PMID- 31982877 OWN - NLM STAT- MEDLINE DCOM- 20201221 LR - 20201221 IS - 1662-8063 (Electronic) IS - 1662-4246 (Linking) VI - 23 IP - 1-2 DP - 2020 TI - ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes. PG - 20-25 LID - 10.1159/000505344 [doi] AB - OBJECTIVE: Accumulated evidence suggests that ATP-binding cassette A1 transporter (ABCA1) contributes to secreting insulin in pancreatic beta-cells and amyloid beta formation. This study aimed to investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 and susceptibility to type 2 diabetes mellitus (T2DM) in a Han Chinese population. METHODS: A total of 996 T2DM patients and 1,002 controls were included in the study. Three SNPs in the ABCA1 gene, i.e., rs2230806 (R219K), rs1800977 (C69T), and rs9282541 (R230C), were genotyped by SNaPshot. A genotype model, an allele model, a dominant model, and a recessive model were used to assess susceptibility to T2DM. RESULTS: There were significant associations between rs1800977 and T2DM in different genetic models (TT vs. CC, OR = 0.591 [0.446-0.793], p < 0.001; T vs. C, OR = 0.835 [0.735-0.949], p = 0.006; recessive model, OR = 0.583 [0.449-0.756], p < 0.001). There were also significant associations between rs9282541 and T2DM in different genetic models (CT vs. CC, OR = 1.690 [0.807-1.005], p = 0.048; T vs. C, OR = 1.756 [0.694-1.060], p = 0.029; dominant model, OR = 1.735 [0.715-1.034], p = 0.037). CONCLUSION: Our case-control study showed that the two SNPs rs1800977 and rs9282541 in the ABCA1 gene are significantly associated with susceptibility to T2DM in our Han Chinese population. Study of further mechanisms should be performed before application to clinical therapy. CI - (c) 2020 S. Karger AG, Basel. FAU - Du, Weiping AU - Du W AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Hu, Zhixi AU - Hu Z AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Wang, Li AU - Wang L AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Li, Miaomiao AU - Li M AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Zhao, Dong AU - Zhao D AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Li, Hui AU - Li H AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Wei, Junsheng AU - Wei J AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China. FAU - Zhang, Rui AU - Zhang R AD - Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China, zr2019049@163.com. LA - eng PT - Journal Article DEP - 20200124 PL - Switzerland TA - Public Health Genomics JT - Public health genomics JID - 101474167 RN - 0 (ABCA1 protein, human) RN - 0 (ATP Binding Cassette Transporter 1) SB - IM MH - ATP Binding Cassette Transporter 1/*genetics MH - Case-Control Studies MH - China/epidemiology MH - *Diabetes Mellitus, Type 2/epidemiology/genetics MH - Female MH - Genetic Predisposition to Disease MH - Genetic Testing/methods MH - Humans MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide OTO - NOTNLM OT - ABCA1 OT - Single nucleotide polymorphism OT - Type 2 diabetes mellitus EDAT- 2020/01/27 06:00 MHDA- 2020/12/22 06:00 CRDT- 2020/01/27 06:00 PHST- 2019/09/17 00:00 [received] PHST- 2019/11/22 00:00 [accepted] PHST- 2020/01/27 06:00 [pubmed] PHST- 2020/12/22 06:00 [medline] PHST- 2020/01/27 06:00 [entrez] AID - 000505344 [pii] AID - 10.1159/000505344 [doi] PST - ppublish SO - Public Health Genomics. 2020;23(1-2):20-25. doi: 10.1159/000505344. Epub 2020 Jan 24.