Wu Lijun, Gao Liwang, Zhao Xiaoyuan, Zhang Meixian, Wu Jianxin, Mi Jie
Department of Epidemiology, Capital Institute of Pediatrics, Beijing, China.
Department of Biochemistry, Capital Institute of Pediatrics, Beijing, China.
BMJ Open. 2017 Sep 11;7(9):e016241. doi: 10.1136/bmjopen-2017-016241.
Coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), a mitochondrial protein, is involved in the oxidative folding process in the mitochondrial intermembrane space. A previous study identified a hypertension-related single nucleotide polymorphism (SNP), rs3748024, in in adults, but there are no reports regarding the association between and obesity, which is a known risk factor for hypertension. The aim of the present study is to investigate the associations of the SNP rs3748024 with hypertension and obesity.
Cohort study.
Institute of Pediatrics in China.
We genotyped the SNP rs3748024 in the Beijing Child and Adolescent Metabolic Syndrome study. A total of 3503 children participated in the study.
Genotyping of rs3748024 was conducted using the TaqMan Allelic Discrimination Assay. Lipids and glucose were analysed by an automatic biochemical analyser using a kit assay. The levels of adipocytokines (leptin, adiponectin and resistin) were measured by ELISA techniques.
There was a statistically significant association between rs3748024 and systolic blood pressure (SBP) (β=-0.853, 95% CI -1.482 to -0.024, p=0.044) under an additive model adjusted for age, gender and body mass index (BMI) after correction for multiple testing. The SNP was also significantly associated with BMI (β=-0.286, 95% CI -0.551 to -0.021, p=0.043), obesity (OR=0.828, 95% CI 0.723 to 0.949, p=0.018) and triglycerides (β=-0.039, 95% CI -0.070 to -0.007, p=0.044) after correction for multiple testing.
We demonstrate for the first time that the SNP rs3748024 in is associated with SBP, BMI, obesity and triglycerides in Chinese children. Our study identifies a new risk locus for hypertension and obesity in a child population. The function of CHCHD5 remains to be further studied to help elucidate the pathogenic role of CHCHD5 in hypertension and obesity.
含卷曲螺旋-螺旋-卷曲螺旋-螺旋结构域5（CHCHD5）是一种线粒体蛋白，参与线粒体内膜间隙的氧化折叠过程。先前的一项研究在成年人中发现了一个与高血压相关的单核苷酸多态性（SNP），即rs3748024，但尚无关于该SNP与肥胖之间关联的报道，而肥胖是已知的高血压危险因素。本研究的目的是调查SNP rs3748024与高血压和肥胖之间的关联。
队列研究。
中国儿科研究所。
我们在北京儿童和青少年代谢综合征研究中对SNP rs3748024进行了基因分型。共有3503名儿童参与了该研究。
使用TaqMan等位基因鉴别分析对rs3748024进行基因分型。使用试剂盒通过自动生化分析仪分析血脂和血糖。采用酶联免疫吸附测定技术测量脂肪细胞因子（瘦素、脂联素和抵抗素）水平。
在校正多重检验后，在根据年龄、性别和体重指数（BMI）进行调整的加性模型下，rs3748024与收缩压（SBP）之间存在统计学显著关联（β=-0.853，95%可信区间-1.482至-0.024，p=0.044）。在校正多重检验后，该SNP还与BMI（β=-0.286，95%可信区间-0.551至-0.021，p=0.043）、肥胖（比值比=0.828，95%可信区间0.723至0.949，p=0.018）和甘油三酯（β=-0.039，95%可信区间-0.070至-0.007，p=0.044）显著相关。
我们首次证明，CHCHD5基因中的SNP rs3748024与中国儿童的收缩压、BMI、肥胖和甘油三酯有关。我们的研究在儿童群体中确定了一个新的高血压和肥胖风险位点。CHCHD5的功能仍有待进一步研究，以帮助阐明CHCHD5在高血压和肥胖中的致病作用。
