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Background  (TA) n repeat sequence (rs8175347) of  UGT1A1  gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on  UGT1A1  polymorphisms and their impact on Nigerian SCA patients. In this study, we determined the distribution of the  UGT1A1  (TA) n genotypes among a group of young Nigerian SCA patients and healthy controls. In addition, the influence of  UGT1A1  (TA) n genotypes on the laboratory and clinical events among the patients was determined.    Methods  The distribution of the  UGT1A1  (TA) n genotypes among 101 young Nigerian SCA patients and 64 normal appropriate controls were determined and studied. The  UGT1A1  (TA) n genotypes were further classified into subgroups and used to differentiate the clinical events and laboratory parameters of the patients.    Results  Four (TA) n alleles:(TA)5, 6, 7, and 8 were found. These were associated with 10 genotypes: TA5/5, 5/6, 5/7, 5/8, 6/6, 6/7, 6/8, 7/7, 7/8, 8/8. The normal (wild-type)-(TA) 6/6), low- (TA) 7/7, 7/8, 8/8), intermediate- (TA) 5/7, 5/8, 6/7, 6/8), and high-activity (TA) 5/5, 5/6,) genotypes were found in 24.8, 24.8, 41.5, and 8.9% patients and 20.3, 15.6, 61, and 3.1% controls respectively. The general genotype distribution of the patients and control group were not significantly different. There were significant differences in serum bilirubin and lactate dehydrogenase (LDH) of the patients when differentiated by the  UGT1A1  (TA) n genotypes ( p <0.05). Asymptomatic gallstones were found in 5.9% of patients and were significantly of the low-activity genotypes sub-group 5 (20%) vs 1(1.3%)  p  = 0.0033. Although, bilirubin and fetal hemoglobin (HbF) of patients with gallstones were significantly different from those without gallstone, only the serum bilirubin was associated with  UGT1A1  (TA) n genotypes on multivariate analysis ( p  < 0.0001).    Conclusion  This study highlights the contribution of  UGT1A1  polymorphisms, a non-globin genetic factor, to the laboratory and clinical manifestations of young Nigerian SCA patients for the first time. It also shows that children with co-inheritance of low  UGT1A1  (TA) n affinity genotypes may be at risk of gallstone, hence the need to follow them up.

bmc medical genetics

Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria