LETTER TO JMG

Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study

H Qu¹, M-C Tessier¹, T J Hudson², C Polychronakos¹

¹ The McGill University Health Center (Montreal Children’s Hospital), Montréal, Quebec, Canada
² McGill University and Genome Quebec Innovation Centre, Montréal, Quebec, Canada

Correspondence to:
Correspondence to:
Dr C Polychronakos
The McGill University Health Center (Montreal Children’s Hospital), 2300 Tupper, Montréal, Quebec H3H 1P3, Canada; constantin.polychronakos@mcgill.ca

Keywords: family based association study; haplotype; PTPN22; SNP; type 1 diabetes

The first 150 words of the full text of this article appear below.

Genetic susceptibility to the autoimmune B cell destruction that leads to Type 1 diabetes mellitus (T1D) is a complex trait.¹ In recent years, many T1D associations have been reported, but only three (major histocompatibility complex, insulin, and cytotoxic T lymphocyte associated protein 4) have been confirmed in several independent studies.^2,3 Independent confirmation is essential to eliminate artefacts of publication bias, multiple hypothesis testing, and, in findings of case–control studies, population stratification.⁴

Bottini et al recently found, by a case–control design in two independent populations, a novel association of T1D with a single nucleotide polymorphism (SNP) that caused a R620W aminoacid substitution (dbSNP rs2476601) in the lymphoid protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene.⁵PTPN22 encodes LYP, a non-receptor tyrosine phosphatase involved in lymphocyte function.

This paper leaves two potential questions unanswered. Firstly, results of case–control studies are potentially artefacts of population stratification, no matter how well matched . . . [Full text of this article]

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