title: PTPN22 gene polymorphism in Egyptian alopecia areata patients and its impact on response to diphencyprone immunotherapy.
abstract: PTPN22 1858C>T gene polymorphism has been associated with several autoimmune disorders including alopecia areata. The aim of the current study was to investigate the effect of the inherited genetic polymorphism 1858C>T of PTPN22 gene on the predisposition to severe forms of alopecia areata and its effect on the response to DPC treatment. To achieve our aim, PTPN22 1858C>T genotyping was performed by PCR-based restricted fragment length polymorphism (PCR-RFLP) analysis. The study included 103 Egyptian patients with extensive alopecia areata treated by DPC. Hundred healthy age and sex matched blood donors were included in the current study as a control group. Results of genotyping showed that PTPN22 CT and TT mutant genotypes were significantly higher in AA patients compared to controls and conferred increase risk of AA (OR=2.601, 95% CI=1.081-6.255). Statistical comparison between AA patients with wild and mutant genotypes revealed that the duration of the illness was significantly longer in those harboring the mutant genotypes. Moreover, the association of other autoimmune diseases as atopy and diabetes mellitus was higher in patients with mutant genotypes. Furthermore, PTPN22 1858C>T genetic polymorphism did not affect the patients' response to DPC immunotherapy.
authors.affiliation: Faculty of Medicine, Cairo University, Egypt.
authors.forename: Bakr Mohamed
authors.initials: BM
authors.lastname: El-Zawahry
authors.forename: Omar Ahmed
authors.initials: OA
authors.lastname: Azzam
authors.forename: Nagla Sameh
authors.initials: NS
authors.lastname: Zaki
authors.forename: Heba Mohamed
authors.initials: HM
authors.lastname: Abdel-Raheem
authors.forename: Dalia Ahmed
authors.initials: DA
authors.lastname: Bassiouny
authors.forename: Mervat Mamdooh
authors.initials: MM
authors.lastname: Khorshied
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000506:Alopecia Areata / Q000188:drug therapy* / Q000235:genetics*; D016022:Case-Control Studies; D003521:Cyclopropanes / Q000627:therapeutic use*; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007167:Immunotherapy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012008:Recurrence; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D003521:Cyclopropanes; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; C029402:diphenylcyclopropenone