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Prior data associating the expression of lymphocyte-specific protein tyrosine kinase (LCK) with type 1 diabetes, its critical function in lymphocytes, and the linkage of the region to diabetes in the nonobese diabetic (NOD) mouse model make LCK a premier candidate for a susceptibility gene. Resequencing of LCK in 32 individuals detected seven single nucleotide polymorphisms (SNPs) with allele frequencies >3%, including four common SNPs previously reported. These and six other SNPs from dbSNP were genotyped in a two-stage strategy using 2,430 families and were all shown not to be significantly associated with type 1 diabetes. We conclude that a major role for the common LCK polymorphisms in type 1 diabetes is unlikely. However, we cannot rule out the possibility of there being a causal variant outside the exonic, intronic, and untranslated regions studied.

Original publication

DOI

10.2337/diabetes.53.9.2479

Type

Journal article

Journal

Diabetes

Publication Date

09/2004

Volume

53

Pages

2479 - 2482

Keywords

Adult, Child, Diabetes Mellitus, Type 1, Genetic Predisposition to Disease, Genotype, Humans, Lymphocyte Specific Protein Tyrosine Kinase p56(lck), Polymorphism, Single Nucleotide