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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans
Proceedings of the National Academy of Sciences of the United States of America, Volume 103, No. 36, Year 2006
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Description
Prematurity is more prevalent in African Americans than in European Americans. We investigated the contribution of a functional SNP in the promoter of the SERPINH1 gene, enriched among those of African ancestry, to preterm premature rupture of membranes (PPROM), the leading identifiable cause of preterm birth. SERPINH1 encodes heat-shock protein 47, a chaperone essential for collagen synthesis. The SERPINH1 -656 minor T allele had a greater frequency in African populations and African Americans than in European Americans (12.4% vs. 4.1%). The -656 T allele displayed significantly reduced promoter activity compared to the major -656 C allele in amnion fibroblasts, which lay down the fibrillar collagen that gives tensile strength to the amnion. An initial case-control study demonstrated that the -656 T allele is significantly more frequent in African-American neonates (P < 0.0009) born from pregnancies complicated by PPROM compared with controls (odds ratio of 3.22, 95% confidence interval 1.50, 7.22). There was no significant difference in ancestry among cases and controls using a dihybrid model based on 29 ancestry-informative markers. Adjusting the results of the case-control study for admixture still yielded a statistically significant association between the -656 T allele and PPROM (P < 0.002). A follow-up case-control study gave similar results. The combined case-control findings showed a highly significant (P < 0.0000045) association between the -656 T allele and PPROM. The SERPINH1 -656 T allele is the first example of an ancestry-informative marker associated with preterm birth in African Americans. © 2006 by The National Academy of Sciences of the USA.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC1557384/bin/pnas_0603676103_index.html
https://efashare.b-cdn.net/share/pmc/articles/PMC1557384/bin/pnas_0603676103_1.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC1557384/bin/pnas_0603676103_2.pdf
Authors & Co-Authors
Macones, George A.
United States, Philadelphia
University of Pennsylvania
Kuivaniemi, Helena
United States, Detroit
Wayne State University School of Medicine
Tromp, Gerard C.
United States, Detroit
Wayne State University School of Medicine
Argyropoulos, George A.
United States, Baton Rouge
Pennington Biomedical Center
Shriver, Mark D.
United States, University Park
Pennsylvania State University
Romero, Roberto J.
United States, Detroit
Hutzel Women's Hospital
Strauss, Jerome F.Iii
United States, Philadelphia
University of Pennsylvania
United States, Richmond
Virginia Commonwealth University
Statistics
Citations: 91
Authors: 7
Affiliations: 6
Identifiers
Doi:
10.1073/pnas.0603676103
ISSN:
00278424
Research Areas
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study
Case-Control Study