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Background  Autism is a neurodevelopmental disorder with a high estimated heritability.  ATP2B2 , located on human chromosome 3p25.3, encodes the plasma membrane calcium-transporting ATPase 2 which extrudes Ca 2+  from cytosol into extracellular space. Recent studies reported association between  ATP2B2  and autism in samples from Autism Genetic Resource Exchange (AGRE) and Italy. In this study, we investigated whether  ATP2B2  polymorphisms were associated with autism in Chinese Han population.    Methods  We performed a family based association study between five SNPs (rs35678 in exon, rs241509, rs3774180, rs3774179, and rs2278556 in introns) in  ATP2B2  and autism in 427 autism trios of Han Chinese descent. All SNPs were genotyped using the Sequenom genotyping platform. The family-based association test (FBAT) program was used to perform association test for SNPs and haplotype analyses.    Results  This study demonstrated a preferential transmission of T allele of rs3774179 to affected offsprings under an additive model (T>C, Z = 2.482,  p  = 0.013). While C allele of rs3774179 showed an undertransmission from parents to affected children under an additive and a dominant model, respectively (Z = −2.482,  p  = 0.013; Z = −2.591,  p  = 0.0096). Haplotype analyses revealed that three haplotypes were significantly associated with autism. The haplotype C-C (rs3774180–rs3774179) showed a significant undertransmission from parents to affected offsprings both in specific and global haplotype FBAT (Z = −2.037,  p  = 0.042; Global  p  = 0.03). As for the haplotype constructed by rs3774179 and rs2278556, C-A might be a protective haplotype (Z = −2.206,  p  = 0.027; Global  p  = 0.04), while T-A demonstrated an excess transmission from parents to affected offsprings (Z = 2.143,  p  = 0.032). These results were still significant after using the permutation method to obtain empirical  p  values.    Conclusions  Our research suggested that  ATP2B2  might play a role in the etiology of autism in Chinese Han population.

The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population