ASH1L may contribute to the risk of Tourette syndrome: Combination of family‐based analysis and case–control study

Autor: Wenmiao Liu, Lulu Xu, Cheng Zhang, Lu Shen, Jicheng Dong, Han Zhang, Shiguo Liu, Fengyuan Che, Xueping Zheng
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Brain and Behavior, Vol 12, Iss 4, Pp n/a-n/a (2022)
Druh dokumentu: article
ISSN: 2162-3279
DOI: 10.1002/brb3.2539
Popis: Abstract Objective Tourette syndrome (TS) is a childhood neurodevelopmental disorder caused by various genetic and environmental factors and presents with apparent genetic heterogeneity. As ASH1L potentially contributes to neurodevelopmental diseases, especially in TS, we aim to investigate the susceptibility of ASH1L on TS in the Chinese Han population. Methods Three tag single nucleotide polymorphisms (SNPs) (rs5005770, rs12734374, and rs35615695) in ASH1L were screened in 271 TS nuclear family trios and 337 healthy subjects by the TaqMan assays real time. A case–control study combined with family‐based analysis was applied to study the genetic susceptibility of common variants of ASH1L. Results The results revealed a significant over‐transmission of rs35615695 and rs5005770 (for rs35615695, transmission disequilibrium test, χ2 = 57.375, p = .000, HHRR, χ2 = 4.807, p = .028; for rs5005770, HRR, χ2 = 4.116, p = .042, HHRR, χ2 = 8.223, p = .004) in family‐based study. Furthermore, rs5005770 and rs35615695 still remained significant after Bonferroni correction (p
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