Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia
- Author:
Fei-Liang Wong
;
Nem-Yun Boo
;
Ainoon Othman
;
May-Kay Wang
- Publication Type:Journal Article
- Keywords:
OATP2 variants, severe neonatal hyperbilirubinemia
- From:The Malaysian Journal of Pathology
2009;31(2):99-104
- CountryMalaysia
- Language:English
-
Abstract:
Objectives: This study aimed to determine the prevalence of four variants of organic anion
transporter polypeptide 2 (OATP2) gene, and their association with severe hyperbilirubinemia.
Design: Observational study. Setting: A tertiary university unit. Patients: Term infants of Chinese
descent. Methods: 175 infants, consisting of 65 admitted for treatment of severe hyperbilirubinemia
(with serum bilirubin levels > 250 mmol/L at age 1-2 days or > 300 μmol/L at age ≥ 3 days) and
110 randomly selected inborn infants without severe hyperbilirubinemia during their fi rst month
of life, were recruited. Their blood samples were subjected to sequencing analysis of exon 4 and
exon 5 of OATP2 gene for detection of c.388A>G, c.521T>C, c.571T>C and c.597C>T variants.
Results: The c.388A>G variant was the most common, and the c.521 T>C was least common,
being present in 90.9% and 26.9% of the infants, respectively. Forward logistic regression analysis
showed that the only signifi cant risk factors associated with severe hyperbilirubinemia among these
Chinese infants were: exclusive breast feeding (adjusted odds ratio (OR) = 12.5, 95% C.I.: 2.9,
53.4; p=0.001), infants with homozygous 211 variant of the UDPG 1A1 gene (adjusted OR = 37.7,
95% C.I.: 4.4, 324.1; p=0.001), and G6PD enzyme level <8.5 IU/g Hb (adjusted OR = 7.3, 95%
C.I.: 3.1, 17.5; p<0.00001). Gestational age, G6PD mutation status, actual G6PD enzyme level,
and the 4 variants of the OATP2 gene mutation were not signifi cant risk factors. Conclusion:
Variants of OATP2 gene were not signifi cant risk factors associated with severe hyperbilirubinemia
in Malaysian Chinese infants.
- Full text:W020151203568498139816.pdf
