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

• Published in: American journal of human genetics Vol. 80; no. 6; pp. 1037 - 1054
• Main Authors: 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., Yung Yu, C.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.06.2007; University of Chicago Press; Cell Press; The American Society of Human Genetics
• Subjects: Adult; Alleles; Biological and medical sciences; Case-Control Studies; Cohort Studies; Complement C4 - genetics; Disease Susceptibility; Female; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Frequency; General aspects. Genetic counseling; Genes; Genetic research; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Genetics, Population; Genomics; Haplotypes; Health risk assessment; Humans; Lupus; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Male; Medical genetics; Medical sciences; Middle Aged; Minority & ethnic groups; Molecular and cellular biology; Polymorphism, Genetic; Reproducibility of Results; Risk Factors; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; White People - genetics; Europe; Human; Immunopathology; Connective tissue disease; High risk; Skin disease; American; Copy number; Pathogenesis; Variations; Autoimmune disease; Complement; Concentration; European; Genetic determinism; Prevention; Sensitivity; Systemic lupus erythematosus; Gene; Systemic disease; Risk factor; Predisposition; Genetics; Polymorphism

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...