Effects of Complement C4 Gene Copy Number Variations, Size Dichotomy, and C4A Deficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian Populations

• Published in: Arthritis & rheumatology (Hoboken, N.J.) Vol. 68; no. 6; pp. 1442 - 1453
• Main Authors: Yih Chen, Ji, Ling Wu, Yee, Yin Mok, Mo, Jan Wu, Yeong‐Jian, Lintner, Katherine E., Wang, Chin‐Man, Chung, Erwin K., Yang, Yan, Zhou, Bi, Wang, Huanyu, Yu, Denise J. H. C., Alhomosh, Alaaedin, Jones, Karla, Spencer, Charles H., Nagaraja, Haikady N., Lung Lau, Yu, Lau, Chak‐Sing, Yung Yu, C.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.06.2016
• Subjects: Adult; Asian People; Complement C4a - deficiency; Complement C4a - genetics; Complement C4b - genetics; DNA Copy Number Variations; Female; Hereditary Complement Deficiency Diseases; Humans; Immunologic Deficiency Syndromes - genetics; Lupus Erythematosus, Systemic - diagnosis; Lupus Erythematosus, Systemic - epidemiology; Lupus Erythematosus, Systemic - genetics; Male; Risk Assessment; Risk Factors; White People

Objective Human complement C4 is complex, with multiple layers of diversity. The aims of this study were to elucidate the copy number variations (CNVs) of C4A and C4B in relation to disease risk in systemic lupus erythematosus (SLE), and to compare the basis of race‐specific C4A deficiency between E...