Key result
BLK gene minor alleles linked to ~34% lower SLE risk in a Chinese population.
Why the study?
The association of BLK gene polymorphisms rs13277113 and rs4840568 with systemic lupus erythematosus was not extensively studied in the Chinese population.
Are polymorphisms in the BLK gene (rs13277113 and rs4840568) associated with the risk of systemic lupus erythematosus in a Chinese population?
Case-Control (n=1,108)
Are polymorphisms in the BLK gene (rs13277113 and rs4840568) associated with the risk of systemic lupus erythematosus in a Chinese population?
Odds Ratio: 0.66 (95% CI 0.54–0.81)
p-value: p=4.2E-05
Polymorphisms rs13277113 and rs4840568 in the BLK gene are associated with a reduced risk of systemic lupus erythematosus in the Chinese population.
BLK variants associated with lower SLE risk in Chinese; hypothesis-generating and requires replication before any clinical application.
Systemic lupus erythematosus (SLE) is a complex immune disease. The genetic variation in the B lymphoid tyrosine kinase (BLK) gene was found to associate with SLE in Caucasian population. However, the association of rs13277113 and rs4840568 with SLE was not extensively studied in Chinese population. In this study, we aim to test the association of SNP rs13277113 and rs4840568 with the disease risk of SLE in Chinese mainland population. A total of 532 patients with SLE and 576 controls were recruited. Unlabelled probe-based high-resolution melting analysis (HRMA) was used in genotyping. HRMA with unlabelled probe successfully distinguished all genotypes. Significant differences were observed in both genotype and allele frequencies for rs13277113 and rs4840568. Minor alleles of rs13277113 (P = 4.2E-05, odds ratio [OR] 0.66, [95% CI 0.54-0.81]) and rs4840568 (P = 7.1E-05, OR 0.67, [95% CI 0.55-0.82]) were found to be protective against SLE. Polymorphisms of rs13277113 and rs4840568 in BLK gene were associated with SLE in Chinese population.
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Chen et al. (2012) conducted a case-control in Systemic lupus erythematosus (SLE) (n=1,108). Minor alleles of rs13277113 and rs4840568 in the BLK gene vs. Controls was evaluated on Disease risk of SLE (OR 0.66, 95% CI 0.54-0.81, p=4.2E-05). Minor alleles of rs13277113 and rs4840568 in the BLK gene were protective against systemic lupus erythematosus in a Chinese population (OR 0.66, 95% CI 0.54-0.81 and OR 0.67, 95% CI 0.55-0.82).
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