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Hum Immunol. 1996 Feb;45(2):137-42.

No primary association between the 308 polymorphism in the tumor necrosis factor alpha promoter region and insulin-dependent diabetes mellitus.

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Department of Pathology and Laboratory Medicine, University of Florida, Gainesville 32610, USA.


Whereas TNF-alpha has been implicated in the pathogenesis of IDDM, its possible role as a primary genetic susceptibility factor has not been well investigated. In this study, we analyzed a biallelic polymorphism in the TNF-alpha promotor region in a large collection of IDDM patients and controls ascertained from two ethnic populations (U.S. Caucasians and Chinese in Taiwan). We report that the associations with TNF-alpha are due to linkage disequilibrium between TNF-alpha and the DR3-DQB1*0201 haplotype in both ethnic populations. Our analyses of extended haplotypes for the HLA region further substantiate the conclusion that no primary association exists between IDDM and the TNF-alpha promoter polymorphism.

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