scholarly journals Association of the CD11b rs1143679 polymorphism with systemic lupus erythematosus in the Han Chinese population

2017 ◽  
Vol 46 (3) ◽  
pp. 1008-1014 ◽  
Author(s):  
Chunmei Li ◽  
Fengqing Tong ◽  
Yi Ma ◽  
Kai Qian ◽  
Junyu Zhang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Chinese Population ◽  
Direct Sequencing ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Han Chinese ◽  
Chinese Patients ◽  
Systemic Lupus ◽  
Han Chinese Population

Objective To investigate the association of the CD11b single nucleotide polymorphism (SNP) rs1143679 with systemic lupus erythematosus (SLE) in Han Chinese patients, and to clarify this association with SLE clinical manifestations. Methods PCR–restriction fragment length polymorphism and direct sequencing of CD11b rs1143679 were conducted in 584 patients with SLE and 628 healthy controls in this case–control study to compare genotype and allele frequency distributions. Correlations between CD11b genotypes and clinical manifestations were also determined. Results The frequency of the CD11b rs1143679 GA genotype was 1.89% in Han Chinese patients with SLE, which was much lower than that of European and American populations, but close to the frequency observed in individuals from Hong Kong and Thailand. The CD11b rs1143679 GA genotype was also shown to confer susceptibility to SLE (odds ratio = 4.00, 95% confidence interval = 1.11–14.41). CD11b rs1143679 was found to be significantly associated with nephritis, but not with age of disease onset, arthritis, hematological involvement, or neural lesions. Conclusion CD11b rs1143679 appears to be associated with risk for SLE in the Han Chinese population, and may play an important role in the development of lupus nephritis.

Lack of association between HLA-G 14-bp polymorphism and systemic lupus erythematosus in a Han Chinese population

Lupus ◽  
2009 ◽  
Vol 18 (14) ◽  
pp. 1259-1266 ◽  
Author(s):  
F-X. Wu ◽  
L-J. Wu ◽  
X-Y. Luo ◽  
Z. Tang ◽  
M-H. Yang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Chinese Population ◽  
Han Chinese ◽  
Systemic Lupus ◽  
Han Chinese Population ◽  
G 14

Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population

2017 ◽  
Vol 77 (3) ◽  
pp. 417-417 ◽  
Author(s):  
Leilei Wen ◽  
Caihong Zhu ◽  
Zhengwei Zhu ◽  
Chao Yang ◽  
Xiaodong Zheng ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
B Cells ◽  
Lupus Erythematosus ◽  
Chinese Population ◽  
Ex Vivo ◽  
Han Chinese ◽  
Systemic Lupus ◽  
Han Chinese Population ◽  
Genome Wide ◽  
Coding Variants

ObjectivesSystemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. Genome-wide association studies have identified tens of common variants for SLE. However, the majority of them reside in non-coding sequences. The contributions of coding variants have not yet been systematically evaluated.MethodsWe performed a large-scale exome-wide study in 5004 SLE cases and 8179 healthy controls in a Han Chinese population using a custom exome array, and then genotyped 32 variants with suggestive evidence in an independent cohort of 13 246 samples. We further explored the regulatory effect of one novel non-coding single nucleotide polymorphism (SNP) in ex vivo experiments.ResultsWe discovered four novel SLE gene regions (LCT, TPCN2, AHNAK2 and TNFRSF13B) encompassing three novel missense variants (XP_016859577.1:p.Asn1639Ser, XP_016859577.1:p.Val219Phe and XP_005267356.1:p.Thr4664Ala) and two non-coding variants (rs10750836 and rs4792801) with genome-wide significance (pmeta <5.00×10−8). These variants are enriched in several chromatin states of primary B cells. The novel intergenic variant rs10750836 exhibited an expression quantitative trait locus effect on the TPCN2 gene in immune cells. Clones containing this novel SNP exhibited gene promoter activity for TPCN2 (P=1.38×10−3) whose expression level was reduced significantly in patients with SLE (P<2.53×10−2) and was suggested to be further modulated by rs10750836 in CD19+ B cells (P=7.57×10−5) in ex vivo experiments.ConclusionsThis study identified three novel coding variants and four new susceptibility gene regions for SLE. The results provide insights into the biological mechanism of SLE.

scholarly journals Polymorphism rs3828903 withinMICBIs Associated with Susceptibility to Systemic Lupus Erythematosus in a Northern Han Chinese Population

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Yue-miao Zhang ◽  
Xu-jie Zhou ◽  
Fa-juan Cheng ◽  
Yuan-yuan Qi ◽  
Ping Hou ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Chinese Population ◽  
Differential Expression Analysis ◽  
Han Chinese ◽  
Systemic Lupus ◽  
Han Chinese Population ◽  
Functional Annotations ◽  
The Public ◽  
Gene Differential Expression

Objectives. The variant rs3828903 withinMICB, a nonclassicalMHCclass I chain-related gene, was detected to contribute to systemic lupus erythematosus (SLE) in a Caucasian population. This study aimed to investigate the association in a northern Han Chinese population.Methods. We recruited 1077 SLE patients and 793 controls for analysis. rs3828903 was genotyped by TaqMan allele discrimination assay. Using the public databases, its functional annotations and gene differential expression analysis ofMICBwere evaluated.Results. Significant association between the allele G of rs3828903 and risk susceptibility to SLE was observed after adjusting for sex and age (P=1.87×10-2).In silicoanalyses predicted a higher affinity to transcription factors for allele G (risk) andcis-expression quantitative trait loci (cis-eQTL) effects of rs3828903 in multiple tissues (Pranging from2.79×10-6to6.27×10-38). Furthermore, higher mRNA expressions ofMICBwere observed in B cells, monocytes, and renal biopsies from SLE patients compared to controls.Conclusion. An association between rs3828903 and susceptibility to SLE has been detected in a Chinese population. This together with the functional annotations of rs3828903 convertsMICBinto a main candidate in the pathogenesis of SLE.

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