title: IgE FcɛR1β polymorphism and risk of developing chronic spontaneous urticaria: A study in an ethnic Kashmiri population.
abstract: BACKGROUND
  The pathogenesis of chronic spontaneous urticaria involves interplay between the genetic and environmental factors, most of which is still poorly understood. It is well-recognized that 30-40% of chronic spontaneous urticaria is autoimmune in nature. Chronic autoimmune urticaria is caused by anti-FcɛR1β and less frequently, by anti-IgE auto antibodies that lead to mast cell and basophil activation, thereby giving rise to the release of histamine and other proinflammatory mediators. We investigated the association between SNP loci in FcɛR1β and chronic spontaneous urticaria and to see its relation with serum IgE levels in Kashmiri population.
  
  
  METHODS
  The autologous serum skin test was used as a screening test for chronic autoimmune urticaria. PCR-RFLP was used to detect the genotype of the SNP loci. Serum IgE levels were assessed by ELISA kit.
  
  
  RESULTS
  No significant difference was found between the study population and control group in genotype distribution (wild and variant) among FcɛR1β loci (P value=0.06, odds ratio=0.29). The frequency of FcɛR1β (C109T) in autologous serum skin test positive chronic autoimmune urticaria patients with the CT genotype was found to be statistically non-significant when compared with the wild genotype (P=0.35). Carriers of FcɛR1β (T allele) had a more significant risk of developing CAU than those with C allele (P=0.01). In our population serum total IgE levels did not find any statistical significance with regard to ASST positive & ASST negative patients (P=0.26).
  
  
  CONCLUSIONS
  There is statistically no significant association between FcɛR1β gene polymorphism and CSU in Kashmiri population; however, there is a probability of developing CSU in patients carrying FcɛR1β T allele. Furthermore, serum total IgE levels had no significant association with the development of CAU.
authors: Department of Immunology & Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India. Electronic address: roohi_wani@yahoo.com.
authors: R
authors: R
authors: Rasool
authors: Department of Immunology & Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India.
authors: I A
authors: IA
authors: Shera
authors: Department of Immunology & Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India.
authors: S
authors: S
authors: Nissar
authors: Department of Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India.
authors: Q
authors: Q
authors: Yousuf
authors: Department of Immunology & Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India.
authors: Z A
authors: ZA
authors: Shah
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D002648:Child; D002908:Chronic Disease; D005006:Ethnicity; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007194:India; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017455:Receptors, IgE / Q000235:genetics*; D012306:Risk; D014581:Urticaria / Q000235:genetics / Q000276:immunology*; D055815:Young Adult
chemical_list: C502447:MS4A2 protein, human; D017455:Receptors, IgE; D007073:Immunoglobulin E
keywords: Autologous serum skin test (ASST); Chronic autoimmune urticaria (CAU); Chronic idiopathic urticaria (CIU); FcɛR1β (Fc epsilon receptor I beta)