Effect of steroid hormone receptor gene variants PROGINS (Alu insertion) and PGR C/T (rs1042839) as a risk factor for recurrent pregnancy loss in Kashmiri population (North India)

Aim To unveil and evaluate the association and analyze the incidence and pattern of PGR gene polymorphisms (PROGINS insertion and PGR exon 5‐C/T polymorphism) in recurrent pregnancy loss (RPL) couples of Kashmir. Methods In this study, analyses of PGR gene polymorphisms in RPL couples were genotyped...

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Published in:The journal of obstetrics and gynaecology research 2021-12, Vol.47 (12), p.4329-4339
Main Authors: Khan, Nebela, Zargar, Mahrukh Hameed, Ahmed, Rehana, Godha, Meena, Ahmad, Abida, Afroze, Dil, Masoodi, Shariq R.
Format: Article
Language:English
Subjects:
Abortion, Habitual - genetics
Case-Control Studies
Female
Gene Frequency
Gene polymorphism
Genetic markers
Genetic Predisposition to Disease
Genotype
Haplotypes
Hormones
Humans
India
Insertion
PCR
PGR
Polymerase chain reaction
Polymorphism
Polymorphism, Single Nucleotide
Pregnancy
Receptors, Progesterone - genetics
Receptors, Steroid - genetics
Restriction fragment length polymorphism
RFLP
Risk Factors
RPL
Single-nucleotide polymorphism
Steroids
Therapeutic targets
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Summary:Aim To unveil and evaluate the association and analyze the incidence and pattern of PGR gene polymorphisms (PROGINS insertion and PGR exon 5‐C/T polymorphism) in recurrent pregnancy loss (RPL) couples of Kashmir. Methods In this study, analyses of PGR gene polymorphisms in RPL couples were genotyped by amplification‐refractory mutation system polymerase chain reaction (PCR) and PCR‐restriction fragment length polymorphism. Results Molecular analysis of PGR gene polymorphisms indicated that the genotypic and allelic frequencies of PROGINS insertion and PGR exon 5 C/T polymorphisms of female group in cases and controls to be significantly different and poses risk in predisposition to RPL. Moreover, haplotype analysis in female group revealed that P1P2/CC and P1P2/CT genotype are significantly associated with RPL. Conclusion Our data indicate that the PROGINS insertion and exon 5‐C/T polymorphism can act as useful genetic markers in the female group, but needs to be replicated in further studies including various other single nucleotide polymorphisms of PGR gene relevant to pregnancy loss which may contribute to novel therapeutic targets with improved conclusions.
ISSN:1341-8076
1447-0756
DOI:10.1111/jog.15054