Premium
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length
Author(s) -
Albizua Igor,
RamboMartin Benjamin L.,
Allen Emily G.,
He Weiya,
Amin Ashima S.,
Sherman Stephanie L.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38476
Subject(s) - telomere , fragile x syndrome , fmr1 , allele , genetics , biology , biological age , medicine , gene , endocrinology , evolutionary biology
Women who carry a fragile X premutation, defined as having 55–200 unmethylated CGG repeats in the 5′ UTR of the X‐linked FMR1 gene, have a 20‐fold increased risk for primary ovarian insufficiency (FXPOI). We tested the hypothesis that women with a premutation + FXPOI have shorter telomeres than those without FXPOI because they are “biologically older.” Using linear regression, we found that women carrying a premutation ( n = 172) have shorter telomeres and hence, are “biologically older” than women carrying the normal size allele ( n = 81). Strikingly, despite having shorter telomeres, age was not statistically associated with their telomere length, in contrast to non‐carrier controls. Further, telomere length within premutation carriers was not associated with repeat length but was associated with a diagnosis of FXPOI, although the latter finding may depend on FXPOI age of onset.