Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population
Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population
复制标题
先前 GWAS 命中的复制表明 MSNP1AS 附近的 rs4307059 与中国汉族人群中的自闭症之间存在关联
DOI：
10.1016/j.pnpbp.2018.12.016
复制
发表时间：
2019-06
影响因子：
5.6
通讯作者：
Lifang Wang
中科院分区：
文献类型：
--
作者：
Ziqi Wang;Jishui Zhang;Tianlan Lu;Tian Zhang;Meixiang Jia;Yanyan Ruan;Dai Zhang;Jun Li;Lifang Wang
孤独症是一种复杂的神经发育障碍，具有高度遗传性。以前的全基因组关联研究（GWAS）表明，一些单核苷酸多态性（SNP）与自闭症显著相关，而其他研究集中在这些GWAS命中显示不一致的结果。此外，这些变异与中国汉族人群中自闭症之间的关联仍不清楚。因此，本研究在640例中国汉族孤独症三人组中进行了以家庭为基础的关联研究，以探讨孤独症与先前GWAS中具有全基因组意义的7个SNP的关联（MSNP1AS附近的rs4307059，MACROD2中的rs4141463，ITIH3中的rs2535629，AS3MT中的rs11191454，MIR137HG中的rs1625579，NT5C2中的rs11191580和CUEDC 2中的rs1409313）。结果显示rs4307059的T等位基因与孤独症在加性模型（T> C，Z = 2.250，P =.024）和隐性模型（T> C，Z = 2.109，P =.035）下均存在名义关联。这些发现为rs4307059 nearMSNP1AS可能是中国汉族人群中自闭症的易感变异提供了证据。
Autism is a complex neurodevelopmental disorder with high heritability. Previous genome-wide association studies (GWAS) demonstrated that some single-nucleotide polymorphisms (SNPs) were significantly associated with autism, while other studies focusing on these GWAS hits showed inconsistent results. Besides, the association between these variants and autism in the Chinese Han population remains unclear. Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS,rs4141463 inMACROD2, rs2535629 in ITIH3, rs11191454 inAS3MT, rs1625579 inMIR137HG, rs11191580 inNT5C2, and rs1409313 inCUEDC2). The results showed a nominal association between the T allele of rs4307059 and autism under both additive model (T>C,Z= 2.250,P= .024) and recessive model (T>C,Z= 2.109,P= .035). The findings provided evidence that rs4307059 nearMSNP1ASmight be a susceptibility variant for autism in the Chinese Han population.
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影响因子：
6.2
作者：
Jonsson L;Zettergren A;Pettersson E;Hovey D;Anckarsäter H;Westberg L;Lichtenstein P;Lundström S;Melke J
通讯作者：
Melke J
影响因子：
6.2
作者：
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium
通讯作者：
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium
影响因子：
0.9
作者：
Jones RM;Cadby G;Blangero J;Abraham LJ;Whitehouse AJO;Moses EK
通讯作者：
Moses EK
影响因子：
0.9
作者：
Subin Park;Jong-Eun Park;H. Yoo;Jae-Won Kim;Soo-Churl Cho;M. Shin;J. Cheong;D. Han;Bung-Nyun Kim-Bun
通讯作者：
Subin Park;Jong-Eun Park;H. Yoo;Jae-Won Kim;Soo-Churl Cho;M. Shin;J. Cheong;D. Han;Bung-Nyun Kim-Bun
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M