학술논문
Single-nucleotide polymorphisms of MAMDC1 are associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese mainland population.
Document Type
Article
Author
Source
Subject
*GENETIC polymorphisms
*NUCLEOTIDES
*PHOTOSENSITIVITY disorders
*SYSTEMIC lupus erythematosus
*IMMUNOLOGIC diseases
*CONFIDENCE intervals
*RHEUMATOLOGY
*DISEASE risk factors
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Language
ISSN
0770-3198
Abstract
Systemic lupus erythematosus (SLE) is a complex immune disease affected by both genetic dispositions and environmental factors. Recently, the polymorphisms in MAMDC1 gene have been reported to associate with disease risk of SLE in European population. However, whether this association is replicated in Chinese population is unknown yet. A total of 491 SLE patients and 533 controls were recruited. Unlabeled probe-based high-resolution melting analysis (HRMA) was used in genotyping. HRMA with unlabeled probe successfully distinguished all genotypes. SNP rs961616 was associated with rash [ P = 0.015, odds ratio (OR) = 0.73, 95% confidence interval (CI) = 0.57-0.94] and photosensitivity ( P = 0.001, OR = 0.63, 95%CI = 0.48-0.84), but not the disease risk ( P = 0.133, OR = 0.88, 95%CI = 0.74-1.04), of SLE in Chinese population. Polymorphisms of rs961616 in MAMDC1 gene were associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese population. [ABSTRACT FROM AUTHOR]