Fu Yingli, Ren Xiaojun, Bai Wei, Yu Qiong, Sun Yaoyao, Yu Yaqin, Zhou Na
Division of Clinical Research, First Hospital of Jilin University, Changchun, Jilin, China.
Department of Epidemiology and Biostatistics, Jilin University, School of Public Health, Changchun, Jilin, China.
PeerJ. 2021 Aug 20;9:e11907. doi: 10.7717/peerj.11907. eCollection 2021.
Schizophrenia is a severely multifactorial neuropsychiatric disorder, and the majority of cases are due to genetic variations. In this study, we evaluated the genetic association between the C-Maf-inducing protein ( gene and schizophrenia in the Han Chinese population.
In this case-control study, 761 schizophrenia patients and 775 healthy controls were recruited. Tag single-nucleotide polymorphisms (SNPs; rs12925980, rs2287112, rs3751859 and rs77700579) from the gene were genotyped matrix-assisted laser desorption/ionization time of flight mass spectrometry. We used logistic regression to estimate the associations between the genotypes/alleles of each SNP and schizophrenia in males and females, respectively. The in-depth link between and schizophrenia was explored through linkage disequilibrium (LD) and further haplotype analyses. False discovery rate correction was utilized to control for Type I errors caused by multiple comparisons.
There was a significant difference in rs287112 allele frequencies between female schizophrenia patients and healthy controls after adjusting for multiple comparisons ( = 12.296, = 0.008). Females carrying minor allele G had 4.445 times higher risk of schizophrenia compared with people who carried the T allele ( = 4.445, 95% CI [1.788-11.046]). Linkage-disequilibrium was not observed in the subjects, and people with haplotype TTGT of rs12925980-rs2287112-rs3751859-rs77700579 had a lower risk of schizophrenia ( = 0.42, 95% CI [0.19-0.94]) when compared with CTGA haplotypes. However, the association did not survive false discovery rate correction.
This study identified a potential variant that may confer schizophrenia risk in the female Han Chinese population.
精神分裂症是一种严重的多因素神经精神疾病，大多数病例是由基因变异引起的。在本研究中，我们评估了C-Maf诱导蛋白（基因）与汉族人群精神分裂症之间的基因关联。
在这项病例对照研究中，招募了761名精神分裂症患者和775名健康对照。采用基质辅助激光解吸电离飞行时间质谱法对该基因的标签单核苷酸多态性（SNPs；rs12925980、rs2287112、rs3751859和rs77700579）进行基因分型。我们分别使用逻辑回归来估计每个SNP的基因型/等位基因与男性和女性精神分裂症之间的关联。通过连锁不平衡（LD）和进一步的单倍型分析来探索该基因与精神分裂症之间的深入联系。采用错误发现率校正来控制多重比较导致的I型错误。
在进行多重比较校正后，女性精神分裂症患者与健康对照之间rs287112等位基因频率存在显著差异（χ² = 12.296，P = 0.008）。携带次要等位基因G的女性患精神分裂症的风险是携带T等位基因者的4.445倍（OR = 4.445，95% CI [1.788 - 11.046]）。在研究对象中未观察到连锁不平衡，rs12925980 - rs2287112 - rs3751859 - rs77700579的单倍型TTGT的个体患精神分裂症的风险低于CTGA单倍型个体（OR = 0.42，95% CI [0.19 - 0.94]）。然而，该关联在错误发现率校正后未通过检验。
本研究确定了一个潜在的基因变异，可能使汉族女性人群具有患精神分裂症的风险。
