PMID- 31713534 OWN - NLM STAT- MEDLINE DCOM- 20200323 LR - 20221207 IS - 1643-3750 (Electronic) IS - 1234-1010 (Print) IS - 1234-1010 (Linking) VI - 25 DP - 2019 Nov 12 TI - The Association of UNC13B Gene Polymorphisms and Diabetic Kidney Disease in a Chinese Han Population. PG - 8527-8533 LID - 10.12659/MSM.919930 [doi] AB - BACKGROUND Polymorphisms in the UNC13B gene are associated with diabetic kidney disease (DKD) in the European population. Asian populations are more likely to suffer from complications of type 2 diabetes mellitus (T2DM), including diabetic kidney disease (DKD). This case-control study aimed to investigate the association between UNC13B gene polymorphisms and DKD in a Chinese Han population. MATERIAL AND METHODS Five single nucleotide polymorphism (SNP) loci (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) were genotyped in the UNC13B gene in 600 Chinese Han subjects. The study population included patients with T2DM with DKD (N=292) and control patients with T2DM without DKD (N=308). SNP genotyping was performed using a Sequenom MassARRAY system using chip-based matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). RESULTS There were no significant differences in the distribution of allele or genotype frequencies in the five UNC13B SNP markers (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) between the DKD group and control group of patients with T2DM. Haplotype analysis identified eight haplotypes for the combined effect of the five SNP markers in the UNC13B gene. The haplotype GGCCG was significantly associated with an increased risk of DKD. CONCLUSIONS This was the first study to demonstrate an association between UNC13B gene polymorphisms and the susceptibility to DKD in a Chinese Han population with T2DM. The haplotype GGCCG was significantly associated with an increased risk of DKD. The findings highlight the joint effect of SNP markers in the pathogenesis of DKD. FAU - Wang, Ya AU - Wang Y AD - Department of Endocrinology, Jingzhou First People's Hospital, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei, China (mainland). FAU - Tan, Jie AU - Tan J AD - Department of Hematology, Jingzhou First People's Hospital, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei, China (mainland). FAU - Liu, Dan AU - Liu D AD - Department of Endocrinology, Jingzhou First People's Hospital, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei, China (mainland). FAU - Yang, Yameng AU - Yang Y AD - Department of Rheumatism and Immunology, Jingzhou First People's Hospital, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei, China (mainland). FAU - Wu, Hongyan AU - Wu H AD - Department of Endocrinology, Jingzhou First People's Hospital, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei, China (mainland). LA - eng PT - Journal Article DEP - 20191112 PL - United States TA - Med Sci Monit JT - Medical science monitor : international medical journal of experimental and clinical research JID - 9609063 RN - 0 (Nerve Tissue Proteins) RN - 0 (UNC13B protein, human) SB - IM MH - Adult MH - Aged MH - Alleles MH - Asian People/genetics MH - Case-Control Studies MH - China MH - Diabetes Mellitus, Type 2/genetics MH - Diabetic Nephropathies/*genetics MH - Ethnicity/genetics MH - Female MH - Gene Frequency/genetics MH - Genetic Predisposition to Disease MH - Genotype MH - Haplotypes/genetics MH - Humans MH - Male MH - Middle Aged MH - Nerve Tissue Proteins/*genetics/metabolism MH - Polymorphism, Single Nucleotide/genetics PMC - PMC6865244 EDAT- 2019/11/13 06:00 MHDA- 2020/03/24 06:00 PMCR- 2019/11/12 CRDT- 2019/11/13 06:00 PHST- 2019/11/13 06:00 [entrez] PHST- 2019/11/13 06:00 [pubmed] PHST- 2020/03/24 06:00 [medline] PHST- 2019/11/12 00:00 [pmc-release] AID - 919930 [pii] AID - 10.12659/MSM.919930 [doi] PST - epublish SO - Med Sci Monit. 2019 Nov 12;25:8527-8533. doi: 10.12659/MSM.919930.