A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype
Received 4 January 2008; received in revised form 30 April 2008; accepted 15 May 2008. published online 11 August 2008.
Objective
To study the association of chromosomal polymorphic variations with infertility and subfertility.
Design
A comparative case-controlled association study using cytogenetic techniques to compare the frequency of chromosomal variations in infertile individuals versus fertile controls.
Setting
Department of Infertility Management and Assisted Reproduction, Jaslok Hospital and Research Centre, Mumbai, India.
Patient(s)
760 infertile individuals and 555 fertile controls.
Frequency of chromosomal polymorphic variations in infertile individuals undergoing infertility treatment versus fertile individuals.
Result(s)
A highly statistically significant increase in the frequency of total chromosomal variants in infertile women (28.31% vs. 15.16%) and infertile men (58.68% vs. 32.55%) was observed. The frequency of 9qh+ was statistically significantly increased in women with primary infertility (16.22% vs. 6.41%) and in men with severe male factor infertility (14.69% vs. 4.25%). A highly statistically significant increase in the frequency of Yqh+ was observed in men whose wives had a bad obstetric history (30.20% vs. 12.74%).
Conclusion(s)
The statistically significantly higher incidence of heterochromatic variations found in infertile individuals stresses on the need to evaluate their role in infertility and subfertility. Potential epigenetic, genetic, and chromosomal modifications could be associated with certain complex disorders such as infertility and bad obstetric history.
aDepartment of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
bPsychiatry Research Program, Jaslok Hospital and Research Centre, Mumbai, India
Reprint requests: Firuza R. Parikh, M.D., Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, 15, Dr. G. Deshmukh Marg, Mumbai-400 026, India (FAX: +91-22-6657-3133).
S.M. has nothing to disclose. A.S.A. has nothing to disclose. P.F.M. has nothing to disclose. D.K. has nothing to disclose. S.A.U. has nothing to disclose. F.R.P. has nothing to disclose.
Supported and funded by research project grants RP 398 and 317 of Jaslok Hospital and Research Centre Mumbai, India.
ABSTRACT