title: Toll-like receptor 7 gene single nucleotide polymorphisms and the risk for systemic lupus erythematosus: a case-control study.
abstract: BACKGROUND
  Toll-like receptors (TLRs) are a family of pattern-recognition receptors which play a role in eliciting innate/adaptive immune responses and developing chronic inflammation. So, the aim of this study was to analyze the effect of TLR7 gene single nucleotide polymorphisms (SNPs) rs3853839 and rs179019 on systemic lupus erythematosus (SLE) susceptibility and to assess their relations with various clinical and laboratory data of the patients.
  
  
  METHODS
  This is a case-control study including 50 SLE female patients and 50 healthy controls. TLR7 rs3853839 and rs179019 genotyping was performed using real-time polymerase chain reaction (PCR) TaqMan-based allelic discrimination assay.
  
  
  RESULTS
  Regarding rs3853839, there was a statistically significant difference in the distribution of the genotypes between SLE patients and the control group in our study (P = 0.009). A significant association was detected between TLR7 genotypes (rs385389) and lupus nephritis (p = 0.021). Regarding rs179019, there was no statistically significant difference in the distribution of the genotypes between SLE patients and the control group in our study (P = 0.271) CONCLUSION: This study revealed the plausible role of TLR7 rs3853839 SNP in SLE in Egyptian women.
authors.affiliation: Department of Clinical Pathology, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt.
authors.forename: I I
authors.initials: II
authors.lastname: Raafat
authors.affiliation: Department of Clinical Pathology, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt.
authors.forename: N
authors.initials: N
authors.lastname: El Guindy
authors.affiliation: Department of Clinical Pathology, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt. rasha.shaheen@kasralainy.edu.eg.
authors.forename: R M H
authors.initials: RMH
authors.lastname: Shahin
authors.affiliation: Department of Clinical Pathology, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt.
authors.forename: L A
authors.initials: LA
authors.lastname: Samy
authors.affiliation: Department of Rheumatology and Rehabilitation, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt.
authors.forename: R M
authors.initials: RM
authors.lastname: El Refai
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D051199:Toll-Like Receptor 7 / Q000235:genetics; D055815:Young Adult
chemical_list: C495348:TLR7 protein, human; D051199:Toll-Like Receptor 7
keywords: Lupus nephritis; Real time polymerase chain reaction TaqMan-based allelic discrimination assay; Single nucleotide polymorphisms (SNPs); Systemic lupus erythematosus (SLE); Toll-like receptor 7 (TLR7)