Study of molecular genetic markers of Gilbert’s syndrome

Abstract

Aim. To study new molecular genetic markers of Gilbert’s syndrome (GS).Materials and methods. It was a case – control study. The GS group included 125 people (mean age 38.5 ± 11.9 years, 58.9% were men) with unconjugated hyperbilirubinemia; known causes of unconjugated hyperbilirubinemia were excluded. The control group (n = 323, mean age 48.9 ± 11.9 years, 53.2% were men) was a random sample of individuals from the DNA bank of participants of the HAPIEE and MONICA projects. DNA was isolated by phenol – chloroform extraction from venous blood. Genotyping of groups by rs3064744, rs34993780, rs56059937, rs4148323, and rs4124874 single nucleotide polymorphisms (SNPs) in the UGT1A1 gene was performed by polymerase chain reaction followed by the polyacrylamide gel analysis according to the author’s protocols.Results. For rs34993780 and rs56059937, no carriers of a rare allele were found in the GS group and the control group. In the GS group, two carriers of a heterozygous mutation rs4148323 were found. Statistically significant differences between the groups were found in the frequencies of rs4124874: homozygous GG was statistically significantly more common in the GS group than in the control group (odds ratio (OR) = 11.8, 95% confidence interval (CI) 6.9–20.3, p < 0.001).Conclusion. The GG genotype of rs4124874 in the UGT1A1 gene is associated with an increased risk of GS. Carriers of the rare heterozygous mutation rs4148323 were found in the GS group.