Tags

Type your tag names separated by a space and hit enter

C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition.
Hum Immunol. 2005 Jul; 66(7):848-52.HI

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.

Authors+Show Affiliations

Instituto de Parasitología y Biomedicina López Neyra, Armilla, Granada, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16112033

Citation

Rueda, Blanca, et al. "C1858T Functional Variant of PTPN22 Gene Is Not Associated With Celiac Disease Genetic Predisposition." Human Immunology, vol. 66, no. 7, 2005, pp. 848-52.
Rueda B, Núñez C, Orozco G, et al. C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Hum Immunol. 2005;66(7):848-52.
Rueda, B., Núñez, C., Orozco, G., López-Nevot, M. A., de la Concha, E. G., Martin, J., & Urcelay, E. (2005). C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Human Immunology, 66(7), 848-52.
Rueda B, et al. C1858T Functional Variant of PTPN22 Gene Is Not Associated With Celiac Disease Genetic Predisposition. Hum Immunol. 2005;66(7):848-52. PubMed PMID: 16112033.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. AU - Rueda,Blanca, AU - Núñez,Concepción, AU - Orozco,Gisela, AU - López-Nevot,M Angel, AU - de la Concha,Emilio G, AU - Martin,Javier, AU - Urcelay,Elena, PY - 2005/02/17/received PY - 2005/04/15/revised PY - 2005/04/21/accepted PY - 2005/8/23/pubmed PY - 2005/12/13/medline PY - 2005/8/23/entrez SP - 848 EP - 52 JF - Human immunology JO - Hum Immunol VL - 66 IS - 7 N2 - 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. SN - 0198-8859 UR - https://www.unboundmedicine.com/medline/citation/16112033/C1858T_functional_variant_of_PTPN22_gene_is_not_associated_with_celiac_disease_genetic_predisposition_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0198-8859(05)00087-X DB - PRIME DP - Unbound Medicine ER -