An association study between IL1RAPL2 gene and non-specific mental retardation in Chinese children

作者：Zhang, Ke-Jin; He, Bo; Gong, Ping-Yuan; Gao, Xiao-Cai; Zheng, Zi-Jian; Huang, Shao-Ping; Zhang, Fu-Chang^*

来源：Genes & Genomics, 2010, 32(2): 159-164.

DOI：10.1007/s13258-009-0845-4

• Non-specific mental retardation
• Molecular genetics
• Association analysis
• Genetic variants

Non-specific mental retardation (NSMR) is one of common children psychiatric diseases with a high prevalence (1-3%). Here we investigated the association between the genetic variants of IL1RAPL2 gene and NSMR in the children of QinBa region of China. We chose five common SNPs of IL1RAPL2, examined their individual genotype frequencies using the conventional polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) method, and evaluated the association between these genetic polymorphisms and NSMR with the suitable biostatistic software. The allele and genotype distributions of two SNPs (rs5962298 and rs9887672) showed significant differences between the control and NSMR groups (allele: p = 0.020 and 0.017; genotype: p = 0.025 for rs9887672 respectively). The distribution differences became more significant in girls, but disappeared in boys, suggesting a gender effect. Taken together, we provide substantial evidence that IL1RAPL2 conferred a NSMR susceptibility to children of Qinba region in China. In future, further work should be carried out to scan mutations and to investigate the specific-gender effect in this gene.

• 出版日期2010-4
• 单位西北大学; 西安交通大学