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学科主题: 精神卫生
题名:
The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population
作者: 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
刊名: PLOS ONE
发表日期: 2013-04-19
DOI: 10.1371/journal.pone.0061021
卷: 8, 期:4
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
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
英文摘要:

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.

语种: 英语
所属项目编号: 2010CB833905 ; 81071110
项目资助者: National Basic Research Development Program of China (973 program) ; National Natural Science Foundation
WOS记录号: WOS:000317909500007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55863
Appears in Collections:北京大学精神卫生研究所_期刊论文

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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

Recommended Citation:
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).
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