Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, Colombia.
Instituto Colombiano del Sistema Nervioso Clínica Monserrat, Bogotá, Colombia.
PLoS One. 2020 Jul 2;15(7):e0235512. doi: 10.1371/journal.pone.0235512. eCollection 2020.
The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from meta-analysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.
自闭症谱系障碍 (ASD) 是一种复杂的疾病，包括广泛的表型和基因型变异性。短（S）/长（L）5-羟色胺转运体启动子区域（5-HTTLPR）多态性在调节细胞外 5-羟色胺水平方面具有功能作用，两个等位基因都与 ASD 有关。大多数研究包括欧洲、美国和亚洲人群的研究表明，这种多态性存在种族异质性；然而，最近的荟萃分析表明，来自拉丁美洲人群的短/长频率研究较少。在这里，我们评估了哥伦比亚特发性 ASD 个体的 5-HTTLPR 多态性，并报告了 S 或 L 等位基因无偏好性传递，与 ASD 风险或症状严重程度无关。此外，为了识别代表性不足的人群的等位基因频率，我们还从拉丁美洲个体中恢复了遗传研究，并将这些频率与其他种族的频率进行了比较。荟萃分析的结果表明，拉丁美洲的短/长频率与白种人群体报告的频率相似，但与非洲和亚洲地区不同。
