Neonatal hyperbilirubinemia and G71R mutation of the<i>UGT1A1</i>gene in Turkish patients

Narter, Fatma; Can, Gülay; Ergen, Arzu; İsbır, Turgay; İnce, Zeynep; Çoban, Asuman

doi:10.3109/14767058.2010.490889

Cited by 12 publications

(18 citation statements)

References 20 publications

(35 reference statements)

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“…However, different findings have been reported in Caucasians and Africans (6). Studies in Turkey (19) and the United States (20) found no significant association between 211G>A and neonatal hyperbilirubinemia. In addition, the risk for neonatal hyperbilirubinemia in individuals carrying homozygous 211G>A was higher than in their heterozygous counterparts in this study.…”

Section: Articlesmentioning

confidence: 86%

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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Section: Articlesmentioning

confidence: 86%

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

Zhong

Xie

et al. 2015

Pediatr Res

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“…This mutation neither influenced the severity of hyperbilirubinemia nor the requirement of phototherapy. The mutant allele frequency did not differ significantly between the two groups and was significantly lower than in the Turkish patients [1] (10.4% vs. 24.3%). Unlike in their cohort, none of our patients were homozygous for the mutant allele and this could be due to the lower frequency of this allele (7.7%) in healthy Indian populations (unpublished data).…”

Section: To the Editormentioning

confidence: 87%

“…We read with interest the report entitled "Neonatal hyperbilirubinemia and G71R mutation of the UGT1A1 gene in Turkish patients" by Narter et al [1]. We have also been studying the genetic risk factors of neonatal hyperbilirubinemia in western India.…”

Section: To the Editormentioning

confidence: 95%

“…One of our interest was to look for the G71R mutation and its association with neonatal hyperbilirubinemia. As against the 39 infants with hyperbilirubinemia studied by Narter et al [1], we enrolled 126 neonates (≥35 weeks of gestation) who developed peak serum total bilirubin (STB) levels of >15 mg/dl in the first 5 days of life as hyperbilirubinemia cases. Along with this, 180 babies who did not develop clinical jaundice or had peak STB of <15 mg/dl and had not received phototherapy or exchange transfusion were enrolled as controls.…”

Section: To the Editormentioning

confidence: 99%

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G71R mutation of the UGT1A1 gene is not associated with neonatal hyperbilirubinemia in India

D’Silva

Colah

Ghosh

et al. 2012

The Journal of Maternal-Fetal & Neonatal Medicine

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“…By comparing Zhuang and Han patients in the case group or control group, we found that Han patients have a significantly higher frequency of the mutation and A allele, than Zhuang patients do. The finding that A allele frequency in the case group is strikingly higher than that in the control group (regardless of ethnicity) indicates that the UGT1A1 211G>A mutation is associated with the occurrence (Sappal et al, 2002;Kanai et al, 2005;Narter et al, 2011;, whereas studies in most parts of Europe and America showed no correlation of the 211G>A mutation with the occurrence of neonatal unconjugated hyperbilirubinemia in the region (Akaba et al, 1998;Ferraris et al, 2006). (TA)7 insertion mutation refers to insert one more TA sequence based on (TA) 6 so as to transform normal A(TA)6/6TAA mutation into A(TA)6/7TAA hybrid subtype and A(TA)7/7TAA homozygotic type (Fernández Salazar et al, 2000).…”

Section: Discussionmentioning

confidence: 86%

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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Neonatal hyperbilirubinemia and G71R mutation of theUGT1A1gene in Turkish patients

Abstract: Our results suggest that G71R mutation of UGT1A1 is not rare; however, an association between G71R mutation and hyperbilirubinemia of unexplained cause has not been shown in Turkish newborns.

Cited by 12 publications

References 20 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

G71R mutation of the UGT1A1 gene is not associated with neonatal hyperbilirubinemia in India

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

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