›› 2018, Vol. 36 ›› Issue (9): 649-.doi: 10.3969/j.issn.1000-3606.2018.09.001

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Association between SLCO1B1 gene polymorphism and neonatal hyperbilirubinemia

JIANG Yuhui1, LIU Ling2, XI Ming2, ZHANG Fengquan1   

  1. 1.The Second People’s Hospital of Yunnan, Kunming 650021, Yunnan, China; 2.Kunming Children’s Hospital, Kunming 650221, Yunnan, China
  • Received:2018-09-15 Online:2018-09-15 Published:2018-09-15

Abstract:  Objective To explore the correlation between single nucleotide polymorphisms of SLCO1B1 (encoding gene of organic anion transporting polypeptide 1B1, OATP1B1) and neonatal hyperbilirubinemia. Method A total of 300 cases of neonatal hyperbilirubinemia were randomly selected as case group from September 2014 to September 2016, and 300 cases of matched neonates without hyperbilirubinemia were randomly selected as the control group. Genomic DNA was extracted and Sequenom specific SNP loci were used to detect gene polymorphisms of SLCO1B1 rs59502379, rs56101265, rs72559748, rs72559745, rs56061388, rs55901008, rs4149056 and rs56199088, and the difference between the two groups was analyzed. Results Gene polymorphisms of SLCO1B1 rs59502379, rs56101265, rs72559745, rs56061388, rs55901008 and rs56199088 were not found. The allele gene frequency of SLCO1B1 rs4149056 was 12% in case group and 11% in control group and there was no significant difference between two groups (P>0.05). The allele gene frequency of SLCO1B1 rs72559748 in case group was 2.5%, lower than that of control group (5.2%). It was suggested that the mutation of SLCO1B1 rs72559748 was not associated with neonatal hyperbilirubinemia. Conclusions No polymorphism was detected at the sites rs59502379, rs56101265, rs72559745, rs56061388, rs55901008 and rs56199088 of the OATP1B1 coding gene SLCO1B1. Polymorphism of SLCO1B1 rs4149056 and rs72559748 was found and it was not associated with neonatal hyperbilirubinemia.