Imprinting effect in XXXX confined to paternally inherited @entity2100 premutations.

@entity1 @entity2100 @entity11157
@entity2100 premutations are considered to be a risk factor for @entity11157 ( @entity11157 ), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in female carriers. The occurrence of @entity11157 and age at menopause in @entity1 with a paternally inherited @entity2100 premutation (PIP) were compared to those in @entity1 with a @entity2100 ( @entity2100 ). We identified 148 @entity1 in whom the parental origin of the premutation could be determined. In 109 of these @entity1 we were able to establish whether @entity11157 had occurred: 82 @entity1 had a PIP, and 27 had a @entity2100 . Twenty-three of the @entity1 (28%) with a PIP had @entity11157 , versus only 1 (3.7%) with a @entity2100 (two -tailed Fisher's exact test; P=. 007). Kaplan-Meier analysis of all 148 premutations showed that the age at menopause was significantly lower in the @entity1 with a PIP than in the @entity1 with a @entity2100 (Breslow test in Kaplan-Meier analysis; P=.003). Our data strongly suggest that, when @entity11157 occurs in @entity2100 premutation carriers, a considerable proportion of the premutations are inherited paternally (parent-of-origin effect). We hypothesize that this may be owing to a paternal genomic imprinting effect.
