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Vanniarajan A.,CSIR - Central Electrochemical Research Institute | Govindaraj P.,CSIR - Central Electrochemical Research Institute | Carlus S.J.,CSIR - Central Electrochemical Research Institute | Aruna M.,Indian Statistical Institute | And 14 more authors.
Mitochondrion | Year: 2011

Several genetic factors have been found to be associated with recurrent pregnancy loss (RPL). However, not many attempts have been made to associate the mitochondrial DNA (mtDNA) variations with RPL. Therefore, we have analyzed the complete mtDNA of 100 women with RPL and 12 aborted fetal tissues. Our analysis revealed a total of 681 variations, most of which were in NADH Dehydrogenase (ND) genes that encode mitochondrial enzyme Complex I. Presence of T4216C variation (ND1 gene) in 9% of the RPL women and several pathogenic, and novel mutations suggest the role of mtDNA variations in RPL. © 2011 © Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Aruna M.,Indian Statistical Institute | Sudheer P.S.,Indian Statistical Institute | Andal S.,Lakshmi Fertility Clinic and Research Center | Tarakeswari S.,Fernandez Hospital | And 4 more authors.
Tissue Antigens | Year: 2010

Human leukocyte antigen-G (HLA-G) is a class I non-classical molecule that is predominantly expressed on the extravillous cytotrophoblasts at foetal-maternal interface during pregnancy. We recruited 143 recurrent spontaneous abortion (RSA) and 150 control couples for the study. DNA-based typing of the HLA-G was carried out to explore if we can validate the patterns of association reported elsewhere or find association of novel HLA-G alleles with RSA in the Indian population. We also evaluated the role of allele sharing in couples with RSA. We did not find association of any of the HLA-G alleles with RSA in our study. There is a general trend of increase in sharing among the RSA couples, but the increase is not significant. The results suggest that the HLA-G alleles or the allele sharing by couples may not play a significant role in the manifestation of RSA in the Indian context albeit more studies are required before making any definitive statement. © 2010 John Wiley & Sons A/S.

Aruna M.,Indian Statistical Institute | Dasgupta S.,Indian Statistical Institute | Sirisha P.V.S.,Indian Statistical Institute | Bhaskar S.A.,Lakshmi Fertility Clinic and Research Center | And 3 more authors.
PLoS ONE | Year: 2011

The aim of the present study was to investigate the role of CAG repeat polymorphism and X-chromosome Inactivation (XCI) pattern in Recurrent Spontaneous Abortions among Indian women which has not been hitherto explored. 117 RSA cases and 224 Controls were included in the study. Cases were recruited from two different hospitals - Lakshmi Fertility Clinic, Nellore and Fernandez Maternity Hospital, Hyderabad. Controls were roughly matched for age, ethnicity and socioeconomic status. The CAG repeats of the Androgen Receptor gene were genotyped using a PCR-based assay and were analysed using the GeneMapper software to determine the CAG repeat length. XCI analysis was also carried out to assess the inactivation percentages. RSA cases had a significantly greater frequency of allele sizes in the polymorphic range above 19 repeats (p = 0.006), which is the median value of the controls, and in the biallelic mean range above 21 repeats (p = 0.002). We found no evidence of abnormal incidence of skewed X-inactivation. We conclude that longer CAG repeat lengths are associated with increased odds for RSA with statistical power estimated to be ~90%. © 2011 Aruna et al.

Aruna M.,Indian Statistical Institute | Sirisha P.V.S.,Indian Statistical Institute | Andal Bhaskar S.,Lakshmi Fertility Clinic and Research Center | Tarakeswari S.,Fernandez Maternity Hospital | And 2 more authors.
Tissue Antigens | Year: 2011

Human leukocyte antigen (HLA)-G is predominantly expressed on the extravillous cytotrophoblasts at the fetal-maternal interface. The 14-bp polymorphism in exon 8 is associated with HLA-G messenger ribonucleic acid (mRNA) stability and isoform alternative splicing patterns, thereby influencing the functionality of HLA-G in pregnancy. We analysed the 14-bp indel polymorphism in 143 recurrent spontaneous abortions (RSAs) and 150 control couples. We did not find any significant difference in the 14-bp insertion/deletion allele frequencies among the RSA and control couples. Analysis for increased sharing of the polymorphism in the RSA and the control couples also did not show any significant difference. However, we found an increase in the frequency of the 14-bp deletion homozygotes in the RSA women, which could lead to extremely high levels of soluble HLA-G (sHLA-G). © 2010 John Wiley & Sons A/S.

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