Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus
| Autor: | Qian Huang, Linlin Zhang, Xiaoxiao Wu, Rui-Shan Liu, Jing Ni, Rui-Xue Leng, Qianling Ye, Dongsheng Di, Xu-Fan Wang |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Oncology medicine.medical_specialty Quantitative Trait Loci Population Single-nucleotide polymorphism 030105 genetics & heredity Quantitative trait locus Polymorphism Single Nucleotide 03 medical and health sciences Asian People Polymorphism (computer science) Internal medicine Genetics medicine Humans Lupus Erythematosus Systemic education Genetic Association Studies Genetics (clinical) education.field_of_study Lupus erythematosus Proteinuria business.industry Middle Aged medicine.disease src-Family Kinases 030104 developmental biology Meta-analysis Expression quantitative trait loci Female Kidney Diseases medicine.symptom business |
| Zdroj: | Journal of Human Genetics. 65:675-681 |
| ISSN: | 1435-232X 1434-5161 |
| Popis: | Previous studies are inconclusive on the relationships between BLK gene polymorphisms and clinical features of systemic lupus erythematosus (SLE). The present study aimed to estimate association between BLK loci and SLE clinical features in Chinese population. Associations between BLK single-nucleotide polymorphisms (SNPs) and susceptibility to SLE in this study were estimated using data of 1205 health controls previously reported in the same population. And a total of 814 SLE patients recruited from two different sources according with ACR criteria were analyzed for genotype–phenotype associations. A meta-analysis was conducted of the associations between BLK loci and renal disorder in SLE. The expression quantitative trait locus (eQTL) data were also extracted from the public databases for the selected SNPs. Significant associations were observed between these SNPs and susceptibility to SLE. In addition, the data showed that rs2618479 and rs7812879 were associated with renal disorder [OR = 1.51 (95% CI: 1.15, 1.99) and 1.61 (95% CI: 1.21, 2.14), Pcorr = 0.033 and 0.011, respectively] and proteinuria [OR = 1.47 (95% CI: 1.12, 1.95) and 1.52 (95% CI: 1.14, 2.03), Pcorr = 0.048 and 0.040, respectively]. The consistent associations were observed in two independent centers as well as new cases group. The result of meta-analysis for rs2618479 was also significant [OR = 1.35 (95% CI: 1.12, 1.62)]. In addition, bioinformatics analysis demonstrated that the two SNPs were significantly associated with the expression of BLK in whole blood and several immune cells. Our data support that variant loci of BLK are associated with presence of renal disorder in patients with SLE. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink