Li Zhen, Shen Tingting, Xin Ran, Liang Baoyun, Jiang Juan, Ling Weijun, Wei Bo, Su Li
1School of Public Health,Guangxi Medical University,Nanning,Guangxi,China.
3First Affiliated Hospital,Guangxi University of Chinese Medicine,Nanning,Guangxi,China.
Acta Neuropsychiatr. 2017 Apr;29(2):87-94. doi: 10.1017/neu.2016.36. Epub 2016 Jul 27.
Schizophrenia (SZ) is suggested to be a complex polygenetic disorder with high heritability. Genome-wide association studies have found that the rs1635, rs11038167, and rs10489202 polymorphisms are associated with SZ in Han Chinese. However, results of validation studies are inconsistent. This study aimed to test the association between the NKAPL rs1635, TSPAN18 rs11038167, and MPC2 rs10489202 polymorphisms and SZ in a Chinese population.
This study contained 700 unrelated SZ patients (300 Zhuang and 400 Han) and 700 gender- and age-matched controls (300 Zhuang and 400 Han). The polymorphisms in TSPAN18 (rs11038167), NKAPL (rs1635), and MPC2 (rs10489202) were genotyped using the Sequenom MassARRAY method. Statistical analyses were performed with PLINK program and SPSS l6.0 for Windows. STATA11.1 was used for meta-analysis.
No statistically significant difference was found in different allele and genotype frequencies of rs1635, rs11038167, and rs10489202 between SZ cases and controls of Zhuang and Han ethnicities and the total samples (all p>0.05). Further meta-analysis suggested that single-nucleotide polymorphism rs10489202 was significantly associated with SZ in a Han Chinese population (p OR=0.002).
Our case-control study failed to validate the significant association of NKAPL rs1635, TSPAN18 rs11038167, and MPC2 rs10489202 polymorphisms with SZ susceptibility in the southern Zhuang or Han Chinese population. However, meta-analysis showed a significant association between MPC2 variant rs10489202 and SZ susceptibility in Han Chinese.
精神分裂症(SZ)被认为是一种具有高遗传度的复杂多基因疾病。全基因组关联研究发现,rs1635、rs11038167和rs10489202多态性与汉族人群的SZ相关。然而,验证研究的结果并不一致。本研究旨在检测中国人群中NKAPL rs1635、TSPAN18 rs11038167和MPC2 rs10489202多态性与SZ之间的关联。
本研究纳入700例无亲缘关系的SZ患者(300例壮族和400例汉族)以及700例性别和年龄匹配的对照(300例壮族和400例汉族)。采用Sequenom MassARRAY方法对TSPAN18(rs11038167)、NKAPL(rs1635)和MPC2(rs10489202)的多态性进行基因分型。使用PLINK程序和Windows版SPSS 16.0进行统计分析。采用STATA 11.1进行荟萃分析。
在壮族和汉族的SZ病例与对照以及总样本中,rs1635、rs11038167和rs10489202的不同等位基因和基因型频率均未发现统计学显著差异(所有p>0.05)。进一步的荟萃分析表明,单核苷酸多态性rs10489202与汉族人群的SZ显著相关(p OR=0.002)。
我们的病例对照研究未能验证NKAPL rs1635、TSPAN18 rs11038167和MPC2 rs10489202多态性与中国南方壮族或汉族人群SZ易感性之间的显著关联。然而,荟萃分析显示MPC2变异rs10489202与汉族人群的SZ易感性之间存在显著关联。