NDLI: A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes

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A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes

Content Provider	Springer Nature Link
Author	Bassuny, Wafaa M. Ihara, Kenji Sasaki, Yuka Kuromaru, Ryuichi Koh, Hitoshi Matsuura, buo Hara, Toshiro
Copyright Year	2003
Abstract	FOXP3/Scurfin, a member of forkhead/winged-helix proteins, is involved in the regulation of T-cell activation, and essential for normal immune homeostasis. The FOXP3/Scurfin gene is located on chromosome Xp11.23, which includes one of the type 1 diabetes susceptible loci. Therefore, we investigated whether the human FOXP3/Scurfin gene might be a new candidate gene for type 1 diabetes. We first screened the human FOXP3/Scurfin gene for microsatellite and single nucleotide polymorphisms. Next, we performed an association study between the FOXP3/Scurfin gene and type 1 diabetes. Then, the evaluation of promoter/enhancer activity of the intron with (GT)n polymorphism was performed by dual luciferase reporter assay. We demonstrated two regions contained microsatellite polymorphisms; one was (GT)n, located on intron zero and the other (TC)n on intron 5, which were under linkage-disequilibrium. The (GT)15 allele showed a significantly higher frequency in patients with type 1 diabetes than in controls (43.1% vs 32.6%, P=0.0027). The genotype frequencies of (GT)15/(GT)15 in female patients and of (GT)15 in male patients tended to be higher than those in female (P=0.064) and male (P=0.061) controls, respectively. A significant difference in the enhancer activity between (GT)15 and (GT)16 dinucleotide repeats was detected. In conclusion, the FOXP3/Scurfin gene appears to confer a significant susceptibility to type 1 diabetes in the Japanese population.
Starting Page	149
Ending Page	156
Page Count	8
File Format	PDF
ISSN	00937711
Journal	Immunogenetics
Volume Number	55
Issue Number	3
e-ISSN	14321211
Language	English
Publisher	Springer-Verlag
Publisher Date	2003-05-16
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Type 1 diabetes FOXP3/Scurfin Polymorphism Linkage disequilibrium Dual luciferase reporter assay
Content Type	Text
Resource Type	Article
Subject	Genetics Immunology

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