Jung Yeon Seo1,2, Byeong Ju Youn1,3, Hyun Sub Cheong4, Hyoung Doo Shin5,6. 1. Department of Life Science, Sogang University, Seoul, 04107, Republic of Korea. 2. Department of Core Technology, R&D Center, LG Household & Healthcare (LG H&H), 07795, Seoul, South Korea. 3. Forensic DNA Division, National Forensic Service, Wonju, 26460, Republic of Korea. 4. Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, 04107, Republic of Korea. 5. Department of Life Science, Sogang University, Seoul, 04107, Republic of Korea. hdshin@sogang.ac.kr. 6. Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, 04107, Republic of Korea. hdshin@sogang.ac.kr.
Abstract
BACKGROUND: Type 2 diabetes mellitus (T2DM) is associated with chronic hyperglycemia and lipid metabolism. A previous genome-wide association study revealed the TOMM40-APOE region as novel locus for T2DM susceptibility. OBJECTIVE: This association study was conducted to determine the genetic effects of APOE single nucleotide polymorphisms (SNPs) on T2DM susceptibility and lipid profiles in a Korean population. METHODS: A total of 6 tagging SNPs, including rs7412 and rs429358, were selected for ε genotype analysis and genotyped in 1436 subjects, consisting of 352 T2DM patients and 1084 unaffected controls. RESULTS: Logistic regression analyses were conducted and there were no significant associations among the APOE 6 tagging SNPs, ε genotypes, and haplotypes with T2DM susceptibility. To investigate the association of the APOE tagging SNPs with the lipid profiles, a regression analysis was conducted. As a result, rs7412 was significantly associated with the total cholesterol (TC) and low-density lipoprotein cholesterol (LDL) levels (Pcorr = 2.30 × 10-5 and 3.39 × 10-13, respectively) in the unaffected controls. The ε2 allele and ε3 allele were significantly associated with the TC (Pcorr = 4.46 × 10-6 and 0.02, respectively) and LDL levels (Pcorr = 3.54 × 10-14 and 0.0006, respectively) in the unaffected controls. Further analysis of only the unaffected controls was conducted. As a result, the APOE alleles ε2 and ε3 showed a significant association with the TC and LDL levels (P < 0.05). CONCLUSION: The results of this study may help in understanding APOE polymorphisms and ε alleles and lipid profiles, which have been highly linked to T2DM, in a Korean population.
BACKGROUND: Type 2 diabetes mellitus (T2DM) is associated with chronic hyperglycemia and lipid metabolism. A previous genome-wide association study revealed the TOMM40-APOE region as novel locus for T2DM susceptibility. OBJECTIVE: This association study was conducted to determine the genetic effects of APOE single nucleotide polymorphisms (SNPs) on T2DM susceptibility and lipid profiles in a Korean population. METHODS: A total of 6 tagging SNPs, including rs7412 and rs429358, were selected for ε genotype analysis and genotyped in 1436 subjects, consisting of 352 T2DM patients and 1084 unaffected controls. RESULTS: Logistic regression analyses were conducted and there were no significant associations among the APOE 6 tagging SNPs, ε genotypes, and haplotypes with T2DM susceptibility. To investigate the association of the APOE tagging SNPs with the lipid profiles, a regression analysis was conducted. As a result, rs7412 was significantly associated with the total cholesterol (TC) and low-density lipoprotein cholesterol (LDL) levels (Pcorr = 2.30 × 10-5 and 3.39 × 10-13, respectively) in the unaffected controls. The ε2 allele and ε3 allele were significantly associated with the TC (Pcorr = 4.46 × 10-6 and 0.02, respectively) and LDL levels (Pcorr = 3.54 × 10-14 and 0.0006, respectively) in the unaffected controls. Further analysis of only the unaffected controls was conducted. As a result, the APOE alleles ε2 and ε3 showed a significant association with the TC and LDL levels (P < 0.05). CONCLUSION: The results of this study may help in understanding APOE polymorphisms and ε alleles and lipid profiles, which have been highly linked to T2DM, in a Korean population.
Entities:
Keywords:
Apolipoprotein E (APOE); Korean population; Lipid profiles; Single nucleotide polymorphism (SNP); T2DM (type 2 diabetes mellitus)
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