ArticlePloS one2012
A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- Regulation of term and preterm labor: genetics and epigenetics.Frontiers in genetics · 2025Article
- Mechanisms of Immune Tolerance and Inflammation via Gonadal Steroid Hormones in Preterm Birth.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2023Article
- Genetics, epigenetics, and transcriptomics of preterm birth.American journal of reproductive immunology (New York, N.Y. : 1989) · 2022Review
- Human placental proteomics and exon variant studies link AAT/SERPINA1 with spontaneous preterm birth.BMC medicine · 2022Article
- Systematic review of preterm birth multi-omic biomarker studies.Expert reviews in molecular medicine · 2022Review
- The Preventive Effects of Quercetin on Preterm Birth Based on Network Pharmacology and Bioinformatics.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.Scientific reports · 2021Article
- Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes.NPJ genomic medicine · 2021Review
- Spontaneous premature birth as a target of genomic research.Pediatric research · 2019Review
- Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.PLoS genetics · 2018Article
- Spontaneous preterm birth: advances toward the discovery of genetic predisposition.American journal of obstetrics and gynecology · 2018Review
- A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth.Scientific reports · 2018Article
- Genomics of preterm birth.Cold Spring Harbor perspectives in medicine · 2015Review
- Insights into genetic susceptibility in the etiology of spontaneous preterm birth.The application of clinical genetics · 2015Review
- Article
- A study of genes encoding cytokines (IL6, IL10, TNF), cytokine receptors (IL6R, IL6ST), and glucocorticoid receptor (NR3C1) and susceptibility to bronchopulmonary dysplasia.BMC medical genetics · 2014Article
- Preterm birth prevention: how well are we really doing? A review of the latest literature.Journal of obstetrics and gynaecology of India · 2014Review
- The contribution of genetic and environmental factors to the duration of pregnancy.American journal of obstetrics and gynecology · 2014Review
- PSEUDOMARKER 2.0: efficient computation of likelihoods using NOMAD.BMC bioinformatics · 2014Article
- The genomics of preterm birth: from animal models to human studies.Genome medicine · 2013Review
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
Preterm birth is the major cause of neonatal mortality and morbidity. In many cases, it has severe life-long consequences for the health and neurological development of the newborn child. More than 50% of all preterm births are spontaneous, and currently there is no effective prevention. Several studies suggest that genetic factors play a role in spontaneous preterm birth (SPTB). However, its genetic background is insufficiently characterized. The aim of the present study was to perform a linkage analysis of X chromosomal markers in SPTB in large northern Finnish families with recurrent SPTBs. We found a significant linkage signal (HLOD = 3.72) on chromosome locus Xq13.1 when the studied phenotype was being born preterm. There were no significant linkage signals when the studied phenotype was giving preterm deliveries. Two functional candidate genes, those encoding the androgen receptor (AR) and the interleukin-2 receptor gamma subunit (IL2RG), located near this locus were analyzed as candidates for SPTB in subsequent case-control association analyses. Nine single-nucleotide polymorphisms (SNPs) within these genes and an AR exon-1 CAG repeat, which was previously demonstrated to be functionally significant, were analyzed in mothers with preterm delivery (n = 272) and their offspring (n = 269), and in mothers with exclusively term deliveries (n = 201) and their offspring (n = 199), all originating from northern Finland. A replication study population consisting of individuals born preterm (n = 111) and term (n = 197) from southern Finland was also analyzed. Long AR CAG repeats (≥ 26) were overrepresented and short repeats (≤ 19) underrepresented in individuals born preterm compared to those born at term. Thus, our linkage and association results emphasize the role of the fetal genome in genetic predisposition to SPTB and implicate AR as a potential novel fetal susceptibility gene for SPTB.
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