Source:http://linkedlifedata.com/resource/pubmed/id/19430380
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
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| pubmed:dateCreated |
2009-5-20
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| pubmed:abstractText |
Genetic factors are implicated in pathogenesis of neonatal hyperbilirubinemia. In this nested case-control study, we determined 1) frequency of thymine-adenine (TA)n promoter polymorphism and Gly71Arg mutation in uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene in neonates > or =35-wk gestation presenting with bilirubin levels > or =18 mg/dL and controls, 2) interaction among (TA)n promoter polymorphism, glucose-6-phosphate dehydrogenase (G6PD) gene mutations, and peak bilirubin. The number of TA repeats was assessed by PCR-single-strand conformation polymorphism (SSCP) analysis and Gly71Arg mutation by PCR-RFLP. Fifty samples of both mutations were verified with DNA sequencing. One hundred twenty-seven neonates were enrolled (77 hyperbilirubinemics, 50 controls). The incidence of (TA)n polymorphism was higher in babies with hyperbilirubinemia [89.6% vs. 50%, OR 8.63 (95% CI, 3.2-24.1)]. Gly71Arg mutation was not found either in hyperbilirubinemics or controls. A novel polymorphism (Ala72Pro) at codon position 72 of exon 1 was detected in all 50 samples (21 hyperbilirubinemics, 29 controls), which were sequenced. Presence of variant (TA)n promoter (adjusted OR, 10.6; 95% CI, 3.3-34.2), G6PD deficiency (adjusted OR, 20.6; 95% CI, 3.6-117.3), and history of jaundice in sibling requiring phototherapy (adjusted OR, 12.6; 95% CI, 1.1-141.6) were independent risk factors for bilirubin levels > or =18 mg/dL.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jun
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| pubmed:issn |
1530-0447
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
65
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
675-80
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| pubmed:meshHeading |
pubmed-meshheading:19430380-Base Sequence,
pubmed-meshheading:19430380-Bilirubin,
pubmed-meshheading:19430380-Case-Control Studies,
pubmed-meshheading:19430380-DNA Mutational Analysis,
pubmed-meshheading:19430380-Female,
pubmed-meshheading:19430380-Genetic Predisposition to Disease,
pubmed-meshheading:19430380-Genotype,
pubmed-meshheading:19430380-Gestational Age,
pubmed-meshheading:19430380-Glucosephosphate Dehydrogenase,
pubmed-meshheading:19430380-Glucuronosyltransferase,
pubmed-meshheading:19430380-Humans,
pubmed-meshheading:19430380-Hyperbilirubinemia, Neonatal,
pubmed-meshheading:19430380-India,
pubmed-meshheading:19430380-Infant, Newborn,
pubmed-meshheading:19430380-Jaundice,
pubmed-meshheading:19430380-Molecular Sequence Data,
pubmed-meshheading:19430380-Mutation,
pubmed-meshheading:19430380-Polymorphism, Genetic,
pubmed-meshheading:19430380-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:19430380-Pregnancy,
pubmed-meshheading:19430380-Promoter Regions, Genetic,
pubmed-meshheading:19430380-Repetitive Sequences, Nucleic Acid
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| pubmed:year |
2009
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| pubmed:articleTitle |
UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia.
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| pubmed:affiliation |
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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