HLA-G polymorphism patterns show lack of detectable association with recurrent spontaneous abortion

Aruna, Meka; Sudheer, P. S.; Andal, Sadaranga; Surapaneni, Tarakeswari; Reddy, Alla G.; Thangaraj, Kumarasamy; Singh, Lalji; Reddy, B. Mohan

doi:10.1111/j.1399-0039.2010.01505.x

Cited by 20 publications

(17 citation statements)

References 32 publications

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“…For this 2 apparent association, the confidence interval was very wide and therefore a larger sample for the 2 selected groups is needed to confirm this association. Our results regarding the association study between the 14-bp indel polymorphism and RSA in the Saudi population agree with those reported in other populations such as the Amerindian populations from the Brazilian Amazon, Finnish, Hungarian, Polish, Japanese, Danish, Chinese, and some Indian populations (Hviid et al, 2002;Yan et al, 2006;Xue et al, 2007;Aruna et al, 2010). However, in other studies, the association between the HLA-G 14-bp polymorphism and RSA were confirmed in some Indian and Chinese populations (Shankarkumar et al, 2011).…”

Section: Discussionsupporting

confidence: 91%

Genetic association between the HLA-G 14-bp insertion/deletion polymorphism and the recurrent spontaneous abortions in Saudi Arabian women

et al. 2015

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ABSTRACT. The non-classical class I human leukocyte antigen (HLA)-G molecule was found to be predominately expressed in the extravillous cytotrophoblasts at the fetal-maternal interface during pregnancy. This molecule is critically important for successful implantation during human pregnancy. The polymorphic insertiondeletion (indel) 14-base pair (bp) site localized at the 3' untranslated region was associated with HLA-G mRNA stability and isoform alternative splicing patterns, and thus may influence HLA-G function during pregnancy. We studied the association between the 14-bp indel polymorphism (rs16375) at the 3' untranslated region with recurrent spontaneous abortions in a Saudi population living in Riyadh. A group HLA-G 14-bp polymorphism and recurrent spontaneous abortion of 64 women with 2-11 successive abortions were included in this study. The control group included 62 women without reported abortions and at least 2 pregnancies, all visiting the King Khaled Hospital in Riyadh. The 14-bp indel was genotyped in the case and control groups. The frequency of the genotype +14/+14 was slightly higher in women with recurrent spontaneous abortions, but no significant differences were observed in the distribution of alleles and genotypes.

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Section: Discussionsupporting

confidence: 91%

Genetic association between the HLA-G 14-bp insertion/deletion polymorphism and the recurrent spontaneous abortions in Saudi Arabian women

et al. 2015

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“…This polymorphism flanks a binding site for the transcription factor IRF-1 (interferon rergulatory factor) and creates a methylated CpG dinucleotide, which could alter the conformation of DNA and affect IRF-1 binding and subsequently HLA-G transcription [89]. However, some studies failed to demonstrate a clear association between HLA-G gene polymorphisms and pregnancy complications [90][91][92][93][94], indicating that several mechanisms could influence HLA-G expression and subsequent pregnancy outcome. The presence of different HLA-G isoforms has to be taken into consideration in all of these studies as some polymorphisms could affect the stability of only some transcripts and preserve other isoforms that could sustain the pregnancy immune regulation.…”

Section: Pathological Conditionsmentioning

confidence: 99%

The importance of HLA-G expression in embryos, trophoblast cells, and embryonic stem cells

Rizzo

Vercammen

Velde

et al. 2010

Cell. Mol. Life Sci.

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The nonclassical HLA-G molecule is a trophoblast-specific molecule present in almost every pregnancy. It differs from classical HLA class I molecules by the low degree of allelic variants and the high diversity of protein structures. HLA-G is reported to be a tolerogenic molecule that acts on cells of both innate and adaptive immunity. At the maternal-fetal interface HLA-G seems to be responsible largely for the reprogramming of local maternal immune response. This review will focus on the HLA-G gene expression profile in pregnancy, in preimplantation embryos, and in human embryonic stem cells with emphasis on the structural diversity of the HLA-G protein and its potential functional and diagnostic implications.

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“…[11–17] An association between *G0105N that impairs the production of the G1 isoform in RSA women has been shown in various cases. [11] The deletion of C from codon 130 results in a frameshift in the G*0105N allele.…”

Section: Introductionmentioning

confidence: 99%

Role of 14-bp deletion/insertion polymorphism in exon 8 of the HLA-G gene in recurrent spontaneous abortion patients

Shankarkumar

Ghosh

2011

J Hum Reprod Sci

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BACKGROUND:Human leukocyte antigen (HLA)-G belongs to the nonclassical Class I major histocompatibility complex, and is predominantly and specifically found on the extravillous cytotrophoblast cells of the placenta. HLA-G has been postulated as an important immunotolerant molecule in maintaining successful pregnancy and maternal tolerance of the semiallogenic fetus. Recent reports indicate that the 14-bp deletion/insertion polymorphism in exon 8 of the 3’UTR region of the HLA-G gene influences the HLA-G mRNA stability and isoform splicing patterns, thus modulating the levels of HLA-G expression.AIM:The aim was to study the 14-bp deletion/insertion polymorphism in exon 8 of the 3’UTR region of the HLA-G gene.MATERIALS AND METHODS:A total of 50 women with unexplained three or more recurrent spontaneous abortions (RSAs) and 41 normal healthy control women who have had normal pregnancies and were genotyped for the 14-bp deletion/insertion polymorphism were genotyped for the 14-bp deletion/insertion polymorphism by polymerase chain reaction for exon 8-specific primersRESULTS:It was found that the 14-bp allele deletion frequency was lower in patients (67%) versus controls (73%), while 14-bp allele insertion was higher among patients (33%) versus controls (9%). Similarly, the homozygous deletion halotype was higher among the controls (80.48%); the heterozygous insertion deletion haplotype (34%) and homozygous insertion haplotype (16%) were higher in RSA patients. The HLA haplotype HLA A*02:11_B*40:06:01:01 was increased among RSA women compared to controls.CONCLUSION:Our results suggest that 14-bp deletion/insertion polymorphisms might have importance in the outcome of pregnancy and the 14-bp deletion polymorphism in exon 8 of the HLA-G gene may be important from an evolutionary perspective of successful pregnancy.

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HLA-G polymorphism patterns show lack of detectable association with recurrent spontaneous abortion

Cited by 20 publications

References 32 publications

Genetic association between the HLA-G 14-bp insertion/deletion polymorphism and the recurrent spontaneous abortions in Saudi Arabian women

Genetic association between the HLA-G 14-bp insertion/deletion polymorphism and the recurrent spontaneous abortions in Saudi Arabian women

The importance of HLA-G expression in embryos, trophoblast cells, and embryonic stem cells

Role of 14-bp deletion/insertion polymorphism in exon 8 of the HLA-G gene in recurrent spontaneous abortion patients

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