Niu Qing, Zhang Wanlin, Wang Hailing, Guan Xiaomin, Lu Jianxin, Li Wei
Zhejiang Provincial Key Laboratory of Medical Genetics, Department of Biochemistry and Molecular Biology, Wenzhou Medical University School of Laboratory Medicine and Life Sciences, Wenzhou, Zhejiang 325025, P.R. China.
Exp Ther Med. 2015 Nov;10(5):1918-1924. doi: 10.3892/etm.2015.2751. Epub 2015 Sep 17.
A case-control study was conducted with the aim of identifying the predominant haplogroups associated with type 2 diabetes mellitus (T2DM) and its complications. In addition, the role of N9a in T2DM risk and complications was analyzed. Sequencing of the entire mitochondrial DNA was conducted in 235 patients and 244 controls in cohort 1, and six haplogroups (F, B4, D4, D5, M8a and N9a) associated with T2DM were classified. The frequency of N9a was further determined in cohort 2 (440 patients and 244 controls) and examined in two combined cohorts, including 675 patients with T2DM and 649 non-diabetic controls. Multivariate logistic regression analysis and association analysis were performed to investigate the association between genotypes, T2DM and diabetic nephropathy. M8a [P=0.011; odds ratio (OR), 3.49; 95% confidence interval (CI), 1.26-9.69] and haplogroup N9a (P=0.023; OR, 2.60; 95% CI, 1.11-6.05) were associated with an increased risk of T2DM. The frequency of N9a was higher in T2DM patients compared with that in the controls (6.2% vs. 4.3%) and associated with a mild risk (P=0.10; OR, 1.51; 95% CI, 0.92-2.49). N9a was significantly associated with an increased risk of diabetic nephropathy (P=0.024; OR, 2.15; 95% CI, 1.11-4.19). Previous findings of N9a being protective against T2DM were not replicated in the present study, although this haplogroup was associated with an increased risk of diabetic nephropathy.
开展了一项病例对照研究，旨在确定与2型糖尿病（T2DM）及其并发症相关的主要单倍群。此外，分析了N9a在T2DM风险和并发症中的作用。对队列1中的235例患者和244例对照进行了全线粒体DNA测序，并对与T2DM相关的6个单倍群（F、B4、D4、D5、M8a和N9a）进行了分类。在队列2（440例患者和244例对照）中进一步确定了N9a的频率，并在两个合并队列中进行了检测，包括675例T2DM患者和649例非糖尿病对照。进行多因素逻辑回归分析和关联分析，以研究基因型、T2DM和糖尿病肾病之间的关联。M8a[P=0.011；优势比（OR），3.49；95%置信区间（CI），1.26 - 9.69]和单倍群N9a（P=0.023；OR，2.60；95%CI，1.11 - 6.05）与T2DM风险增加相关。与对照组相比，T2DM患者中N9a的频率更高（6.2%对4.3%），且与轻度风险相关（P=0.10；OR，1.51；95%CI，0.92 - 2.49）。N9a与糖尿病肾病风险增加显著相关（P=0.024；OR，2.15；95%CI，1.11 - 4.19）。尽管该单倍群与糖尿病肾病风险增加相关，但本研究未重复先前关于N9a对T2DM有保护作用的发现。
