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OP-6：CBLB gene and Type 1 diabetes (T1D) in children

 

Yann-Jinn Lee1,2,7, Chi-Yu Huang1, Ching-Wen Dang2, Chiung-Ling Lin2, Chia-Ching Chen3, San-Ging Shu4, Fu-Sung Lo5, Chao-Hsu Lin6, Hsin-Jung Li1, Hsin-Fu Liu2, Chen-Chung Chu2, Marie Lin2, Fu-Yuan Huang1

Departments of 1Pediatrics and 2Medical Research, Mackay Memorial Hospital, Taipei;

3Department of Pediatrics, Chiayi Christian Hospital, Chiayi;

4Department of Pediatrics, Taichung Veterans General Hospital, Taichung;

5Division of Endocrinology, Department of Medicine, Chang Gung Children's Hospital, Taoyuan;

6Department of Pediatrics, Mackay Memorial Hospital, Hsin-Tsu;

7College of Medicine, Taipei Medical University, Taipei; Taiwan

 

The Cblb is a major susceptibility gene for T1D in the rat and functions as a negative regulator of autoimmunity. dbSNP rs2305035 is a C/T exchange and located in exon 10 of the CBLB gene. We report a study on this polymorphism in children with T1D and adult controls living in Taiwan.

 

Patients and Methods

425 unrelated children (aged 0.3-17.7 yr, 198 boys) with T1D and 237 adults without autoimmune diseases were genotyped.

 

Results

Both genotype data were in Hardy-Weinberg equilibrium. Genotype T/T tended to be negatively associated with T1D and phenotype C inclined to be positively associated (boldfaced) (table).

 

T1D

n= 425         %

  Controls

n=237  %

OR

95%CI

c2

p

Genotype*

 

 

 

 

 

 

 

C/C

255

60.0

135

57.0

0.58

0.82-1.56

0.58

0.45

C/T

155

36.5

86

36.3

1.01

0.72-1.40

0.00

0.96

T/T

15

3.5

16

6.7

0.51

0.25-1.04

3.54

0.06

Allele frequencies**

 

 

 

 

 

 

C

665

78.2

356

75.1

1.19

0.91-1.55

1.69

0.19

T

185

21.8

118

24.9

0.84

0.64-1.09

1.69

0.19

Phenotype frequencies***

 

 

 

 

 

C

410

96.5

221

93.2

1.98

0.96-4.08

3.54

0.06

T

170

40.0

102

43.0

0.88

0.64-1.22

0.58

0.45

*, **, and *** p >0.05 (contingency tables)

 

Conclusion

dbSNP rs2305035 of the CBLB gene tends to be associated with T1D in children. More extensive genotyping of the gene in a larger dataset is necessary.

聯絡

李燕晉

馬偕紀念醫院 小兒科部 小兒內分泌科主任

台北：電話 02-25433535, 傳真 02-25433642

淡水：電話 02-28094661, 傳真 02-28094679

研究室：2074

醫學研究部 分子生物二組 (淡水)

淡水鎮民生里民生路45號

E-Mail: yannlee@ms2.mmh.org.tw