Synopsis of Preterm Birth Genetic Association Studies: The Preterm Birth Genetics Knowledge Base (PTBGene)

Abstract

Aim: Our goal wasto produce a field synopsis of genetic associations with preterm birth and to set up a publicly available online database summarizing the data. Methods: We performed a systematic review and meta-analyses to identify genetic associations with preterm birth. We have set up a publicly available online database of genetic association data on preterm birth called PTBGene (http://ric.einstein.yu.edu/ptbgene/index.html) and report on a structured synopsis thereof as of December 1, 2008. Results: Data on 189 polymorphisms in 84 genes have been included and 36 meta-analyses have been performed. Five gene variants (4 in maternal DNA, one in newborn DNA) have shown nominally significant associations, but all have weak epidemiological credibility. Conclusion: After publishing this field synopsis, the PTBGene database will be regularly updated to keep track of the evolving evidence base of genetic factors in preterm birth with the goal of promoting knowledge sharing and multicenter collaboration among preterm birth research groups.

Preterm Birth Genome Project (PGP) – validation of resources for preterm birth genome-wide studies

“…The Preterm Birth Genome Project (PGP) is a consortium initiated by the Preterm Birth International Collaborative (PREBIC), March of Dimes (USA) and the World Health Organization (Geneva) to study genetic predisposition in PTB using GWAS [2] . Candidate gene associations have been reported widely in PTB, and PREBIC has recently summarized these data in a systematic review by Dolan et al This report listed several positive and negative associations as well as data that were reproduced in multiple studies [5] .…”

Single-nucleotide polymorphism associations with preterm delivery: a case–control replication study and meta-analysis

“…The literature provides evidence supporting other SNPs as candidates for PTB (e.g., IL1RN), but we were unable to assess them in this study (resource limitations) (14,15). It is possible that publication bias limited the number of SNPs we selected for replication.…”

“…The search strategy was developed by one author with assistance from a university research librarian and considered only full papers published in English. Papers up to December 2008 were retrieved from an already published online database of associations (15). Relevant references within these papers were also selected.…”

“…The growing number of single-nucleotide polymorphism (SNP) associations was reviewed systematically in 2005 (13) and more recently was curated to form an online resource incorporating a meta-analysis component (14,15). Many of the associations reported to date lack replication, and there is substantial variation between reports, including mixed ethnicities, variable cohort sizes, differing genetic models applied, and different definitions of PTB between studies.…”

Neurogenetic Aspects of Perinatal Hypoxic-Ischemic Affections of the Central Nervous System

“…[25] продемонстри-ровало, что полиморфизм rs8192282 является частью гаплотипа, состоящего из полиморфных маркеров генов, которые могут модулировать воспалительный процесс в организме. Недавний обзор литературы [29] показал, что с преждевременными родами было ассоциирова-но 189 однонуклеотидных полиморфизмов в 84 генах. Метаанализ этих исследований обнаружил связь ряда материнских генов рецептора антогониста интерлейки-на 1, гамма-интерферона (вовлечены в иммунные про-цессы), бета-2 адренорецептора (G-протеинсвязывающий рецептор), фактора 2 (коагуляция) с прекращением вына-шивания на сроке до 37-й нед гестации.…”