Sudesh Ravi, Priyadarshini Thirunavukkarasu, Preeti Rajendran, John Sujit, Thara Rangaswamy, Mowry Bryan, Munirajan Arasamabattu Kannan
Department of Genetics, University of Madras, Dr. ALM PG Institute of Basic Medical Sciences, Taramani Campus, Chennai, 600 113, India.
Schizophrenia Research Foundation, Chennai, 600 101, India.
Neurosci Lett. 2017 May 10;649:107-111. doi: 10.1016/j.neulet.2017.04.008. Epub 2017 Apr 4.
Schizophrenia (SCZ) as a severe and complex neuropsychiatric disorder and is characterized by positive symptoms, negative symptoms and cognitive dysfunctions. Genome-wide association studies (GWAS) have identified a strong association between the single nucleotide polymorphism (SNP) rs12807809 upstream of Neurogranin (NRGN) in a European population. This evidence prompted us to conduct an association study among 1005 schizophrenia cases and 1069 controls in a South Indian Population using TaqMan Allelic discrimination method. We observed an association of rs12807809 with SCZ in this study population. Allele frequencies and genotype frequencies of rs12807809 showed significant differences between cases and control subjects [p=0.0019; OR=0.69; 95% CI=(0.55-0.87)] and (p=0.0062). Further Genotype-Phenotype correlation revealed a moderate association of rs12807809 with flat affect (p=0.039) and Hallucinations (p=0.012). The ancestral non-risk C allele contributes to the severity of psychosis (p=0.039) in this population.
精神分裂症（SCZ）是一种严重且复杂的神经精神疾病，其特征为阳性症状、阴性症状和认知功能障碍。全基因组关联研究（GWAS）已在欧洲人群中确定了神经颗粒素（NRGN）上游的单核苷酸多态性（SNP）rs12807809之间存在强关联。这一证据促使我们在印度南部人群中，使用TaqMan等位基因鉴别方法，对1005例精神分裂症病例和1069名对照进行关联研究。在本研究人群中，我们观察到rs12807809与SCZ之间存在关联。rs12807809的等位基因频率和基因型频率在病例组和对照组之间存在显著差异[p = 0.0019；OR = 0.69；95%CI =（0.55 - 0.87）]以及（p = 0.0062）。进一步的基因型-表型相关性显示，rs12807809与情感平淡（p = 0.039）和幻觉（p = 0.012）之间存在中度关联。在该人群中，祖先非风险C等位基因会导致精神病的严重程度增加（p = 0.039）。
