Association analysis of the lymphocyte-specific protein tyrosine kinase (LCK) gene in type 1 diabetes |
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Authors: | Hulme John S Barratt Bryan J Twells Rebecca C J Cooper Jason D Lowe Chris E Howson Joanna M M Lam Alex C Smink Luc J Savage David A Undlien Dag E Guja Cristian Ionescu-Tîirgoviste Constantin Tuomilehto-Wolf Eva Tuomilehto Jaakko Todd John A |
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Affiliation: | JDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2XY, UK. |
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Abstract: | 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. |
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