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Genetic association of complement component 2 polymorphism with systemic lupus erythematosus.

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Genetic association of complement component 2 polymorphism with systemic lupus erythematosus.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Chen, H-H Tsai, L-J Lee, K-R Chen, Y-M Hung, W-T Chen, D-Y
Description	Country affiliation: Taiwan Author Affiliation: Chen HH ( Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan.); Tsai LJ ( Graduate Institute of Clinical Medicine, Taipei Medical University, Taipei, Taiwan.); Lee KR ( Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan.); Chen YM ( Division of Allergy, Immunology and Rheumatology, Taichung Veterans General Hospital, Taichung, Taiwan.); Hung WT ( Institute of Microbiology and Immunology, Chung Shan Medical University, Taichung, Taiwan.); Chen DY ( Institute of Biomedical Science, National Chung Hsing University, Taichung, Taiwan.)
Abstract	Complement component 2 (C2), an early member of the classical pathway, mainly participates in apoptotic cell clearance. We hypothesize that C2 polymorphism may confer genetic susceptibility to complement dysfunction in systemic lupus erythematosus (SLE). The major aim of our study was to investigate the clinical and serological associations of C2 variants in Chinese patients with SLE. The single-nucleotide polymorphism (rs2844455, G/A SNP) located in the intron region of C2 gene was genotyped by direct sequencing in 95 SLE patients and 95 matched normal control subjects. The gene expression profiles were generated by quantitative real-time polymerase chain reaction (PCR) and reverse transcription PCR. Our results showed that the AA genotype was observed more frequently in SLE patients than in normal control subjects (22.1% vs 9.5%, P < 0.05). The A allele was strongly associated with the occurrence of hair loss, photosensitivity and anti-cardiolipin antibodies; whereas, the G allele was associated with lower frequencies of these clinical presentations. Relative expression levels were significantly lower in patients with the AA genotype [median: 18.86, interquartile range (IQR) 11.36-22.43, P = 0.002] than in those with the GG genotype (35.76, IQR: 19.33-49.71). As expected, we confirmed the A allele as a risk factor for SLE development in a Chinese population, in contrast, the G allele might be a protective factor against the pathogenic autoantibody formation and cutaneous manifestations in SLE patients.
File Format	HTM / HTML
ISSN	20592302
Issue Number	2
Volume Number	86
e-ISSN	20592310
Journal	Tissue Antigens
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2015-08-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Genetics Discipline Immunology Alopecia Genetics Complement C2 Lupus Erythematosus, Systemic Photophobia Polymorphism, Single Nucleotide Adult Alleles Ethnology Immunology Pathology Antibodies, Anticardiolipin Blood Asian Continental Ancestry Group Case-control Studies Exons Female Gene Expression Gene Expression Profiling Gene Frequency Genetic Association Studies Genetic Predisposition To Disease Genotype Humans Introns Male Middle Aged Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Immunology and Allergy Immunology

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