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Title: [Association of glutamate receptor metabotropic 5 polymorphisms with schizophrenia susceptibility in a Chinese Han population].
Author: Song M, Liu Y, Wang XJ, Zhang LW, Liu Q, Chen TF, Su X, Li WW, Lyu LX, Yang YF.
Journal: Zhonghua Yi Xue Za Zhi; 2022 Jul 19; 102(27):2108-2114. PubMed ID: 35844113.
Abstract:
Objectives: To investigate the association of single nucleotide polymorphisms (SNP) of glutamate receptor metabotropic 5 (GRM5) gene with schizophrenia susceptibility(SZ) in a Chinese Han population. Methods: Twenty-two SNPs located in GRM5 gene in 528 paranoid SZ patients and 528 control subjects recruited from northern Henanwere analyzed. The clinical features of 267 first-episode SZ patients were assessed with the Positive and Negative Syndrome Scale (PANSS). Results: The SZ group included 264 males and 264 females, aged (27±8) years; the healthy control group had 264 males and 264 females, aged (28±8) years.The differences in the genotypic and allelic frequencies of two SNPs (rs567990 and rs12421343) were statistically significant between the SZ patients and control groups (all P<0.05). The allele frequency of rs504183 was also statistically different between the two groups (P=0.030). When the subjects were stratified by sex, the genotypic and allelic frequencies of rs12421343 in female subjects were statistically different between the SZ patients and control groups. The allele frequencies of SNPs (rs12422021, rs567990, and rs7101540) were also statisticallydifferent between the two groups (all P<0.05). Meanwhile, rs567990 AG+GG carriers had a higher risk for SZ than AA carriers in female subjects(OR=1.946, 95%CI: 1.264-2.995). In addition, the patients with different genotypes (GG, AA+AG) of rs12422021 showed statistically significant differences in PANSS total score(84.8±24.4 vs 75.3±18.6), positive (16.2±4.3 vs 14.4±4.2), excitement (12.4±5.1 vs 10.2±4.1) and cognitive impairment factor scores (15.2±6.8 vs 13.3±3.9) (all P<0.05). The patients with AC and the other two genotypes (AA and CC) of rs504183 showed statistically significant differences in PANSS negative factor score(27.4±9.9 vs 24.7±8.4 and 23.4±8.1, both P<0.05). Conclusion: The current study provides further evidence that GRM5 is associated with SZ, and suggests a putative sex difference. 目的： 分析中国汉族人群基因GRM5的单核苷酸多态性（SNP）与精神分裂症（SZ）的关联。 方法： 2005年3月到2008年12月从河南北部募集528例偏执型SZ患者和528名健康对照，对位于GRM5基因的22个SNP进行了分析，另外通过阳性与阴性症状量表（PANSS）评定其中的267例首发SZ患者的临床症状。 结果： SZ组男264例，女264例，年龄（27±8）岁；健康对照组男264名，女264名，年龄（28±8）岁。SZ组和健康对照组SNPrs567990和rs12421343的基因型和等位基因频率比较，差异均具有统计学意义（均P<0.05）。两组间rs504183的等位基因频率比较，差异同样有统计学意义（P = 0.030）。将样本按照性别分类后，在两组女性受试者中，rs12421343的基因型和等位基因频率比较，差异均具有统计学意义（均P<0.05），rs12422021、rs567990和rs7101540的等位基因频率比较，差异同样具有统计学意义（均P<0.05）。并且，在女性受试者中，rs567990的AG+GG基因型携带者患SZ的风险高于AA基因型携带者（OR=1.946，95%CI：1.264~2.995）。另外，GRM5与SZ的临床特征关联，rs12422021不同基因型（GG、AA+AG）患者的PANSS总分［（84.8±24.4）分比（75.3±18.6）分］、阳性［（16.2±4.3）分比（14.4±4.2）分］、兴奋［（12.4±5.1）分比（10.2±4.1）分］、认知障碍因子分［（15.2±6.8）分比（13.3±3.9）分］的比较差异具有统计学意义（均P<0.05），rs504183的AC型与另外两种基因型（AA和CC）患者的阴性因子分［（27.4±9.9）分比（24.7±8.4）分和（23.4±8.1）分］差异具有统计学意义（均P<0.05）。 结论： 进一步证明了GRM5基因与SZ相关，并且可能存在性别差异。.

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