2010) 1.26

A dinucleotide deletion in CD24 confers protection against autoimmune diseases. PLoS Genet (2007) 1.25

Lupus nephritis: induction therapy in severe lupus nephritis--should MMF be considered the drug of choice? Clin J Am Soc Nephrol (2012) 1.25

Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index. J Immunol (2003) 1.24