TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population.
Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations influenced by genetic and environmental factors. Five novel susceptibility genes (TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1) for SLE have been identified in a recent genome-wide association study of a Chinese Han population. This study investigated their relationships with disease subphenotypes, including renal nephritis, photosensitivity, antinuclear antibody (ANA), age at diagnosis, malar rash, discoid rash, immunological disorder, oral ulcer, hematological disorder, neurological disorder, serositis, arthritis and vasculitis. Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with photosensitivity (odds ratio (OR) = 0.87, p = 0.01) and vasculitis (OR = 1.18, p = 0.04); rs10847697 of SLC15A4 with discoid rash (OR = 1.18, p = 0.02); rs6590330 of ETS1 with SLE of age at diagnosis <20 years (OR = 1.24, p = 8.91 x 10(-5)); rs13385731 of RasGRP3 with malar rash (OR = 1.20, p = 0.01), discoid rash (OR = 0.78, p = 0.02) and ANA (OR = 0.72, p = 0.004); rs4917014 of IKZF1 with renal nephritis (OR = 1.13, p = 0.02) and malar rash (OR = 0.83, p = 0.00038), respectively. The study suggested that these susceptibility genes might not only play important roles in the development of SLE, but also contribute to the complex phenotypes of SLE.
The First Affiliated Hospital, Anhui Medical University, Anhui, China.
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D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D051740:Ikaros Transcription Factor / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000503:physiopathology; D008181:Lupus Nephritis / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D050784:Proto-Oncogene Protein c-ets-1 / Q000235:genetics; D020663:ras Guanine Nucleotide Exchange Factors
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C494041:ETS1 protein, human; D020662:Guanine Nucleotide Exchange Factors; C497239:IKZF1 protein, human; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D050784:Proto-Oncogene Protein c-ets-1; C413212:RASGRP3 protein, human; C491359:SLC15A4 protein, human; C117046:TNIP1 protein, human; D020663:ras Guanine Nucleotide Exchange Factors; D051740:Ikaros Transcription Factor