Role of Progesterone Receptor Polymorphisms in the Recurrent Spontaneous Abortions: Indian Case

Background: We attempt to ascertain if the 3 linked single nucleotide polymorphisms (SNPs) of the Progesterone Recepto

Role of Androgen Receptor CAG Repeat Polymorphism and X-Inactivation in the Manifestation of Recurrent Spontaneous Abortions in Indian Women

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%

Gel picture showing bands for homozygotes (T1) allele, heterozygotes (T1/T2), and homozygote (T2) allele run on 2% agarose.

<p>Lane 3, 4, 5, and 6 are heterozygotes, and lane 13 is homozygous for the T2 allele and the remaining are homozygous for the T1 allele.</p

LD plot showing the confidence bounds color scheme where dark grey suggests strong evidence of LD and light grey suggests an uninformative status of LD.

<p>The analysis reveals that exons 4 and 5 inherit as an LD Block.</p

Genotype distribution of the PR mutations; (*1) wild type (G1031, G1978, and C2310) and (*2) mutant allele.

<p>Genotype distribution of the PR mutations; (*1) wild type (G1031, G1978, and C2310) and (*2) mutant allele.</p

Odds ratio for the *2 allele in RSA pooled samples and in the 2–3 abortions.

<p>Odds ratio for the *2 allele in RSA pooled samples and in the 2–3 abortions.</p

Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.

<p>Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.</p

Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women

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