Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy
Copyright policy )Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy
AbstractThe 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.
- University of California System United States
- University of Rome Tor Vergata Italy
- University of Southern California United States
- University of Perugia Italy
- University of L'Aquila Italy
Adult, Male, DNA Primer, Adolescent, Mutation, Missense, 612, Settore MED/01 - STATISTICA MEDICA, Polymorphism, Single Nucleotide, Gene Frequency, Diabetes Mellitus, Humans, Genetic Predisposition to Disease, Polymorphism, Autoimmunity; C1858T; Genetics; Italian; LYP; Polymorphism; PTPN22; Replication; Type 1 diabetes; Adolescent; Adult; Alleles; Amino Acid Substitution; Base Sequence; Case-Control Studies; Child; DNA Primers; Diabetes Mellitus, Type 1; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Italy; Male; Mutation, Missense; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Polymorphism, Single Nucleotide; Immunology and Allergy; Immunology; Biochemistry; Genetics, Child, Alleles, DNA Primers, Allele, Base Sequence, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Single Nucleotide, Non-Receptor Type 22, Diabetes Mellitus, Type 1, Amino Acid Substitution, Italy, Male; Adolescent; Alleles; Amino Acid Substitution; Diabetes Mellitus, Type 1; Female; Polymorphism, Single Nucleotide; Italy; Base Sequence; Humans; Gene Frequency; Mutation, Missense; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Child; DNA Primers; Adult; Genetic Predisposition to Disease; Case-Control Studies, Case-Control Studies, Mutation, Female, Protein Tyrosine Phosphatase, Missense, Type 1, Human
Adult, Male, DNA Primer, Adolescent, Mutation, Missense, 612, Settore MED/01 - STATISTICA MEDICA, Polymorphism, Single Nucleotide, Gene Frequency, Diabetes Mellitus, Humans, Genetic Predisposition to Disease, Polymorphism, Autoimmunity; C1858T; Genetics; Italian; LYP; Polymorphism; PTPN22; Replication; Type 1 diabetes; Adolescent; Adult; Alleles; Amino Acid Substitution; Base Sequence; Case-Control Studies; Child; DNA Primers; Diabetes Mellitus, Type 1; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Italy; Male; Mutation, Missense; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Polymorphism, Single Nucleotide; Immunology and Allergy; Immunology; Biochemistry; Genetics, Child, Alleles, DNA Primers, Allele, Base Sequence, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Single Nucleotide, Non-Receptor Type 22, Diabetes Mellitus, Type 1, Amino Acid Substitution, Italy, Male; Adolescent; Alleles; Amino Acid Substitution; Diabetes Mellitus, Type 1; Female; Polymorphism, Single Nucleotide; Italy; Base Sequence; Humans; Gene Frequency; Mutation, Missense; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Child; DNA Primers; Adult; Genetic Predisposition to Disease; Case-Control Studies, Case-Control Studies, Mutation, Female, Protein Tyrosine Phosphatase, Missense, Type 1, Human
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