Peking University Sixth Hospital, Beijing 100191, China; Peking University Institute of Mental Health, Beijing 100191, China; NHC Key Laboratory of Mental Health (Peking University), Beijing 100191, China; National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing 100191, China.
Department of Mental Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China; National Center for Children's Health, Beijing 100045, China.
Prog Neuropsychopharmacol Biol Psychiatry. 2019 Jun 8;92:194-198. doi: 10.1016/j.pnpbp.2018.12.016. Epub 2019 Jan 3.
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 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2). 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 near MSNP1AS might be a susceptibility variant for autism in the Chinese Han population.
自闭症是一种具有高度遗传性的复杂神经发育障碍。先前的全基因组关联研究（GWAS）表明，一些单核苷酸多态性（SNPs）与自闭症显著相关，而其他专注于这些 GWAS 命中的研究则显示出不一致的结果。此外，这些变体与中国汉族人群中自闭症之间的关联尚不清楚。因此，本研究进行了一项基于家系的关联研究，共纳入 640 个中国汉族自闭症三核苷酸，旨在调查先前 GWAS 中具有全基因组意义的 7 个 SNPs（rs4307059 附近的 MSNP1AS、MACROD2 中的 rs4141463、ITIH3 中的 rs2535629、AS3MT 中的 rs11191454、MIR137HG 中的 rs1625579、NT5C2 中的 rs11191580 和 CUEDC2 中的 rs1409313）与自闭症之间的关联。结果表明，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，rs4307059 的 T 等位基因与自闭症之间存在名义关联。这些发现提供了证据，表明 MSNP1AS 附近的 rs4307059 可能是中国汉族人群自闭症的易感变体。
