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A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans

dc.contributor.authorWang, Hongyan
dc.contributor.authorParry, Samuel
dc.contributor.authorMacones, George
dc.contributor.authorSammel, Mary D.
dc.contributor.authorKuivaniemi, Helena
dc.contributor.authorTromp, Gerard
dc.contributor.authorArgyropoulos, George
dc.contributor.authorHalder, Indrani
dc.contributor.authorShriver, Mark D.
dc.contributor.authorRomero, Roberto
dc.contributor.authorStrauss, Jerome F., III
dc.date.accessioned2019-08-14T15:00:08Z
dc.date.available2019-08-14T15:00:08Z
dc.date.issued2006
dc.identifierhttps://doi.org/10.13016/hbqc-phrm
dc.identifier.citationWang, Hongyan and Parry, Samuel and Macones, George and Sammel, Mary D. and Kuivaniemi, Helena and Tromp, Gerard and Argyropoulos, George and Halder, Indrani and Shriver, Mark D. and Romero, Roberto and Strauss, Jerome F., III (2006) A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans. PNAS, 103 (36). pp. 13463-13467.
dc.identifier.otherEprint ID 699
dc.identifier.urihttp://hdl.handle.net/1903/22725
dc.description.abstractPrematurity 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.
dc.description.urihttps://www.pnas.org/content/103/36/13463
dc.subjectDisparities
dc.subjectPrenatal & Pediatric Health
dc.subjectGenetics and Race
dc.subjectPrematurity
dc.subjectSERPINH1 gene
dc.subjectAfrican ancestry
dc.subjectneonates
dc.subjectancestry-informative markers
dc.subjectpreterm birth
dc.subjectAfrican Americans
dc.titleA functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans
dc.typeArticle


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