Details

Autor(en) / Beteiligte

• Zhang, Meng
• Wang, Hongwu
• Huang, Yuancheng
• Xu, Xin
• Liu, Wei
• Ning, Qin
• Chen, Tao
• Qi, Junying

Titel

Compound heterozygous UGT1A128 and UGT1A16 or single homozygous UGT1A128 are major genotypes associated with Gilbert’s syndrome in Chinese Han people

Ist Teil von

• Gene, 2021-05, Vol.781, p.145526-145526, Article 145526

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2021

Quelle

MEDLINE

Beschreibungen/Notizen

• •Heterozygous UGT1A1*28 and *6 or homozygous UGT1A1*28 results in Chinese Han with GS.•Single heterozygous UGT1A1*6 or UGT1A1*28 are major genotypes in the non-GS group.•Homozygous UGT1A1*28 is associated with the highest risks of hyperbilirubinemia.•The STB level of GS with the single homozygous UGT1A1*28 is remarkably high.•The distribution of UGT1A1*28, UGT1A1*6, and UGT1A1*7 is related to STB levels. Gilbert’s syndrome (GS) is a mild condition characterized by periods of hyperbilirubinemia, which results in variations in the UDP-glucuronosyltransferase 1 (UGT1A1) gene. Variant genotypes of UGT1A1 vary in different populations in the world. The present study aimed to determine the genotype of the UGT1A1 promoter and exon that are related to the serum total bilirubin (STB) level in the Chinese Han population. A total of 120 individuals diagnosed with GS (GS group) and 120 healthy individuals (non-GS group) were enrolled. Routine blood, liver function tests, and antibodies associated with autoimmune liver diseases were assessed. Blood samples were collected for DNA purification. Sequencing of the UGT1A1 promoter and exons was conducted for post segment amplification by PCR. Compound heterozygous UGT1A1*28 and UGT1A1*6 (25/120, 20.83%), single homozygous UGT1A1*28 (24/120, 20.00%) and single heterozygous UGT1A1*6 (18/120, 15.00%) were the most frequent genotypes in the GS group. However, single heterozygous UGT1A1*6 (30/120, 25.00%) and single heterozygous UGT1A1*28 (19/120, 15.83%) were the most frequent genotypes in the non-GS group. Further, the frequencies of single homozygous UGT1A1*28, compound heterozygous UGT1A1*28 and UGT1A1*6, and compound heterozygous UGT1A1*28, UGT1A1*6 and UGT1A1*27 were significantly higher in the GS group than those in the non-GS group. The STB levels of GS patients with the homozygous UGT1A1*28 genotype were remarkably higher than those of patients with other genotypes. Homozygous UGT1A1*28 and heterozygous UGT1A1*6 variants were associated with the highest and lowest risks of hyperbilirubinemia, respectively. Our study revealed that compound heterozygous UGT1A1*28 and UGT1A1*6, or single homozygous UGT1A1*28 are major genotypes associated with GS in Chinese Han people. These findings might facilitate the precise genomic diagnosis of Gilbert’s syndrome.