Association of polymorphism within the promoter of the tumor necrosis factor α gene with increased risk of preterm premature rupture of the fetal membranes

Roberts, Alice K.; Monzón-Bordonaba, Federico; Deerlin, Peter G. Van; Holder, Joanne E.; Macones, George A.; Morgan, Mark A.; Strauss, Jerome F.; Parry, Samuel

doi:10.1016/s0002-9378(99)70632-0

Cited by 204 publications

(100 citation statements)

References 19 publications

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“…Indeed, preliminary reports suggest a role for this polymorphism in the etiology of preterm births. 33,34 TNF-a stimulates IL-8 and MCP-1 production in lung cells. There was a trend for IL-8 (but not MCP-1) to be higher in patients with the À308 A allele.…”

Section: Discussionmentioning

confidence: 99%

The TNF−α –308, MCP−1 –2518 and TGF−β1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants

et al. 2003

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Chronic lung disease (CLD) in premature newborns is associated with increased concentrations of inflammatory cytokines in tracheal aspirates (TA). We determined if polymorphisms of cytokine genes influence the risk of developing CLD by genotyping 178 mechanically ventilated very low birth weight (VLBW) infants for the tumor necrosis factor-a (TNF-a) À308 G/A, transforming growth factor-b 1 (TGF-b 1 ) +915 G/C and monocyte chemoattractant protein-1 (MCP-1) À2518 A/G polymorphisms. Genomic DNA was isolated from TA and genotypes determined by restriction length polymorphism. There was no effect of any of these polymorphisms on the development of CLD (29 vs 23%, P ¼ 0.371, TNF-a À308 AA/AG vs TNF-a À308 GG; 23 vs 26%, P ¼ 0.681, MCP-1 À2518 GG/AG vs MCP-1 À215-8 AA; 24 vs 24%, P ¼ 0.978, TGF-b 1 +915 CG vs TGF-b 1 +915 GG). TA IL-8 and MCP-1 concentrations were not different between genotype groups. Infants with the TNF-a À308 A allele had increased risk of IVH (RR 2.07; 95% CI 1.02-4.18, P ¼ 0.041) and infants with the TGF-b 1 +915 C allele were at greater risk of death (32 vs 9%, P ¼ 0.016). These data suggest that these polymorphisms do not play a significant role in determining risk for CLD in preterm infants, but may play a role in other complications in the neonatal period.

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Section: Discussionmentioning

confidence: 99%

The TNF−α –308, MCP−1 –2518 and TGF−β1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants

et al. 2003

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“…Several groups have proposed the synergistic effects of MMP activation and apoptosis leading to rupture of the FM (McLaren et al, 2000a;Fortunato et al, 2000;Bowen et al, 2002;Lei et al, 1996). The promoter polymorphisms in some cytokines (TNF and IL-1 ) and MMPs (-1,-8,-9) have been identified to be associated with PPROM (Ferrand et al, 2002;Fujimoto et al, 2002;Hernandez-Guerrero et al, 2003;Roberts et al, 1999). Patients with these polymorphisms may have earlier initiation of the programmed weakening process resulting in premature rupture of FM and earlier deliveries.…”

Section: Term Fm Develops a Para-cervical "Weak Zone" Where Rupture Imentioning

confidence: 99%

“…As such, it remains difficult to identify those who will develop PROM before the fact. Recently, several groups have demonstrated that African Americans, a group with a high incidence of PPROM with early delivery, have a higher incidence of certain more active polymorphisms of MMPs and pro-inflammatory cytokines (Ferrand et al, 2002;Fujimoto et al, 2002;Hernandez-Guerrero et al, 2003;Roberts et al, 1999). It is possible that a combination of genes and historical factors could eventually lead to prediction of risk of PPROM with adequate certainty that procedures designed to prevent FM rupture that carry some inherent risk would be justifiable.…”

Section: Prevention Of Weakening and Rupture -Identification Of At Rimentioning

confidence: 99%

Weakening and Rupture of Human Fetal Membranes – Biochemistry and Biomechanics

Rangaswamy¹,

Kumar²,

Moore³

et al. 2012

Preterm Birth - Mother and Child

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“…Moreover, there are well-described racial differences in the incidence of preterm deliveries (Shiono & Klebanoff 1986, Migone et al 1991. A single study suggests the association of a rare allele of the tumor necrosis factor-(TNF-) gene arising from genetic polymorphism in the promoter region, with a 3·7-fold increased risk of African-Americans delivering preterm (Roberts et al 1999). There have been no similar studies on the relaxin genes in the ethnic groups in which preterm delivery is markedly increased.…”

Section: Introductionmentioning

confidence: 99%

Analysis of the 5'-upstream regions of the human relaxin H1 and H2 genes and their chromosomal localization on chromosome 9p24.1 by radiation hybrid and breakpoint mapping

Garibay-Tupas¹,

Csiszár²,

Fox³

et al. 1999

Journal of Molecular Endocrinology

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Relaxins are known endocrine and autocrine/ paracrine hormones that play a major role in reproduction. In the human there are two relaxin genes, H1 and H2 which share 90% sequence homology within their coding region. The biological and evolutionary significance of two highly homologous and biologically active human relaxins is unknown. In order to achieve a better understanding of the regulatory mechanisms involved in the differential expression of these two genes and to gain insight into their role(s) in the preterm premature rupture of the membranes, we have investigated the properties of their 5 -upstream regions and mapped them both by radiation hybrid and breakpoint mapping into the same chromosome 9p24·1 locus. The 5 ends of these relaxin genes could be divided into a proximal highly homologous segment and a distal non-homologous region. Within the proximal region are contained several putative regulatory elements common to both genes, suggesting a similar regulatory mechanism. The clustering of the relaxin genes within the same chromosomal locus suggests that these genes may be under a common regulation. On the other hand, a distinct gene-specific regulation may also exist for the individual relaxin genes since cis elements specific to each gene were identified at their 5 ends. Moreover, the observed divergence at the distal region of their 5 -upstream sequences may provide the structural features that act as gene-specific transcription regulators. Since the two genes are highly homologous in both their coding and flanking regions, the divergence at the distal region of their 5 ends may be important in the regulation of these genes and in their involvement in the pathology of preterm birth.

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Association of polymorphism within the promoter of the tumor necrosis factor α gene with increased risk of preterm premature rupture of the fetal membranes

Cited by 204 publications

References 19 publications

The TNF−α –308, MCP−1 –2518 and TGF−β1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants

The TNF−α –308, MCP−1 –2518 and TGF−β1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants

Weakening and Rupture of Human Fetal Membranes – Biochemistry and Biomechanics

Analysis of the 5'-upstream regions of the human relaxin H1 and H2 genes and their chromosomal localization on chromosome 9p24.1 by radiation hybrid and breakpoint mapping

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