Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia.
Reprod Biomed Online. 2012 Mar;24(3):339-41. doi: 10.1016/j.rbmo.2011.11.017. Epub 2011 Dec 2.
FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups.
FOXO4 构成了一个与卵巢早衰 (POF) 发病机制相关的一致候选基因。本研究在 116 名 POF 患者和 143 名突尼斯裔对照组的基因编码区和外显子侧翼区对该基因进行了测序。在两组中，均发现了 IVS2 + 41T > G 序列变异。结论是，FOXO4 的编码突变不应是突尼斯人群女性疾病的常见原因。然而，本研究不能排除来自开放阅读框或启动子序列变异的 FOXO4 功能障碍可能与其他种族群体疾病的发病机制有关。
