Single-nucleotide polymorphisms in the PLA2R1 gene are associated with systemic lupus erythematosus and lupus nephritis in a Chinese Han population

Objective.To determine the association of systemic lupus erythematosus (SLE) with single-nucleotide polymorphisms (SNP) in the TNIP1 gene and compare the expression of this gene in cases and controls from a Chinese Han population in this replication study.Methods.Matrix-assisted laser desorption ionization time-of-flight mass spectrometry was used to genotype 19 SNP in TNIP1 in Chinese Han patients with SLE (n = 341) and controls (n = 356). Genotypes were analyzed by codominant, dominant, and recessive models. Analysis of allele frequencies and linkage disequilibrium was also performed. Western blotting and qRT-PCR were used to measure the expression of these genes in peripheral blood mononuclear cells of SLE cases and controls.Results.Seven SNP loci were significantly associated with SLE in our population (p < 0.05 for all comparisons). Two TNIP1 gene haplotypes (ATTGCGC and GTCCTAT) were associated with SLE (p = 0.0246 and p = 0.0024, respectively). Western blotting and qRT-PCR results provide evidence that patients with SLE had significantly reduced expression of TNIP1/ABIN-1 relative to controls.Conclusion.Analysis of SNP in the TNIP1 gene and expression of this gene in peripheral blood lymphocytes indicated these SNP were associated with the occurrence of SLE in Han Chinese patients. Future studies should examine the roles of these SNP in the pathogenesis of SLE.

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Sex-specific differences in the relationship between the single-nucleotide polymorphism rs2298804 ofFCER1Aand the susceptibility to systemic lupus erythematosus in a Chinese Han population

Clinical and Experimental Dermatology ◽

10.1111/ced.12035 ◽

2013 ◽

Vol 38 (4) ◽

pp. 410-416 ◽

Cited By ~ 4

Author(s):

J. Yang ◽

M.-M. Lu ◽

Y.-W. Lu ◽

C.-C. Feng ◽

R.-X. Leng ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Single Nucleotide Polymorphism ◽

Lupus Erythematosus ◽

Chinese Han Population ◽

Nucleotide Polymorphism ◽

Systemic Lupus ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

The Relationship

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Association Analysis of Polymorphisms in Lumican Gene and Systemic Lupus Erythematosus in a Taiwan Chinese Han Population

The Journal of Rheumatology ◽

10.3899/jrheum.101310 ◽

2011 ◽

Vol 38 (11) ◽

pp. 2376-2381 ◽

Cited By ~ 1

Author(s):

PEI-CHUN CHANG ◽

YI CHEN ◽

MING-TSONG LAI ◽

HENG-YUAN CHANG ◽

CHUNG-MING HUANG ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Clinical Symptoms ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Systemic Lupus ◽

Chinese Han ◽

Han Population ◽

Taiwan Chinese ◽

Chi Square Analysis

Objective.Lumican (LUM) is predominantly localized in areas of pathological fibrosis. To determine whether polymorphisms in LUM gene are associated with development of systemic lupus erythematosus (SLE), we analyzed 2 single-nucleotide polymorphisms (SNP) of LUM in a Taiwan Chinese Han population.Methods.Participants included 168 patients with SLE and 192 age-matched controls in whom examinations had excluded SLE. Genotyping of –628 A/–(rs17018757) and c.1567 T/C polymorphisms in LUM were carried out in each patient and control using the polymerase chain reaction-restriction fragment-length polymorphism method, and validated by Taqman SNP genotyping assay. Data were correlated with the development of SLE and various clinical symptoms by chi-square analysis.Results.Frequencies of C/C genotype and the C allele at c.1567 T/C were significantly higher in patients than controls. Polymorphism at c.1567 C/T was found to be associated with arthritis and photosensitivity in patients with SLE, which are both connective tissue-related symptoms.Conclusion.The c.1567 T/C polymorphism of LUM is related to the development and clinical symptoms of SLE.

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