Intron polymorphism in the KIAA0350 gene is reproducibly associated with susceptibility to type 1 diabetes (T1D) in the Han Chinese population

Clin Endocrinol (Oxf). 2009 Jul;71(1):46-9. doi: 10.1111/j.1365-2265.2008.03437.x. Epub 2008 Sep 28.


Objective: Three independent genome-wide association studies in white populations have reported that single nucleotide polymorphisms (SNPs) in the KIAA0350 gene are associated with susceptibility to type 1 diabetes (T1D). The gene product of KIAA0350 is predicted to be a sugar binding C-type lectin. In the present study, we investigated whether SNPs in this gene were associated with T1D in the Han Chinese population.

Design and methods: In this case-controlled association study, a total of 205 T1D patients and 422 non-diabetic subjects of the Han Chinese population were enrolled. Two SNPs, namely, rs17802927 and rs725613, in the KIAA0350 gene were genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) protocol.

Results: The intron SNP rs725613 was strongly associated with T1D in the Han Chinese population [P = 0.00007, odds ratio (OR) = 0.527, 95% confidence interval (CI) = 0.383-0.726], and the frequencies of its genotypes in the T1D group significantly differed from those in the control group (P = 0.0001).

Conclusion: The intron polymorphism rs725613 in the KIAA0350 gene is associated with susceptibility to T1D, and this association is not race specific.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asians / ethnology
  • Asians / genetics
  • Case-Control Studies
  • China / epidemiology
  • Diabetes Mellitus, Type 1 / ethnology*
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Introns*
  • Lectins, C-Type / genetics*
  • Male
  • Middle Aged
  • Monosaccharide Transport Proteins / genetics*
  • Polymorphism, Single Nucleotide*


  • CLEC16A protein, human
  • Lectins, C-Type
  • Monosaccharide Transport Proteins