UGT1A1 gene mutation as a marker indicating there is a high risk of Gilbert's syndrome: Theoretical and applied aspects
A.N. Volkov1,2, E.V. Tsurkan2
1Kemerovo State Medical University, 22A Voroshilova Str., Kemerovo, 650056, Russian Federation
2Kemerovo Regional Clinical Hospital, 22 Oktyabr'skii Avenue, Kemerovo, 650000, Russian Federation
Gilbert's syndrome is a widely spread multi-factor pathology which is to a great extent genetically determined. Its basic etiological factor is lower activity of a liver enzyme, UDP-glucuronosyltransferase A1, caused by mutations in UGT1A1 gene. Functional disorders in the liver cause dyspepsia and concurrent acute and chronic diseases in the digestive system. The research goal was to substantiate the necessity and possibility to conduct mass examinations of population with molecular and genetic analysis of UGT1A1 gene in order to reveal Gilbert's syndrome. The authors performed molecular and genetic examination of UGT1A1 gene rs8175347 marker in 132 people living in Kemerovo region (population sampling) as well as in 71 patients who were supposed to have Gilbert's syndrome (clinical sampling).
Frequency of 28/28 mutant genotype of UGT1A1 gene associated with Gilbert's syndrome amounted to 13.6 % in the population sampling and it is quite consistent with previously published data. Therefore, a considerable rate of population includes people with potential or already revealed Gilbert's syndrome. Age structure of patients in the clinical group with 28/28 genotype revealed there was a wide spread of an age at which the diseases was first detected due to its apparent manifestation; age varied from 4 to 71 years with its modal value being equal to 15 years. Basing on the obtained data, it is suggested to implement mass examinations aimed at revealing Gilbert's syndrome at its prenosological stage; such examinations can be based on molecular-genetic technologies. When children aged 7-10 are comprehensively examined, they can also undergo genetic diagnostics aimed at revealing any mutations in UGT1A1 gene. Obtained genetic data can be taken into account by medical personnel with relevant medical specializations when they determine strategies aimed at preventing and curing Gilbert's syndrome.
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