The present study investigated the association between the genetic variants of IL1RAPL2 gene and Non-syndromic mental retardation (NSMR) in the children of QinBa region of China. Five common SNPs (rs5962434, rs5916817, rs3764765, and rs5962298 and rs9887672) of IL1RAPL2 were chosen and 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 bio-statistic software. Two SNPs (rs5962298 and rs9887672), whose alleles and genotypes distribution showed a significant differences between the control and NSMR groups (alleles: p = 0.020 and 0.017; genotypes: p = 0.025 and 0.053, respectively). Furthermore, the different gender effect was found out, when stratified the data set by the sex. Taken together, we provided substantial evidence that IL1RAPL2 conferred a NSMR susceptibility to children of Qinba region in China, and further work should been done.
Key words: Non-syndromic mental retardation, molecular genetics, association analysis, genetic variants
NSMR, nonspecific mental retardation; Co, controls
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