|The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population|
|Yang, Wen1,2; Liu, Jing1,2; Zheng, Fanfan1,2; Jia, Meixiang1,2; Zhao, Linnan1,2; Lu, Tianlan1,2; Ruan, Yanyan1,2; Zhang, Jishui3; Yue, Weihua1,2; Zhang, Dai1,2,4; Wang, Lifang1,2|
|WOS标题词||Science & Technology|
|研究领域[WOS]||Science & Technology - Other Topics|
|关键词[WOS]||PLASMA-MEMBRANE CA2+-ATPASE ; PERVASIVE DEVELOPMENTAL DISORDERS ; COMMON GENETIC-VARIANTS ; GENOME-WIDE ; LINKAGE DISEQUILIBRIUM ; DISEASE GENES ; RAT-BRAIN ; SPECTRUM DISORDERS ; INFANTILE-AUTISM ; COMPLEX DISEASES|
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 Ca2+ 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.
|项目编号||2010CB833905 ; 81071110|
|资助机构||National Basic Research Development Program of China (973 program) ; National Natural Science Foundation|
|作者单位||1.Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China|
2.Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100871, Peoples R China
3.Capital Univ Med Sci, Beijing Childrens Hosp, Beijing, Peoples R China
4.Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China
|Yang, Wen,Liu, Jing,Zheng, Fanfan,et al. The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population[J]. PLOS ONE,2013,8(4).|
|APA||Yang, Wen.,Liu, Jing.,Zheng, Fanfan.,Jia, Meixiang.,Zhao, Linnan.,...&Wang, Lifang.(2013).The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population.PLOS ONE,8(4).|
|MLA||Yang, Wen,et al."The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population".PLOS ONE 8.4(2013).|