UGT1A1 Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia

Skierka, Jennifer M.; Kotzer, Katrina E.; Lagerstedt, Susan A.; O’Kane, Dennis J.; Baudhuin, Linnea M.

doi:10.1016/j.jpeds.2012.11.042

Cited by 45 publications

(31 citation statements)

References 33 publications

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“…The reported mutation types of the UGT1A1 gene include insertion, deletion, missense, nonsense, and synonymous mutations (12). In this study, (TA)7 insertion, 211G>A (G71R) …”

Section: Discussionmentioning

confidence: 77%

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UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

Zhong

Xie

et al. 2015

Pediatr Res

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Articles Population Study nature publishing groupBackground: Uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene mutation was shown to be responsible for neonatal hyperbilirubinemia. This study aimed to investigate whether UGT1A1 gene mutation is associated with neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations. Methods: Two hundred and eighteen infants with hyperbilirubinemia (118 Heiyi Zhuang, 100 Han) and 190 control subjects (110 Heiyi Zhuang, 80 Han) were enrolled. Polymerase chain reaction and gene sequencing were used to detect the TATA-box and exon 1 of UGT1A1. results: (TA)7 insertion mutation, 211G>A (G71R), 686C>A (P229Q), and 189C>T (D63D) were detected. Logistic regression analysis showed odds ratios (OR) of 2.64 (95% confidence interval (CI) 1.64-4.24; P < 0.001) and 0.69 (95%CI 0.43-1.10; P = 0.115) for neonates who carried UGT1A1 G71R and (TA)7 insertion mutation, respectively. G71R homozygosity increased the odds of dangerous bilirubin levels by a factor 34.23, and G71R heterozygosity only by 2.10. conclusion: We found that UGT1A1 G71R mutation is a risk factor for neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations. Meanwhile, the UGT1A1 (TA)7 insertion mutation is not associated with neonatal hyperbilirubinemia in the two ethnic groups.

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“…The reported mutation types of the UGT1A1 gene include insertion, deletion, missense, nonsense, and synonymous mutations (12). In this study, (TA)7 insertion, 211G>A (G71R) …”

Section: Discussionmentioning

confidence: 77%

“…Except for other possible risk factors such as congenital malformations, G6PD deficiency, ABO incompatibility, and low birth weight, UGT1A1 gene mutations were found to be closely implicated (10)(11)(12). This study examined the association of UGT1A1 gene mutations and hyperbilirubinemia in two ethnic subpopulations of China.…”

Section: Discussionmentioning

confidence: 99%

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

Zhong

Xie

et al. 2015

Pediatr Res

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“…Only one 189C>T heterozygous mutation was detected in 181 cases of neonatal unconjugated hyperbilirubinemia (Skierka et al, 2013). 189C>T(Asp→Asp) and 1491C>T(Ala→Ala) are synonymous mutations that do not result in an amino acid change, while 1352C>T and 1459C>T are missense mutations that lead to an amino acid change (1352 C>T: Pro→Leu; 1459C>T: His→Tyr).…”

Section: Discussionmentioning

confidence: 99%

Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia

Sun

Cui

et al. 2016

Genet. Mol. Res.

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ABSTRACT. This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was followed by checking their correlation with the serum bilirubin level and the occurrence of unconjugated hyperbilirubinemia in neonates. Our results reveal that the UGT1A1 mutant genotype, 211G>A, is distributed differently in the case vs control groups, as well as in the Zhuang vs Han ethnic groups. Moreover, this difference is statistically significant (P < 0.05); the total serum bilirubin (TSB) and unconjugated bilirubin (UCB) levels in patients carrying the single homozygous mutation, 211G>A, were markedly higher than that in patients without the mutation (P < 0.05). Furthermore, the TSB and UCB levels were significantly different between patients carrying single or compound 211G>A heterozygous mutation, (TA)6/7, and 1941C>G/2042C>G heterozygous mutation, and patients without mutation (P > 0.05). Our findings suggest that the 211G>A mutation in the first exon may be a risk factor for unconjugated hyperbilirubinemia in Zhuang and Han neonates. The serum bilirubin levels seem to be affected by the homozygosity or heterozygosity of the UGT1A1 gene mutation; 211G>A homozygous mutation is an important factor that causes a rise in bilirubin in neonates with unconjugated hyperbilirubinemia.

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“…У дослідженні, проведеному [20], показано, що 146 педіатричних пацієнтів із 181 мали хоча б один гетерозиготний UGT1A1 функціональний варіант. Виявлені результати включали 17 нових варіантів UGT1A1, 7 рідкісних відомих і 1 рідкіс-ний новий варіант.…”

Section: ключові слова: синдром жильбера; гіпербілірубінемія; уридиндunclassified

Синдром Жильбера: Термінологія, Епідеміологія, Генетика, Патогенез (Частина I)

Sorokman¹,

Popeliuk²,

Макарова³

2021

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Мета огляду — аналіз даних літератури щодо поширеності, етіології, генетики, патогенезу синдрому Жильбера. Проведений огляд наукової літератури щодо синдрому Жильбера за ключовими словами «синдром Жильбера», «гіпербілірубінемія», «уридиндифосфатглюкуронілтрансфераза» з використанням як пошукової системи PubMed. Беручи до уваги дослідження, проведені в останні 10 років, проаналізовані тези 75 статей. Більш детально вивчено результати дослідження, висвітлені у 28 статтях.

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UGT1A1 Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia

Cited by 45 publications

References 33 publications

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia

Синдром Жильбера: Термінологія, Епідеміологія, Генетика, Патогенез (Частина I)

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