FOXP3/Scurfin gene polymorphism is associated with adult onset type 1 diabetes in Japanese, especially in women and slowly progressive-type patients.
OBJECTIVE
Some reports have shown that the cause of type 1 diabetes is associated with dysfunction of regulatory T cells (Tregs). The FOXP3/Scurfin gene is known to be a master gene of Tregs. Therefore, we tried to analyze the relation between the gene polymorphism and adult onset type 1 diabetes and its subtype in the Japanese population.


METHODS
In this study, we recruited 316 Japanese patients with type 1 diabetes (155 male and 161 female, mean onset age 35.4 years) and 432 healthy Japanese controls (263 male and 169 female, mean age 44.4 years). Then we subdivided the patients by onset type, sex, and islet-associated autoantibody positivity.


RESULTS
The genotype frequency of (GT)(16)/(GT)(16) in female patients with overall type 1 diabetes was especially lower than that in controls (19.9% vs. 38.5%, p = 0.0002). Moreover, the genotype frequency of (GT)(16)/(GT)(16) in female patients with slowly progressive type 1 diabetes was significantly lower than that in controls (15.4% vs. 38.5%, p = 0.002).


CONCLUSIONS
Our data showed that the (GT)n microsatelloite polymorphism in the FOXP3/Scrufin gene was associated with Japanese adult onset type 1 diabetes, especially in females, and slowly progressive type 1 diabetes.
Iwase
Kyoko
K
Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan.
Shimada
Akira
A
Kawai
Toshihide
T
Okubo
Yoshiaki
Y
Kanazawa
Yasuhiko
Y
Irie
Junichiro
J
Oikawa
Yoichi
Y
Hirose
Hiroshi
H
Maruyama
Taro
T
Itoh
Hiroshi
H
D000328:Adult; D017668:Age of Onset; D000483:Alleles; D001323:Autoantibodies / Q000097:blood; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D011110:Polymorphism, Genetic; D012737:Sex Factors
D001323:Autoantibodies; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors