title: Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy.
abstract: The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.
authors.affiliation: Department of Internal Medicine, Division of Clinical Immunology, University of Rome Tor Vergata, Rome, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Saccucci
authors.forename: E
authors.initials: E
authors.lastname: Del Duca
authors.forename: N
authors.initials: N
authors.lastname: Rapini
authors.forename: A
authors.initials: A
authors.lastname: Verrotti
authors.forename: S
authors.initials: S
authors.lastname: Piccinini
authors.forename: A
authors.initials: A
authors.lastname: Maccari
authors.forename: G
authors.initials: G
authors.lastname: Canu
authors.forename: F
authors.initials: F
authors.lastname: Angelini
authors.forename: L
authors.initials: L
authors.lastname: Fontana
authors.forename: C
authors.initials: C
authors.lastname: Giannini
authors.forename: F
authors.initials: F
authors.lastname: Chiarelli
authors.forename: M L
authors.initials: ML
authors.lastname: Manca Bitti
authors.forename: N
authors.initials: N
authors.lastname: Bottini
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D017931:DNA Primers / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*
chemical_list: D017931:DNA Primers; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22