• PMID: 22959455
• Gene Name: H19
• Condition: Idiopathic recurrent spontaneous miscarriage
• Association: Significant reduction in the H19 ICR methylation without significant difference in the sperm parameters demonstrates aberrant imprinting to be associated with idiopathic RSM.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic recurrent spontaneous miscarriage

Methylation analysis of idiopathic recurrent spontaneous miscarriage cases reveals aberrant imprinting at H19 ICR in normozoospermic individuals

Ankolkar M, Patil A, Warke H, Salvi V, Kedia Mokashi N, Pathak S, Balasinor NH.

OBJECTIVE: To study H19 ICR methylation levels in association with sperm parameters routinely analyzed in idiopathic recurrent spontaneous miscarriage cases. DESIGN: Case-control study. SETTING: Academic research setting. PATIENT(S): Male partners of couples with a history of idiopathic recurrent spontaneous miscarriage (RSM group) and male partners of couples with proven fertility (control group). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Paternal age, sperm concentration, motility, chromatin compaction status, morphology, and H19 ICR methylation were assessed in control and idiopathic RSM group participants. RESULT(S): Paternal age and basic semen parameters analyzed did not show any significant difference between the two groups; however H19 ICR methylation levels were reduced significantly in the idiopathic RSM group compared with the control group. CONCLUSION(S): Significant reduction in the H19 ICR methylation without significant difference in the sperm parameters demonstrates aberrant imprinting to be associated with idiopathic RSM. CI - Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Ankolkar, Mandar AU - Ankolkar M AD - Department of Neuroendocrinology, National Institute for Research in Reproductive Health, Mumbai, India. FAU - Patil, Anushree AU - Patil A FAU - Warke, Himangi AU - Warke H FAU - Salvi, Vinita AU - Salvi V FAU - Kedia Mokashi, Neelam AU - Kedia Mokashi N FAU - Pathak, Shilpa AU - Pathak S