According to recent genome-wide association studies, a number of single nucleotide polymorphisms (SNPs) are reported to be
associated with type 2 diabetes mellitus (T2DM). The aim of the present study was to investigate the association among the
polymorphisms of
SLC30A8, HHEX,
CDKN2A/B, IGF2BP2,
FTO,
WFS1,
CDKAL1 and
KCNQ1 and the risk of T2DM in the Korean population. This study was based on a multicenter case-control study, including 908 patients
with T2DM and 502 non-diabetic controls. We genotyped rs13266634, rs1111875, rs10811661, rs4402960, rs8050136, rs734312, rs7754840
and rs2237892 and measured the body weight, body mass index and fasting plasma glucose in all patients and controls. The strongest
association was found in a variant of
CDKAL1 [rs7754840, odds ratio (OR) = 1.77, 95% CI = 1.50–2.10,
p = 5.0 × 10
−11]. The G allele of rs1111875 (OR = 1.43, 95% CI = 1.18–1.72,
p = 1.8 × 10
−4) in
HHEX), the T allele of rs10811661 (OR = 1.47, 95% CI = 1.23–1.75,
p = 2.1 × 10
−5) in
CDKN2A/B) and the C allele of rs2237892 (OR = 1.31, 95% CI = 1.10–1.56,
p = 0.003) in
KCNQ1 showed significant associations with T2DM. Rs13266634 (OR = 1.19, 95% CI = 1.00–1.42,
p = 0.045) in
SLC30A8 showed a nominal association with the risk of T2DM, whereas SNPs in
IGF2BP2,
FTO and
WFS1 were not associated. In conclusion, we have shown that SNPs in
HHEX,
CDKN2A/B,
CDKAL1,
KCNQ1 and
SLC30A8 confer a risk of T2DM in the Korean population.
Keywords Type 2 diabetes -
SLC30A8
-
HHEX
-
CDKN2A/B
-
CDKAL1
-
KCNQ1
- SNP - Genetic association
Y. Lee and E. S. Kang contributed equally to this work.