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Archives of Gynecology and Obstetrics

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01-06-2014 | General Gynecology

Association between fragile X premutation and premature ovarian failure: a case–control study and meta-analysis

Authors: Durgadatta Tosh, K. Lakshmi Rao, H. Surekha Rani, D. Anupama Deenadayal, U. S. N. Murty, Paramjit Grover

Published in: Archives of Gynecology and Obstetrics | Issue 6/2014

Abstract

Aim

The aim of the present study was to investigate the association between FMR1 premutation and premature ovarian failure (POF) patients in Indian population, and a meta-analysis of published results was undertaken to clarify whether FMR1 premutation consistently contributed to the susceptibility.

Methods

A total of 289 POF samples and 360 control samples were included in the study. Repeat variation was checked using GeneScan technique. Results were analyzed with GeneMapper software. Meta-analysis was performed using the Open Meta-Analyst and STATA 12.0 software. The crude odds ratio with 95 % confidence interval (CI) was computed to assess the strength of the associations.

Results

The assayed case and control population showed 29 different CGG repeat sizes (alleles), ranging from 7 to 40. Within this population, we found that the CGG repeat length polymorphisms were within the normal range of 6–55 in both patients as well as control samples. Eleven case–control studies were included in the meta-analysis with a total of 1,313 POF cases and 3,132 control subjects. Our meta-analysis revealed that there was a significant difference in the incidence of FMR1 premutation between POF cases and control subjects with p value <0.001 (OR 5.41; 95 % CI 2.53, 11.61).

Conclusions

We found no significant association between FMR1 CGG repeat premutation and POF in Indian population. However, the meta-analysis showed an increased risk of POF associated with a premutation, especially among populations from European descent. Further functional research should be performed to explain the inconsistent results in different ethnicities and POF susceptibility.

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Title: Association between fragile X premutation and premature ovarian failure: a case–control study and meta-analysis
Authors: Durgadatta Tosh
K. Lakshmi Rao
H. Surekha Rani
D. Anupama Deenadayal
U. S. N. Murty
Paramjit Grover
Publication date: 01-06-2014
Publisher: Springer Berlin Heidelberg
Published in: Archives of Gynecology and Obstetrics / Issue 6/2014
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-014-3145-4

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Association between fragile X premutation and premature ovarian failure: a case–control study and meta-analysis

Abstract

Aim

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Aim

Methods

Results

Conclusions

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