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Primate-specific ev...
Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth
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Plunkett, Jevon (author)
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Doniger, Scott (author)
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Morgan, Thomas (author)
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Haataja, Ritva (author)
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Hallman, Mikko (author)
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Puttonen, Hilkka (author)
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Menon, Ramkumar (author)
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Kuczynski, Edward (author)
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Norwitz, Errol (author)
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Snegovskikh, Victoria (author)
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Palotie, Aarno (author)
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Peltonen, Leena (author)
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- Fellman, Vineta (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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DeFranco, Emily A. (author)
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Chaudhari, Bimal P. (author)
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Oates, John (author)
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Boutaud, Olivier (author)
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McGregor, Tracy L. (author)
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McElroy, Jude J. (author)
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Teramo, Kari (author)
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Borecki, Ingrid (author)
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Fay, Justin C. (author)
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Muglia, Louis J. (author)
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(creator_code:org_t)
- 2010-12-24
- 2010
- English.
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In: BMC Medical Genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 3
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Abstract
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- Background: The onset of birth in humans, like other apes, differs from non-primate mammals in its endocrine physiology. We hypothesize that higher primate-specific gene evolution may lead to these differences and target genes involved in human preterm birth, an area of global health significance. Methods: We performed a comparative genomics screen of highly conserved noncoding elements and identified PLA2G4C, a phospholipase A isoform involved in prostaglandin biosynthesis as human accelerated. To examine whether this gene demonstrating primate-specific evolution was associated with birth timing, we genotyped and analyzed 8 common single nucleotide polymorphisms (SNPs) in PLA2G4C in US Hispanic (n = 73 preterm, 292 control), US White (n = 147 preterm, 157 control) and US Black (n = 79 preterm, 166 control) mothers. Results: Detailed structural and phylogenic analysis of PLA2G4C suggested a short genomic element within the gene duplicated from a paralogous highly conserved element on chromosome 1 specifically in primates. SNPs rs8110925 and rs2307276 in US Hispanics and rs11564620 in US Whites were significant after correcting for multiple tests (p < 0.006). Additionally, rs11564620 (Thr360Pro) was associated with increased metabolite levels of the prostaglandin thromboxane in healthy individuals (p = 0.02), suggesting this variant may affect PLA2G4C activity. Conclusions: Our findings suggest that variation in PLA2G4C may influence preterm birth risk by increasing levels of prostaglandins, which are known to regulate labor.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- ref (subject category)
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- By the author/editor
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Plunkett, Jevon
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Doniger, Scott
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Morgan, Thomas
-
Haataja, Ritva
-
Hallman, Mikko
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Puttonen, Hilkka
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show more...
-
Menon, Ramkumar
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Kuczynski, Edwar ...
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Norwitz, Errol
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Snegovskikh, Vic ...
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Palotie, Aarno
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Peltonen, Leena
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Fellman, Vineta
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DeFranco, Emily ...
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Chaudhari, Bimal ...
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Oates, John
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Boutaud, Olivier
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McGregor, Tracy ...
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McElroy, Jude J.
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Teramo, Kari
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Borecki, Ingrid
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Fay, Justin C.
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Muglia, Louis J.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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BMC Medical Geno ...
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Lund University