Exploring the genetic architecture of neonatal hyperbilirubinemia

被引：55

作者：

Watchko, Jon F. ^{[1
]}

Lin, Zhili ^{[2
]}

机构：

[1] Univ Pittsburgh, Sch Med, Magee Womens Res Inst, Dept Pediat,Div Newborn Med, Pittsburgh, PA 15213 USA

[2] Perkin Elmer Genet, Bridgeville, PA 15017 USA

来源：

SEMINARS IN FETAL & NEONATAL MEDICINE | 2010年 / 15卷 / 03期

关键词：

Compound heterozygosity; Genetics; Glucose-6-phosphate dehydrogenase (G6PD); Hyperbilirubinemia; Solute carrier organic anion transporter polypeptide 1B1 (SLCO1B1); Uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1); PROLONGED UNCONJUGATED HYPERBILIRUBINEMIA; UDP-GLUCURONOSYLTRANSFERASE GENE; HEME OXYGENASE-1 GENE; TRANSFERASE; 1A1; GENE; UGT1A1; GILBERTS-SYNDROME; CRIGLER-NAJJAR; GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY; BILIRUBIN CONCENTRATION; MISSENSE MUTATION;

D O I：

10.1016/j.siny.2009.11.003

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. In particular, polymorphisms across three genes involved in bilirubin production and metabolism [glucose-6-phosphate dehydrogenase (G6PD), uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), and solute carrier organic anion transporter polypeptide 1B1 (SLCO1B1)] may interact with each other and/or environmental contributors to produce significant hyperbilirubinemia. Variant gene co-expression including compound and synergistic heterozygosity enhances hyperbilirubinemia risk, contributing to the etiologic heterogeneity and complex nature of neonatal jaundice. (C) 2009 Elsevier Ltd. All rights reserved.

引用

页码：169 / 175

页数：7

共 111 条

[1] UGT1A1 Gene Polymorphisms in North Indian Neonates Presenting with Unconjugated Hyperbilirubinemia [J].

Agrawal, Sunil K. ;

Kumar, Praveen ;

Rathi, Ritu ;

Sharma, Neeraj ;

Das, Reena ;

Prasad, Rajendra ;

Narang, Anil .

PEDIATRIC RESEARCH, 2009, 65 (06) :675-680

[2]

Akaba K, 1998, BIOCHEM MOL BIOL INT, V46, P21

[3] IDENTIFICATION OF DEFECT IN THE GENES FOR BILIRUBIN UDP-GLUCURONOSYL-TRANSFERASE IN A PATIENT WITH CRIGLER-NAJJAR SYNDROME TYPE-II [J].

AONO, S ;

YAMADA, Y ;

KEINO, H ;

HANADA, N ;

NAKAGAWA, T ;

SASAOKA, Y ;

YAZAWA, T ;

SATO, H ;

KOIWAI, O .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 197 (03) :1239-1244

[4]

ARMITAGE P, 1953, J OBSTET GYN BRIT EM, V60, P605

[5] Gilbert syndrome accelerates development of neonatal jaundice [J].

Bancroft, JD ;

Kreamer, B ;

Gourley, GR .

JOURNAL OF PEDIATRICS, 1998, 132 (04) :656-660

[6] Brain sexual differentiation and gonadotropins secretion in the rat [J].

Becú-Villalobos, D ;

Iglesias, AG ;

Díaz-Torga, G ;

Hockl, P ;

Libertun, C .

CELLULAR AND MOLECULAR NEUROBIOLOGY, 1997, 17 (06) :699-715

[7] Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter:: A balanced polymorphism for regulation of bilirubin metabolism? [J].

Beutler, E ;

Gelbart, T ;

Demina, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) :8170-8174

[8] G6PD DEFICIENCY [J].

BEUTLER, E .

BLOOD, 1994, 84 (11) :3613-3636

[9] Glucose-6-phosphate dehydrogenase deficiency: a historical perspective [J].

Beutler, Ernest .

BLOOD, 2008, 111 (01) :16-24

[10] Kernicterus: Epidemiological strategies for its prevention through systems-based approaches [J].

Bhutani V.K. ;

Johnson L.H. ;

Maisels M.J. ;

Newman T.B. ;

Phibbs C. ;

Stark A.R. ;

Yeargin-Allsopp M. .

Journal of Perinatology, 2004, 24 (10) :650-662

← 1 2 3 4 5 6 7 8 9 10 →