Prevalence of Gilbert syndrome and UGT1A1*28 status in the Czech population, and their relationship to ischemic heart disease

Kadlckova, Lenka; Danzig, Vilém; Cífková, Renata; Linhart, Aleš; Hubacek, Jaroslav A.; Galovcová, Markéta; Bělohoubek, Jiří; Adámková, Věra; Jirásková, Alena; Vı́tek, Libor

doi:10.1016/j.atherosclerosis.2014.05.858

Cited by 2 publications

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“…Chinese and Japanese) appear to have the lowest circulating bilirubin concentrations (prevalence of GS $2%), whereas individuals originating from India, Southern Asia and the Middle East demonstrate significantly increased rates of GS, approximating $20% (Figure 2). Caucasian ethnicity is associated with a 2-10% prevalence of GS [19][20][21][22][23][24][25][26][27]. Increased circulating unconjugated bilirubin is strongly associated with polymorphisms that decrease inducibility in genes controlling bilirubin conjugation (i.e.…”

Section: Bilirubin Biology -An Evolutionary Perspectivementioning

confidence: 99%

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Diagnostic criteria and contributors to Gilbert’s syndrome

Wagner

Shiels

Lang

et al. 2018

Critical Reviews in Clinical Laboratory Sciences

109

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Hyperbilirubinemia is a well-known condition in the clinical setting; however, the causes of elevated serum bilirubin are diverse, as are the clinical ramifications of this condition. For example, diagnoses of individuals vary depending on whether they exhibit an unconjugated or conjugated hyperbilirubinemia. Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary malignancy. Assessment of bilirubin concentrations is typically conducted as part of routine liver function testing. Mildly elevated total bilirubin with normal serum activities of liver transaminases, biliary damage markers, and red blood cell counts, however, may indicate the presence of Gilbert's syndrome (GS), a benign condition that is present in $5-10% of the population. In this case, mildly elevated unconjugated bilirubin in GS is strongly associated with "reduced" prevalence of chronic diseases, particularly cardiovascular diseases (CVD) and type 2 diabetes mellitus (and associated risk factors), as well as CVD-related and all-cause mortality. These reports challenge the dogma that bilirubin is simply a potentially neurotoxic by-product of heme catabolism and emphasize the importance of understanding its potential beneficial physiologic and detrimental pathophysiologic effects, in order to appropriately consider bilirubin test results within the clinical laboratory setting. With this information, we hope to improve the understanding of disorders of bilirubin metabolism, emphasize the diagnostic importance of these conditions, and outline the potential impact GS may have on resistance to disease.

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Section: Bilirubin Biology -An Evolutionary Perspectivementioning

confidence: 99%

“…Geographical prevalence of benign hyperbilirubinemia (GS) in articles reporting TB concentrations (i.e. data are not derived from genetic analysis) in the general population [19][20][21][22][23][24][25][26][27].…”

Section: Bilirubin -Two Sides Of a Coinmentioning

confidence: 99%

Diagnostic criteria and contributors to Gilbert’s syndrome

Wagner

Shiels

Lang

et al. 2018

Critical Reviews in Clinical Laboratory Sciences

109

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“…Частота 7(ТА)\7(ТА) генотипу, % Опубліковані дані Чехія 6,7 Kadlckova et al, 2014Німеччина 8,6 Sieg et al, 1987Іран 19,1 Hemmati et al, 2010Великобританія 0,6-3,0 Claridge et al, 2011Сербія 18,2 Vukovic et al, 2018Хорватія 9,8 Marinković et al, 2008Словаччина 13,6 Mlakar, Ostanek, 2011Африка 43 Kaniwa et al, 2005 14,6 Haiboniuk, 2019…”

Section: країнаunclassified

Analysis of the low functional allele 7(TA) of the UGT1A1 gene in healthy population in the Western region of Ukraine

2019

The Journal of v. N. Karazin Kharkiv National University, Series "Biology"

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Gilbert's syndrome, GS (non-hemolytic anemia) is a pathological condition caused by enzyme (uridine diphosphate glucuronosyltransferase) failure to degrade bilirubin because of UGT1A1 gene mutations, which generally are TA insertions in the promoter region. Disorder entails constantly high level of bilirubin in the blood, and its toxicity causes symptoms manifestation. The pathology doesn’t require therapy, but it increases the risk of concomitant disorders and requires a special approach when prescribing therapy with drugs. The frequency of Gilbert's syndrome ranges from 0.6% to 43% worldwide, the frequency in Ukraine is not known exactly. Thus, the aim of the work was, based on analysis of published data, to study the world distribution of Gilbert's syndrome risk alleles, to find their associations with other pathological conditions, and to establish the frequency of the low-functional allele and various genotypes in TA [A(TA)6TAA] locus of UGT1A1 gene among residents of the Western region of Ukraine. Blood samples from 130 healthy residents of the Western region of Ukraine were collected, DNA samples were isolated by salting method. DNA amplification was performed by PCR followed by 10% PAG analysis and HRM analysis (high resolution melting). The pathogenic allele frequency was 34.3%, the frequency of the ancestral allele was 65.7%. The frequency of the mutant homozygous genotype was 14.6%, which coincides with published data. The frequency of the mutant genotype equals 8–18% for European countries, so our data coincide with results of population studies of European countries residents. It should be noted that these 14.6% of population are of high risk of concomitant disorders, such as colorectal cancer in men, breast cancer in women, diseases of the gastrointestinal tract, biliary calculus and formation of kidney stones. Thus, it is advisable to analyze 7(TA) alleles (risk alleles for Gilbert's syndrome) of the UGT1A1 gene in patients with hyperbilirubinemia of undetermined origin to diagnose Gilbert's syndrome.

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Prevalence of Gilbert syndrome and UGT1A1*28 status in the Czech population, and their relationship to ischemic heart disease

Cited by 2 publications

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Diagnostic criteria and contributors to Gilbert’s syndrome

Diagnostic criteria and contributors to Gilbert’s syndrome

Analysis of the low functional allele 7(TA) of the UGT1A1 gene in healthy population in the Western region of Ukraine

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