The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss

Saxena, Deepti; Misra, Maneesh Kumar; Parveen, Farah; Phadke, Shubha R.; Agrawal, Suraksha

doi:10.1016/j.placenta.2014.11.014

Cited by 44 publications

(49 citation statements)

References 26 publications

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“…To our knowledge, there are no studies reporting any significant association between g.10403A>G and BC susceptibility, but significant associations have been proposed with other diseases, such as psoriasis vulgaris (MAF: allele G, cases = 0.19; controls = 0.27) [33], vitiligo (MAF: allele G, cases = 0.34; controls = 0.28) [34], unexplained recurrent spontaneous abortion (MAF: allele A, cases = 0.29; controls = 0.40) [35], idiopathic recurrent pregnancy loss (MAF: allele G, cases = 0.40; controls = 0.29) [36], and autism spectrum disorders (MAF: allele A, cases = 0.09; controls = 0.12) [37]. …”

Section: Discussionmentioning

confidence: 99%

FOXP3Allelic Variants and Haplotype Structures Are Associated with Aggressive Breast Cancer Subtypes

et al. 2017

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FOXP3 genetic polymorphisms have been associated with cancer development and prognosis. In this context, the present study aimed to evaluate the g.10403A>G (rs2232365) polymorphisms and g.8048A>C (rs3761548), in aggressive breast cancer (BC) subtypes, including, Luminal B HER2+ (LB), HER2-enriched (HER2+), and triple-negative (TN). Polymerase chain reaction followed by enzymatic restriction was performed to genotyping 117 BC samples and 300 controls. A significant association of AA genotype (g.10403A>G) in relation to BC susceptibility (OR = 1.93; 95% CI = 1.01–3.66; p = 0.046) was observed. The GG (g.10403A>G) genotype was correlated with higher proliferation index (Ki-67) in HER2+ subtype (τ = 0.47; p = 0.019) and advanced TNM staging in TN (τ = 0.23; p = 0.032). A correlation of AA genotype (g.8048A>C) with higher Ki-67 (τ = −0.47; p = 0.018) and lower histological grade (τ = 0.39; p = 0.026) in HER2+ was also found. GA haplotype was correlated with lower histological grade (τ = −0.15; p = 0.009) and higher Ki-67 (τ = 0.43; p = 0.036) in HER2+ and advanced staging in TN (τ = 0.29; p = 0.044). On the other hand, AC haplotype was correlated with lower Ki-67 (τ = −0.54; p = 0.005) and staging (τ = −0.29; p = 0.027) in HER2+ and TN respectively. Results showed that FOXP3 influence regarding clinical outcome depends greatly on the BC subtype and indicated this transcription factor as a promising marker in aggressive BC subtypes.

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Section: Discussionmentioning

confidence: 99%

FOXP3Allelic Variants and Haplotype Structures Are Associated with Aggressive Breast Cancer Subtypes

et al. 2017

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“…The underlying genetic causes of IRM are complex, and it is currently unclear which genes are involved or how individual genetic variants contribute to IRM. There have been a number of candidate gene-associated studies in IRM, including both human leukocyte antigen (HLA) (12,13) and non-HLA genes (14,15), but none of these studies have been conclusive. Therefore, the identification of new potential candidate genes is needed for developing suitable biomarkers for IRM.…”

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confidence: 99%

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages

Misra

Mishra

Phadke

et al. 2016

Fertility and Sterility

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“…Both SNPs are located in the promoter region of the FOXP3 gene. The promoter positions −924 and −3279 have been identified as putative binding site for the transcription factors GATA3 and specifity protein 1 (SP1) . Thus, it could be assumed that both SNPs may modify the FOXP3 gene transcriptional activity and finally the expression level of FOXP3.…”

Section: Demographic and Clinical Characteristics Of Liver Transplantmentioning

confidence: 99%

“…In our study, the allele −3279A occurs statistically more frequently in liver transplant recipients with l‐BPACR than in liver transplant recipients with no‐BPACR. The −3279A allele of the SNP rs3761548 alters the consensus sequence “GGGCGG” for the zinc finger transcription factor SP1 . SP1 is ubiquitously expressed in all mammalian cells and is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling .…”

Section: Demographic and Clinical Characteristics Of Liver Transplantmentioning

confidence: 99%

Impact of TBX21, GATA3, and FOXP3 gene polymorphisms on acute cellular rejection after liver transplantation

Thude

Tiede

Sterneck

et al. 2019

HLA

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The single nucleotide polymorphisms (SNPs) rs4794067, rs2275806, rs2232365, and rs3761548 map in the genes of TBX21, GATA3, and FOXP3 involved in mediating acute cellular rejection. We investigated whether these SNPs are associated with acute cellular liver transplant rejection. The SNPs were analyzed in recipients with early acute cellular rejection (n = 97), recipients with late acute cellular rejection (n = 49), and recipients without rejection (n = 149). There was no association between acute cellular rejection and SNPs rs4794067, rs2275806, and rs2232365. In contrast, the allele −3279A of FOXP3 SNP rs3761548 exhibited a higher frequency in recipients with late acute cellular rejection as compared with recipients without rejection. This result indicates that the allele −3279A of the SNP rs3761548 may predispose to the development of late acute cellular rejection.

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The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss

Cited by 44 publications

References 26 publications

FOXP3Allelic Variants and Haplotype Structures Are Associated with Aggressive Breast Cancer Subtypes

FOXP3Allelic Variants and Haplotype Structures Are Associated with Aggressive Breast Cancer Subtypes

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages

Impact of TBX21, GATA3, and FOXP3 gene polymorphisms on acute cellular rejection after liver transplantation

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