title: Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
abstract: 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 x 10(-11)]. The G allele of rs1111875 (OR = 1.43, 95% CI = 1.18-1.72, p = 1.8 x 10(-4)) in HHEX), the T allele of rs10811661 (OR = 1.47, 95% CI = 1.23-1.75, p = 2.1 x 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.
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon-Dong Seodaemun-Gu, Seoul, 120-752, South Korea.
authors.forename: Yong-Ho
authors.initials: YH
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon-Dong Seodaemun-Gu, Seoul, 120-752, South Korea.|Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.|Institute of Endocrine Research, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Eun Seok
authors.initials: ES
authors.lastname: Kang
authors.affiliation: Department of Internal Medicine, Inha University College of Medicine, Inchon, South Korea.
authors.forename: So Hun
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon-Dong Seodaemun-Gu, Seoul, 120-752, South Korea.
authors.forename: Seung Jin
authors.initials: SJ
authors.lastname: Han
authors.affiliation: Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.|Department of Pharmacology, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Chul Hoon
authors.initials: CH
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Kwandong University College of Medicine, Gangneung, South Korea.
authors.forename: Hyeong Jin
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon-Dong Seodaemun-Gu, Seoul, 120-752, South Korea.|Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.|Institute of Endocrine Research, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Chul Woo
authors.initials: CW
authors.lastname: Ahn
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon-Dong Seodaemun-Gu, Seoul, 120-752, South Korea.|Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.|Institute of Endocrine Research, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Bong Soo
authors.initials: BS
authors.lastname: Cha
authors.affiliation: Department of Internal Medicine, Inha University College of Medicine, Inchon, South Korea.
authors.forename: Moonsuk
authors.initials: M
authors.lastname: Nam
authors.affiliation: Department of Preventive Medicine and Public Health, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Chung Mo
authors.initials: CM
authors.lastname: Nam
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon-Dong Seodaemun-Gu, Seoul, 120-752, South Korea. endohclee@yuhs.ac.|Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea. endohclee@yuhs.ac.|Institute of Endocrine Research, Yonsei University College of Medicine, Seoul, South Korea. endohclee@yuhs.ac.
authors.forename: Hyun Chul
authors.initials: HC
authors.lastname: Lee
mesh_terms: D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D001786:Blood Glucose / Q000378:metabolism; D015992:Body Mass Index; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics; D051360:Cyclin-Dependent Kinase 5 / Q000235:genetics; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D007723:Korea / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000075703:Zinc Transporter 8; D012359:tRNA Methyltransferases
chemical_list: D001786:Blood Glucose; C493966:CDKN2B protein, human; D027682:Cation Transport Proteins; D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16; D005819:Genetic Markers; C078492:HHEX protein, human; D018398:Homeodomain Proteins; C498779:IGF2BP2 protein, human; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D008565:Membrane Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; C492522:SLC30A8 protein, human; D014157:Transcription Factors; D000075703:Zinc Transporter 8; C114987:wolframin protein; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; C526492:FTO protein, human; D012359:tRNA Methyltransferases; D051360:Cyclin-Dependent Kinase 5; C525110:CDKAL1 protein, human