PMID- 27576735 OWN - NLM STAT- MEDLINE DCOM- 20170404 LR - 20181113 IS - 1476-511X (Electronic) IS - 1476-511X (Linking) VI - 15 IP - 1 DP - 2016 Aug 30 TI - A single-nucleotide polymorphism C-724 /del in the proter region of the apolipoprotein M gene is associated with type 2 diabetes mellitus. PG - 142 LID - 10.1186/s12944-016-0307-3 [doi] LID - 142 AB - BACKGROUND: Apolipoprotein M (apoM) was the carrier of the biologically active lipid mediator sphingosine-1-phospate in high density lipoprotein cholesterol (HDL-C) and played a critical role in formation and maturation of prebeta-HDL-C particles. The plasma apoM levels were decreased obviously in patients with type 2 diabetes mellitus (T2DM). A new single-nucleotide polymorphism (SNP) C-724del in apoM promoter was associated with a higher risk for coronary artery diseases (CAD) and myocardial infarction, could reduce promoter activities and apoM expression in vitro. The primary aim of the present case-controls study was to investigate the effect of apoM SNP C-724del on apoM expression in vivo and its association with T2DM susceptibility in an eastern Han Chinese cohort. METHODS: Two hundred and fifty-nine T2DM patients and seventy-six healthy controls were included in this study. Amplifying DNA of apoM proximal promoter region including SNP C-724del by Real-Time Polymerase Chain Reaction (RT-PCR) and amplicons sequencing. The plasma apoM concentrations were assayed by enzyme linked immunosorbentassay (ELISA). RESULTS: Four polymorphic sites, rs805297 (C-1065A), rs9404941 (T-855C), rs805296 (T-778C), C-724del were confirmed. rs805297 (C-1065A) and rs9404941 (T-855C) showed no statistical difference in allele frequencies and genotype distributions between T2DM patients and healthy controls just as previous studies. It's worth noting that the difference of rs805296 (T-778C) between these two groups was not found in this study. In SNP C-724del, the frequency of del allele and mutant genotypes (del/del, C/del) were higher in T2DM patients compared with healthy controls (p = 0.035; P = 0.040, respectively), while the plasma apoM levels of C-724del mutant allele carriers compared with the wide-type homozygotes carriers were not statistically different in T2DM patients (18.20 +/- 8.53 ng/uL vs 20.44 +/- 10.21 ng/uL, P = 0.245). CONCLUSION: The polymorphism C-724del in the promoter region of the apoM gene could confer the risk of T2DM among eastern Han Chinese. Unfortunately, the lowing of plasma apoM levels of C-724del mutant allele carriers compared with the wide-type homozygotes carriers in T2DM patients was not statistically different in present study, so further researchs were needed by enlarging the sample. FAU - Zhang, Pu-Hong AU - Zhang PH AD - Anhui Province Key Laboratory of Biological Macro-molecules Research, Wannan Medical College, Wuhu, People's Republic of China. FAU - Gao, Jia-Lin AU - Gao JL AD - Anhui Province Key Laboratory of Biological Macro-molecules Research, Wannan Medical College, Wuhu, People's Republic of China. AD - Department of Endocrinology and Genetic Metabolism, Yijishan Hospital of Wannan Medical College, Wuhu, People's Republic of China. FAU - Pu, Chun AU - Pu C AD - Department of Clinical Laboratory, Yijishan Hospital of Wannan Medical College, Wuhu, People's Republic of China. FAU - Feng, Gang AU - Feng G AD - Department of Clinical Laboratory, Yijishan Hospital of Wannan Medical College, Wuhu, People's Republic of China. FAU - Wang, Li-Zhuo AU - Wang LZ AD - Department of Biochemistry and Molecular Biology, Wannan Medical College, 22 West Wenchang Road, Wuhu, 241002, People's Republic of China. AD - Anhui Province Key Laboratory of Biological Macro-molecules Research, Wannan Medical College, Wuhu, People's Republic of China. FAU - Huang, Li-Zhu AU - Huang LZ AD - Department of Clinical Laboratory, Yijishan Hospital of Wannan Medical College, Wuhu, People's Republic of China. FAU - Zhang, Yao AU - Zhang Y AD - Department of Biochemistry and Molecular Biology, Wannan Medical College, 22 West Wenchang Road, Wuhu, 241002, People's Republic of China. yaozhang_wnmc@yahoo.com. AD - Anhui Province Key Laboratory of Biological Macro-molecules Research, Wannan Medical College, Wuhu, People's Republic of China. yaozhang_wnmc@yahoo.com. LA - eng PT - Journal Article DEP - 20160830 PL - England TA - Lipids Health Dis JT - Lipids in health and disease JID - 101147696 RN - 0 (APOM protein, human) RN - 0 (Apolipoproteins) RN - 0 (Apolipoproteins M) RN - 0 (Lipocalins) SB - IM MH - Adult MH - Aged MH - Apolipoproteins/blood/*genetics MH - Apolipoproteins M MH - Diabetes Mellitus, Type 2/blood/*genetics/pathology MH - Female MH - *Genetic Association Studies MH - *Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Lipocalins/blood/*genetics MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide MH - Risk MH - Sequence Deletion PMC - PMC5006532 OTO - NOTNLM OT - Apolipoproteins OT - Diabetes OT - Single-nucleotide polymorphism EDAT- 2016/09/01 06:00 MHDA- 2017/04/05 06:00 PMCR- 2016/08/30 CRDT- 2016/09/01 06:00 PHST- 2016/03/28 00:00 [received] PHST- 2016/08/10 00:00 [accepted] PHST- 2016/09/01 06:00 [entrez] PHST- 2016/09/01 06:00 [pubmed] PHST- 2017/04/05 06:00 [medline] PHST- 2016/08/30 00:00 [pmc-release] AID - 10.1186/s12944-016-0307-3 [pii] AID - 307 [pii] AID - 10.1186/s12944-016-0307-3 [doi] PST - epublish SO - Lipids Health Dis. 2016 Aug 30;15(1):142. doi: 10.1186/s12944-016-0307-3.