MyMedR

Fulltext Progesterone Receptor (PGR) gene polymorphism is associated with susceptibility to preterm birth

Langmia IM, Apalasamy YD, Omar SZ, Mohamed Z

BMC Med Genet, 2015;16:63.

PMID: 26286601 DOI: 10.1186/s12881-015-0202-1

Preterm birth (PTB) is the major cause of death in newborn and the second major cause of death in children less than 5 years old worldwide. Genetic polymorphism has been implicated as a factor for the occurrence of preterm birth. The aim of this study is to evaluate whether polymorphism in the progesterone receptor (PGR) is associated with susceptibility to preterm birth.

Matched MeSH terms: Premature Birth/genetics*

De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features

Salahshourifar I, Halim AS, Sulaiman WA, Ariffin R, Naili Muhamad Nor N, Zilfalil BA

Cytogenet Genome Res, 2011;134(2):83-7.

PMID: 21447942 DOI: 10.1159/000325541

Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.

Matched MeSH terms: Premature Birth/genetics

Association of VEGFA gene polymorphisms and VEGFA plasma levels with spontaneous preterm birth

Langmia IM, Apalasamy YD, Omar SZ, Mohamed Z

Pharmacogenet Genomics, 2015 Apr;25(4):199-204.

PMID: 25714003 DOI: 10.1097/FPC.0000000000000125

Angiogenic pathway regulating genes such as vascular endothelial growth factor A (VEGFA) have been implicated in preterm birth (PTB) complications. Research shows that the VEGFA/VEGF receptor system plays an important role in the regulation of circulating progesterone level. Attenuation of VEGFA signaling at mid pregnancy results in onset of labor and parturition because of a reduction in circulating progesterone levels. The aim of this study was to investigate the association of VEGFA gene polymorphisms (rs2010963, rs3025039, rs699947, and rs10434) with spontaneous PTB and VEGFA plasma levels in preterm and term women.

Matched MeSH terms: Premature Birth/genetics*

Impact of IL1B gene polymorphisms and interleukin 1B levels on susceptibility to spontaneous preterm birth

Langmia IM, Apalasamy YD, Omar SZ, Mohamed Z

Pharmacogenet Genomics, 2016 Nov;26(11):505-509.

PMID: 27602547

OBJECTIVE: Genetic factors influence susceptibility to preterm birth (PTB) and the immune pathway of PTB that involves the production of cytokines such as interleukins has been implicated in PTB disease. The aim of this study is to investigate the association of interleukin 1β (IL1B) gene polymorphisms and IL1B levels with spontaneous PTB.

STUDY DESIGN: Peripheral maternal blood from 495 women was used for extraction of DNA and genotyping was carried out using the Sequenom MassARRAY platform. Maternal plasma was used to measure IL1B levels.

RESULTS: There was no significant association between the allelic and genotype distribution of IL1B single nucleotide polymorphism (SNP) (rs1143634, rs1143627, rs16944) and the risk of PTB among Malaysian Malay women (rs1143634, P=0.722; rs1143627, P=0.543; rs16944, P=0.615). However, IL1B levels were significantly different between women who delivered preterm compared with those who delivered at term (P=0.030); high mean levels were observed among Malay women who delivered at preterm (mean=32.52) compared with term (mean=21.68). IL1B SNPs were not associated with IL1B plasma levels.

CONCLUSION: This study indicates a significant association between IL1B levels and reduced risk of PTB among the Malaysian Malay women. This study shows the impact of IL1B levels on susceptibility to PTB disease; however, the high levels of IL1B observed among women in the preterm group are not associated with IL1B SNPs investigated in this study; IL1B high levels may be because of other factors not explored in this study and therefore warrant further investigation.

Matched MeSH terms: Premature Birth/genetics*

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