DIP2B Gene Polymorphisms Are Associated with Susceptibility and Clinical Phenotypes of Autism Spectrum Disorder
Yan Li et al.
What the paper says
Objectives: The earliest age suitable for definitive identification of autism spectrum disorder (ASD) through diagnostic assessment is substantially unreliable. The associations between single nucleotide polymorphisms (SNPs) and ASD susceptibility offer a chance for early intervention of ASD children in the infant stage. Disco-interacting protein 2 homolog B gene ( DIP2B) has recently been reported to be associated with neurological diseases. Method: We conducted a case-control (242 controls and 231 cases) study to investigate the associations of six SNPs (rs79564340, rs11169524, rs3803181, rs2280503, rs1047912, and rs4768915) of DIP2B with ASD risk and ASD phenotypes. The genotyping of SNP was determined by MALDI-TOF-MS. Results: We identified that rs3803181 and rs4768915 are significantly associated with ASD. Of note, ASD risk is associated with the haplotypes (those with rs11169524 [A allele] and rs79564340 [T allele] of DIP2B); Moreover, rs11169524 and rs2280503 of DIP2B are specifically associated with the “Adapt to changes in the environment” phenotype, and rs1047912 is specifically associated with the “Nonverbal communication” and “Sensory ability” phenotypes of ASD (all p < .05). Conclusions: The findings indicate that DIP2B is a susceptibility gene for ASD as well as ASD clinical phenotypes in the Chinese Han population.
Evidence weight
Balanced mode · F 0.40 / M 0.15 / V 0.05 / R 0.40
| F · citation impact | 0.50 × 0.4 = 0.20 |
| M · momentum | 0.50 × 0.15 = 0.07 |
| V · venue signal | 0.50 × 0.05 = 0.03 |
| R · text relevance † | 0.50 × 0.4 = 0.20 |
† Text relevance is estimated at 0.50 on the detail page — for your query’s actual relevance score, open this paper from a search result.