Gozukara Bag Harika Gozde
Faculty of Medicine, Department of Biostatistics & Medical Informatics, Inonu University, Malatya, Turkey.
Mol Genet Genomic Med. 2018 Sep;6(5):845-854. doi: 10.1002/mgg3.468. Epub 2018 Aug 30.
There are many studies with different results that examine the association between Catechol-O-MethylTransferase (COMT) gene single-nucleotide polymorphisms (SNPs) and schizophrenia. In this study, the aim was to conduct a meta-analysis to achieve a pooled effect size of the association between COMT gene rs165599 SNP and schizophrenia.
Odds ratio (OR) was used as an effect size to determine the association between schizophrenia and the SNP. The pooled ORs were achieved under four different genetic models. When the heterogeneity among studies was high the DerSimonian-Laird random-effects model, otherwise the Mantel-Haenszel fixed-effects model was used. Publication bias was evaluated by Egger's test.
Under different genetic models no statistically significant association was found between rs165599 SNP and schizophrenia by meta-analyses consist of 20 independent studies. There was high heterogeneity among studies, for the possible reason the population differences, although the subgroup analyzes reduced the heterogeneity, no association was obtained. However, the sex-specific estimation of the females showed that to be a G allele carrier is a risk factor for schizophrenia (OR = 1.366 [95% confidence interval = 1.094-1.706]) compared to AA homozygous.
The COMT gene rs165599 SNP does not appear to be a single-risk factor for schizophrenia.
有许多研究探讨儿茶酚-O-甲基转移酶（COMT）基因单核苷酸多态性（SNP）与精神分裂症之间的关联，结果各异。本研究旨在进行一项荟萃分析，以得出COMT基因rs165599 SNP与精神分裂症关联的合并效应量。
采用优势比（OR）作为效应量来确定精神分裂症与该SNP之间的关联。在四种不同的遗传模型下得出合并OR值。当研究间异质性较高时，使用DerSimonian-Laird随机效应模型，否则使用Mantel-Haenszel固定效应模型。通过Egger检验评估发表偏倚。
通过对20项独立研究进行的荟萃分析，在不同遗传模型下，未发现rs165599 SNP与精神分裂症之间存在统计学显著关联。研究间存在高度异质性，可能原因是人群差异，尽管亚组分析降低了异质性，但仍未得出关联。然而，对女性的性别特异性估计显示，与AA纯合子相比，成为G等位基因携带者是精神分裂症的一个危险因素（OR = 1.366 [95%置信区间 = 1.094 - 1.706]）。
COMT基因rs165599 SNP似乎不是精神分裂症的单一危险因素。
