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

Summary 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.