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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
SDF1-3' G801A polymorphisms in Polish patients with systemic lupus erythematosus
Teresa Warchoł1, Margarita Lianeri, Jan K Łacki
1Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego Street, 60-781, Poznan, Poland.
Abstract:
It has been reported that stromal cell-derived factor-1 (SDF1), currently also designated CXCL12, plays a significant role in the development of nephritis and death in the lupus mice model. Using restriction length fragment polymorphism (RFLP) analysis we assessed the frequencies of SDF1-3' G801A (rs 1801157) polymorphic variants between systemic lupus erythematosus (SLE) patients (n = 150) and controls (n = 300). There were no significant differences in the prevalence of SDF1-3' G801A polymorphic variants in SLE patients and healthy individuals. However, we observed that the SDF1-3' A/A and G/A genotypes (recessive model) contributed to renal manifestations of SLE OR = 3.042 (95% CI = 1.527-6.058, P = 0.002), and the p value stayed statistically significant after Bonferroni correction (p(corr) = 0.032) in SLE patients. We also found an association of the SDF1-3' A/A and G/A genotypes (recessive model) with dermal manifestations of SLE OR = 2.510 (95% CI = 1.247-5.052, P = 0.0122), (p(corr) = 0.1952) but this did not remain statistically significant after Bonferroni correction. Our observations suggest that the SDF1-3' G801A genotype may be associated with some clinical manifestations in patients with SLE.
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