Department of Psychiatry, Hamad Medical Corporation, Doha, Qatar.
Asia Pac Psychiatry. 2013 Mar;5(1):17-23. doi: 10.1111/appy.12014. Epub 2012 Nov 21.
Previous reports have found that polymorphisms in the close homologue of L1 (CHL1) gene located on chromosome 3p26 are associated with schizophrenia among different ethnic populations. The aim of this study was to examine the associations of single nucleotides polymorphisms (SNPs) of the CHL1 gene locus, including rs2055314 (C/T), rs2272522 (C/T) and rs331894 (A/G), with schizophrenia in the Qatari population.
An association case control study was carried out on 86 Qatari schizophrenic patients from the Psychiatry Hospital, Hammed Medical Corporation, Qatar and 88 Qatari unrelated, healthy, control subjects. Schizophrenia was diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders - Fourth Edition (DSM-IV) criteria for schizophrenia by two independent psychiatrists. Genotyping of the SNPs rs2055314 (C/T), rs2272522 (C/T) and rs331894 (A/G) was conducted using the 5' nuclease assay with the TaqMan MGB probe and an ABI 7500.
Individuals with the rs2272522 TT genotype had approximately 4.2 times greater risk of schizophrenia compared to individuals with the CC genotype (OR = 4.21; 95% CI: 1.12-15.53; P = 0.047). In addition, individuals carrying a T allele of the rs2272522 SNP had a significantly increased risk of schizophrenia (1.78 times) among the population (P = 0.028). SNPs rs2055314 and rs331894 had no significant association with schizophrenia. Pairwise linkage disequilibrium (LD) between the three polymorphisms was modest in the schizophrenic group.
The rs2272522 polymorphism was found to exhibit a highly significant association with schizophrenia in the Qatari population. This finding supports the hypothesis that cell adhesion molecules may be involved in the etiology of this disease among Qatari patients.
先前的研究报告发现，位于 3p26 染色体上的紧密同源物 L1（CHL1）基因的多态性与不同种族人群的精神分裂症有关。本研究的目的是检验 CHL1 基因座的单核苷酸多态性（SNP），包括 rs2055314（C/T）、rs2272522（C/T）和 rs331894（A/G）与卡塔尔人群精神分裂症之间的关联。
对来自卡塔尔 Hammed 医疗公司精神病院的 86 例卡塔尔精神分裂症患者和 88 例无关的健康对照进行了关联病例对照研究。根据两位独立的精神科医生的精神障碍诊断与统计手册-第四版（DSM-IV）精神分裂症标准对精神分裂症进行诊断。使用 5'核酸酶检测与 TaqMan MGB 探针和 ABI 7500 对 SNPs rs2055314（C/T）、rs2272522（C/T）和 rs331894（A/G）进行基因分型。
与 CC 基因型相比，rs2272522 TT 基因型个体患精神分裂症的风险大约增加了 4.2 倍（OR=4.21；95%CI：1.12-15.53；P=0.047）。此外，在人群中，携带 rs2272522 SNP 的 T 等位基因的个体患精神分裂症的风险显著增加（1.78 倍）（P=0.028）。SNP rs2055314 和 rs331894 与精神分裂症无显著关联。在精神分裂症组中，这三个多态性之间的连锁不平衡（LD）程度适中。
在卡塔尔人群中，发现 rs2272522 多态性与精神分裂症存在高度显著关联。这一发现支持了细胞粘附分子可能参与卡塔尔患者疾病发病机制的假说。
