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Role of progesterone receptor polymorphisms in the recurrent spontaneous abortions: Indian case.

Aruna M, Nagaraja T, Andal S, Tarakeswari S, Sirisha PV, Reddy AG, Thangaraj K, Singh L, Reddy BM - PLoS ONE (2010)

Bottom Line: A total of 143 women with RSA and 150 controls were sequenced for all the 8 exons looking for the above 3 linked SNPs of the PR gene earlier implicated in the RSA, as well as for any new SNPs that may be possibly found in the Indian population.We did not find any new mutations, not observed earlier, in our population.The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

View Article: PubMed Central - PubMed

Affiliation: Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Hyderabad, India.

ABSTRACT

Background: We attempt to ascertain if the 3 linked single nucleotide polymorphisms (SNPs) of the Progesterone Receptor (PR) gene (exon 1: G 1031 C; S344T, exon 4: G 1978 T; L660V and exon 5: C 2310 T; H770H) and the PROGINS insertion in the intron G, between exons 7 and 8, are associated with Recurrent Spontaneous Abortion (RSA) in the Indian population.

Methodology/principal findings: A total of 143 women with RSA and 150 controls were sequenced for all the 8 exons looking for the above 3 linked SNPs of the PR gene earlier implicated in the RSA, as well as for any new SNPs that may be possibly found in the Indian population. PROGINS insertion was screened by electrophoresis. We did not find any new mutations, not observed earlier, in our population. Further, we did not find significant role of the *2 allele (representing the mutant allele at the three SNP loci) or the T2 allele (PROGINS insertion) in the manifestation of RSA. We also did not find an LD pattern between each of the 3 SNPs and the PROGINS insertion.

Conclusions/significance: The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

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Related in: MedlinePlus

Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.
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pone-0008712-g002: Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.

Mentions: The analyses of PROGINS Alu insertion revealed genotypic frequencies of 133 (97.1%) homozygous wild type (T1/T1), 3 (2.2%) heterozygous (T1/T2) and 1 (0.7%) homozygous PROGINS insertion (T2/T2) among the RSA women as compared to the frequencies of 143 (95.3%), 6 (4%) and 1 (0.7%) among the controls (Figure 2). The genotype frequencies were not found to be significantly different between RSA and control women (χ2 = 1.05, df = 2, p = 0.59). Allele frequencies for the T1 and T2 alleles were observed to be 0.982 and 0.018 and 0.973 and 0.027, respectively for the RSA and control women. The difference in the allele frequencies between RSA and control women was not significant in either the pooled sample or when RSA women with different number of abortions are separately considered.


Role of progesterone receptor polymorphisms in the recurrent spontaneous abortions: Indian case.

Aruna M, Nagaraja T, Andal S, Tarakeswari S, Sirisha PV, Reddy AG, Thangaraj K, Singh L, Reddy BM - PLoS ONE (2010)

Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2806831&req=5

pone-0008712-g002: Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.
Mentions: The analyses of PROGINS Alu insertion revealed genotypic frequencies of 133 (97.1%) homozygous wild type (T1/T1), 3 (2.2%) heterozygous (T1/T2) and 1 (0.7%) homozygous PROGINS insertion (T2/T2) among the RSA women as compared to the frequencies of 143 (95.3%), 6 (4%) and 1 (0.7%) among the controls (Figure 2). The genotype frequencies were not found to be significantly different between RSA and control women (χ2 = 1.05, df = 2, p = 0.59). Allele frequencies for the T1 and T2 alleles were observed to be 0.982 and 0.018 and 0.973 and 0.027, respectively for the RSA and control women. The difference in the allele frequencies between RSA and control women was not significant in either the pooled sample or when RSA women with different number of abortions are separately considered.

Bottom Line: A total of 143 women with RSA and 150 controls were sequenced for all the 8 exons looking for the above 3 linked SNPs of the PR gene earlier implicated in the RSA, as well as for any new SNPs that may be possibly found in the Indian population.We did not find any new mutations, not observed earlier, in our population.The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

View Article: PubMed Central - PubMed

Affiliation: Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Hyderabad, India.

ABSTRACT

Background: We attempt to ascertain if the 3 linked single nucleotide polymorphisms (SNPs) of the Progesterone Receptor (PR) gene (exon 1: G 1031 C; S344T, exon 4: G 1978 T; L660V and exon 5: C 2310 T; H770H) and the PROGINS insertion in the intron G, between exons 7 and 8, are associated with Recurrent Spontaneous Abortion (RSA) in the Indian population.

Methodology/principal findings: A total of 143 women with RSA and 150 controls were sequenced for all the 8 exons looking for the above 3 linked SNPs of the PR gene earlier implicated in the RSA, as well as for any new SNPs that may be possibly found in the Indian population. PROGINS insertion was screened by electrophoresis. We did not find any new mutations, not observed earlier, in our population. Further, we did not find significant role of the *2 allele (representing the mutant allele at the three SNP loci) or the T2 allele (PROGINS insertion) in the manifestation of RSA. We also did not find an LD pattern between each of the 3 SNPs and the PROGINS insertion.

Conclusions/significance: The results suggest that the PR gene mutations may not play any exclusive role in the manifestation of RSA, and instead, given significantly higher frequency of the *2 allele among the normal women, we surmise if it does not really confer a protective role among the Indian populations, albeit further studies are required in the heterogeneous populations of this region before making any conclusive statement.

Show MeSH
Related in: MedlinePlus