Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang 50275, Central Java, Indonesia.
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Int J Mol Sci. 2024 Jul 25;25(15):8103. doi: 10.3390/ijms25158103.
In this study, the potential role and interaction of the and genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and radiological criteria. Males with the premutation (PM) over 50 years, 165 with and 34 without an FXTAS diagnosis, were included in this study and were compared based on their () and variant () genotypes. The effect of on FXTAS stage and on diagnosis did not differ significantly by KL-VS genotype with interaction effect = 0.662 and = 0.91, respectively. In the FXTAS individuals with an allele, a marginal significance was observed towards a larger decline in verbal IQ (VIQ) in individuals with an allele compared to those without an allele ( = 0.071). In conclusion, our findings suggest that the and genotypes alone or through their interaction effect do not appear to predispose to either FXTAS diagnosis or stage in male carriers of the PM allele. A further study is needed to establish the trend of IQ decline in the FXTAS individuals who carry with compared to those without .
在这项研究中，研究了 和 基因对脆性 X 相关震颤/共济失调综合征（FXTAS）外显率以及智商轨迹的潜在作用和相互作用。根据分子、临床和影像学标准诊断 FXTAS。本研究纳入了 165 名携带前突变 (PM) 超过 50 岁的男性和 34 名无 FXTAS 诊断的男性，并根据其 （）和 变体（）基因型进行比较。基因对 FXTAS 分期和诊断的影响与 KL-VS 基因型无显著差异，交互效应分别为 = 0.662 和 = 0.91。在具有 等位基因的 FXTAS 个体中，与没有 等位基因的个体相比，具有 等位基因的个体的言语智商（VIQ）下降幅度更大，具有边缘显著意义（= 0.071）。总之，我们的研究结果表明，在 PM 等位基因携带者中，单独的 或 基因型或通过它们的相互作用似乎不会导致 FXTAS 诊断或分期。需要进一步的研究来确定携带 与不携带 相比，FXTAS 个体的智商下降趋势。
