C1858T Functional Variant of PTPN22 Gene Is Not Associated With Celiac Disease Genetic Predisposition
Recent findings have demonstrated that the single nucleotide polymorphism 1858C→T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. The aim of this study was to assess the role of...
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| Published in | Human Immunology Vol. 66; no. 7; pp. 848 - 852 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.07.2005
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| Subjects | |
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| Abstract | Recent findings have demonstrated that the single nucleotide polymorphism 1858C→T located at the P1 motif of the
PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. The aim of this study was to assess the role of the
PTPN22 1858C→T polymorphism in the genetic predisposition to celiac disease (CD). We analyzed a case-control cohort composed by 534 patients with CD and 653 healthy controls and additionally a panel of 271 celiac families. The
PTPN22 1858C→T genotyping was performed by TaqMan 5′ allelic discrimination assay. We did not observed any statistically significant deviation after comparing allele and genotypic frequencies of
PTPN22 1858C→T between patients with CD and controls. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of
PTPN22 1858C→T alleles to the affected offspring. Therefore, our data suggest that the
PTPN22 1858 single nucleotide polymorphism has no, or only a negligible, effect on CD susceptibility in this Spanish population. |
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| AbstractList | Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. The aim of this study was to assess the role of the PTPN22 1858C-->T polymorphism in the genetic predisposition to celiac disease (CD). We analyzed a case-control cohort composed by 534 patients with CD and 653 healthy controls and additionally a panel of 271 celiac families. The PTPN22 1858C-->T genotyping was performed by TaqMan 5' allelic discrimination assay. We did not observed any statistically significant deviation after comparing allele and genotypic frequencies of PTPN22 1858C-->T between patients with CD and controls. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of PTPN22 1858C-->T alleles to the affected offspring. Therefore, our data suggest that the PTPN22 1858 single nucleotide polymorphism has no, or only a negligible, effect on CD susceptibility in this Spanish population. Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. The aim of this study was to assess the role of the PTPN22 1858C-->T polymorphism in the genetic predisposition to celiac disease (CD). We analyzed a case-control cohort composed by 534 patients with CD and 653 healthy controls and additionally a panel of 271 celiac families. The PTPN22 1858C-->T genotyping was performed by TaqMan 5' allelic discrimination assay. We did not observed any statistically significant deviation after comparing allele and genotypic frequencies of PTPN22 1858C-->T between patients with CD and controls. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of PTPN22 1858C-->T alleles to the affected offspring. Therefore, our data suggest that the PTPN22 1858 single nucleotide polymorphism has no, or only a negligible, effect on CD susceptibility in this Spanish population. Recent findings have demonstrated that the single nucleotide polymorphism 1858C→T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. The aim of this study was to assess the role of the PTPN22 1858C→T polymorphism in the genetic predisposition to celiac disease (CD). We analyzed a case-control cohort composed by 534 patients with CD and 653 healthy controls and additionally a panel of 271 celiac families. The PTPN22 1858C→T genotyping was performed by TaqMan 5′ allelic discrimination assay. We did not observed any statistically significant deviation after comparing allele and genotypic frequencies of PTPN22 1858C→T between patients with CD and controls. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of PTPN22 1858C→T alleles to the affected offspring. Therefore, our data suggest that the PTPN22 1858 single nucleotide polymorphism has no, or only a negligible, effect on CD susceptibility in this Spanish population. |
| Author | Rueda, Blanca Orozco, Gisela Urcelay, Elena Martin, Javier de la Concha, Emilio G. Núñez, Concepción López-Nevot, M. Ángel |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/16112033$$D View this record in MEDLINE/PubMed |
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| Snippet | Recent findings have demonstrated that the single nucleotide polymorphism 1858C→T located at the P1 motif of the
PTPN22 (protein tyrosine phosphatase... Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase... Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase... |
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| SubjectTerms | Autoimmune Diseases - genetics Case-Control Studies celiac disease Celiac Disease - genetics Child Child, Preschool disequilibrium test Female Gene Frequency Genetic Predisposition to Disease - genetics Genotype Heterozygote Homozygote Humans Male polymorphism Polymorphism, Single Nucleotide - genetics protein tyrosine phosphatase nonreceptor 22 ( PTPN22) gene Protein Tyrosine Phosphatase, Non-Receptor Type 22 protein tyrosine phosphatases Protein Tyrosine Phosphatases - genetics Spain transmission |
| Title | C1858T Functional Variant of PTPN22 Gene Is Not Associated With Celiac Disease Genetic Predisposition |
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