title: Gender-specific association of the PTPN22 C1858T polymorphism with achalasia.
abstract: The protein tyrosine phosphatase N22 (PTPN22) gene encodes a lymphoid-specific phosphatase (LYP), a downregulator of T-cell activation. Because a functional PTPN22 polymorphism, C1858T, has been found to be associated with different autoimmune diseases, we aimed to elucidate the role of this variant in predisposition to achalasia. We performed a case-control study with 231 nonrelated Spanish patients of white ethnicity diagnosed with achalasia and in 554 healthy control subjects, all genotyped for PTPN22 C1858T using TaqMan chemistry. The frequency of the 1858T allele was higher in the achalasia patients than in the healthy controls (carriers of allele T vs CC: OR = 1.38, 95% confidence interval [95% CI] 0.88-2.16, p = 0.13). Moreover a different genotype distribution was found between female and male patients (carriers of allele T vs CC: OR = 2.06, 95% CI 0.96-4.42, p = 0.04) and also between female patients and controls (OR = 1.94, 95% CI 1.12-3.36, p = 0.01), but not between male patients and controls (OR = 0.94, 95% CI 0.50-1.77, p = 0.85). We conclude that the PTPN22 1858T allele is a susceptibility factor for Spanish women with achalasia.
authors.affiliation: Immunology Department, Hospital Universitario San Carlos, Madrid, Spain.
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Santiago
authors.forename: Alfonso
authors.initials: A
authors.lastname: Martínez
authors.forename: M Soledad
authors.initials: MS
authors.lastname: Benito
authors.forename: Antonio
authors.initials: A
authors.lastname: Ruiz de León
authors.forename: Juan Luis
authors.initials: JL
authors.lastname: Mendoza
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: M Angeles
authors.initials: MA
authors.lastname: Figueredo
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001323:Autoantibodies / Q000097:blood; D016022:Case-Control Studies; D004931:Esophageal Achalasia / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009197:Myenteric Plexus / Q000276:immunology; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012737:Sex Factors; D013030:Spain / Q000453:epidemiology
chemical_list: D001323:Autoantibodies; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22