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Titolo:
Maternal susceptibility locus for obstetric cholestasis maps to chromosomeregion 2p13 in Finnish patients
Autore:
Heinonen, S; Eloranta, ML; Heiskanen, J; Punnonen, K; Helisalmi, S; Mannermaa, A; Hiltunen, M;
Indirizzi:
Kuopio Univ Hosp, Dept Obstet & Gynecol, FIN-70211 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland FIN-70211 col, FIN-70211 Kuopio, Finland Kuopio Univ Hosp, Dept Clin Chem, FIN-70211 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland FIN-70211 hem, FIN-70211 Kuopio, Finland Kuopio Univ Hosp, Chromosome & DNA Lab, FIN-70211 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland FIN-70211 Lab, FIN-70211 Kuopio, Finland Kuopio Univ Hosp, Div Diagnost Serv, FIN-70211 Kuopio, Finland Kuopio UnivHosp Kuopio Finland FIN-70211 erv, FIN-70211 Kuopio, Finland Kuopio Univ Hosp, Dept Neurol, FIN-70211 Kuopio, Finland Kuopio Univ HospKuopio Finland FIN-70211 rol, FIN-70211 Kuopio, Finland
Titolo Testata:
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
fascicolo: 7, volume: 36, anno: 2001,
pagine: 766 - 770
SICI:
0036-5521(200107)36:7<766:MSLFOC>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
ESTROGEN-INDUCED CHOLESTASIS; SALT EXPORT PUMP; INTRAHEPATIC CHOLESTASIS; RAT-LIVER; PREGNANCY; EXPRESSION; ACTIN; GENES; DISEASE;
Keywords:
chromosome 2; genetics; obstetric cholestasis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Heinonen, S Kuopio Univ Hosp, Dept Obstet & Gynecol, FIN-70211 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland FIN-70211 11 Kuopio, Finland
Citazione:
S. Heinonen et al., "Maternal susceptibility locus for obstetric cholestasis maps to chromosomeregion 2p13 in Finnish patients", SC J GASTR, 36(7), 2001, pp. 766-770

Abstract

Background: Obstetric cholestasis, attributed to maternal hypersensitivityto estrogens, is a pregnancy-specific disorder characterized by pruritus and biochemical cholestasis in the second or third trimester of pregnancy. The pathophysiology of the disorder is incompletely understood, but the familial nature of the disease has long been recognized. Carriership of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency has been reported to be associated with an increased risk of obstetric cholestasis and the gene is located in the p23 region of chromosome 2. Methods: On the basisof this information, we conducted population-based linkage disequilibrium (LD) screening to find potential cholestasis-associated loci on chromosome 2. The study was carried out in 47 unrelated control women and in 45 cholestatic women, eight of whom had a positive family history. Results: During initial screening with chromosome 2-specific microsatellite markers, the tetranucleotide marker D2S1394 was found to be in LD in the 2p13 region. Screening this region with additional microsatellite markers revealed that the adjacent marker D2S1374 was also significantly associated with obstetric cholestasis, whereas no association was found with the markers located in the vicinity of the hydroxyacyl-CoA dehyrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, alpha subunit (HADHA) gene. Conclusions: Collectively, thesedata suggest that there may be a novel obstetric cholestasis-associated gene located in the vicinity of the 2p13 LD region.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 12:30:25