Abstract | BACKGROUND: METHODS: A total of 101 intrahepatic cholestasis of pregnancy patients and 171 healthy pregnant women in the third trimester of their pregnancies were included. Four tag single nucleotide polymorphisms (SNPs) (rs12488820 C/T, rs2472671 C/T, rs2461823 A/G, and rs1054191 A/G) encompassing 36 kb in chromosome 3, with a minor allele frequency > or =0.10 and representing 33 polymorphic sites were genotyped. Besides these, three additional SNPs (rs3814057, rs6785049, and rs7643645) were included because they showed previous evidence of functionality. RESULTS: Genotypic test for single SNPs showed that rs2461823 genotypes were significantly associated with intrahepatic cholestasis of pregnancy (P < 0.0069), OR per G allele: 1.44, 95% CI: 1.01-2.05, P < 0.042. The Cochran-Armitage test for trend and the allelic test showed a significant association with disease status (P < 0.04 and 0.03 respectively), G being the risk allele. A positive association between rs2461823 and ALT, AST, and bilirubin concentrations was observed. Neonate birth weight adjusted by the Capurro index was significantly associated with rs2461823 (P < 0.05); the proportion of the total variation attributed to rs2461823 genotypes was 7.8%. CONCLUSION:
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Authors | G Castaño, A Burgueño, T Fernández Gianotti, C J Pirola, S Sookoian |
Journal | Alimentary pharmacology & therapeutics
(Aliment Pharmacol Ther)
Vol. 31
Issue 5
Pg. 583-92
(Mar 2010)
ISSN: 1365-2036 [Electronic] England |
PMID | 19958310
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Bile Acids and Salts
- Pregnane X Receptor
- Receptors, Steroid
- Xenobiotics
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Topics |
- Adult
- Analysis of Variance
- Bile Acids and Salts
(metabolism)
- Birth Weight
- Cholestasis, Intrahepatic
(epidemiology, genetics, metabolism)
- Chromosomes, Human, Pair 3
(genetics)
- Female
- Gene Frequency
(genetics)
- Genetic Association Studies
- Genetic Predisposition to Disease
(epidemiology)
- Genetic Variation
- Gestational Age
- Homeostasis
- Humans
- Incidence
- Infant, Newborn
- Polymorphism, Single Nucleotide
(genetics)
- Pregnancy
- Pregnancy Complications
(epidemiology, genetics, metabolism)
- Pregnancy Trimester, Third
- Pregnane X Receptor
- Receptors, Steroid
(genetics)
- Seasons
- South America
(epidemiology)
- Xenobiotics
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