Autism spectrum disorder (ASD) has been shown to have a complex inheritance. Several single-nucleotide polymorphisms (SNPs) have been shown to be associated with risk of this neurodevelopmental disorder. In the current study, we genotyped four SNPs in a genomic hotspot for human disorders. The selected SNPs were located in adjacency of the antisense noncoding RNA in the INK4 locus (ANRIL) and have been shown to be associated with a number of human disorders. Genotyping was performed in 420 ASD cases and 420 normally developed children. After correction of P values for multiple comparisons, there was no significant difference in frequencies of rs1333045, rs1333048, rs4977574, and rs10757278 alleles, genotypes, or haplotypes between ASD children and children with normal development. However, one estimated haplotype (T A A A haplotype corresponding to rs1333045, rs1333048, rs4977574, and rs10757278 SNPs, respectively) tended to be more prevalent among cases compared with controls (OR (95% CI) = 1.77 (1.19–2.64), adjusted P value = 0.07). Besides, the T A G G tended to be less common among ASD cases compared with controls (OR (95% CI) = 0.64 (0.47–0.87), adjusted P value = 0.07). Although we could not detect significant difference in alleles, genotypes, or haplotypes frequencies between cases and controls, the trend toward association between two haplotypes and ASD risk implies that there might be a putative causative variant in the mentioned haplotypes whose association with ASD could be determined in larger cohorts of patients.

自闭症谱系障碍 (ASD) 已被证明具有复杂的遗传。几种单核苷酸多态性 (SNP) 已被证明与这种神经发育障碍的风险有关。在当前的研究中，我们对人类疾病基因组热点中的四个 SNP 进行了基因分型。选定的 SNP 位于 INK4 基因座 ( ANRIL ) 中反义非编码 RNA 的相邻区域，并且已被证明与许多人类疾病有关。对 420 名 ASD 病例和 420 名正常发育的儿童进行了基因分型。P修正后根据多重比较值，ASD 儿童与正常发育儿童在 rs1333045、rs1333048、rs4977574 和 rs10757278 等位基因、基因型或单倍型的频率上没有显着差异。然而，与对照相比，一种估计的单倍型（分别对应于 rs1333045、rs1333048、rs4977574 和 rs10757278 SNP 的 TAAA 单倍型）在病例中往往更普遍（OR (95% CI) = 1.77 (1.19), 6 P调整后）。值 = 0.07）。此外，与对照组相比，TAGG 在 ASD 病例中不太常见（OR (95% CI) = 0.64 (0.47–0.87)，调整后的 P 值 = 0.07）。尽管我们无法检测到病例和对照之间的等位基因、基因型或单倍型频率的显着差异，但两种单倍型与 ASD 风险之间的关联趋势表明，在上述单倍型中可能存在一个推定的致病变异，其与 ASD 的关联可以确定在更大的患者队列中。