Genetic polymorphisms in Thai neonates with hyperbilirubinemia

Prachukthum, Sariya; Nunnarumit, Pracha; Pienvichit, Pavit; Chuansumrit, Ampaiwan; Songdej, Daunthida; Kajanachumpol, Saowanee; Pakakasama, Samart; Hongeng, Suradej

doi:10.1111/j.1651-2227.2009.01275.x

Cited by 26 publications

(32 citation statements)

References 24 publications

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“…Our study did not show differences in G6PD deficiency between the groups, although Prachukthum et al (13) and Wong et al (14) reported that G6PD deficiency was higher among the patient infants than in the control group. Although the frequency of G6PD deficiency in the study group was almost twice that of the controls (7.4 vs. 3.7%), it did not reach statistical difference, probably due to the small sample size.…”

Section: Discussioncontrasting

confidence: 51%

“…In a Brazilian study of lopinavir and ritonavir in HIV-infected men, similar frequencies of rs2306283 (20) reported that the variant allele of rs2306283 was more frequent among hyperbilirubinemic infants (Odds ratio, OR = 2.01), although these results were not confirmed (3,13,14). Zhang et al (21), however, showed that infants with the A allele of rs2306283 had higher bilirubin levels when compared with homozygous GG infants.…”

Section: Discussioncontrasting

confidence: 39%

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UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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Background: Jaundice is a physiological phenomenon; however, severe hyperbilirubinemia occurs in only 5 to 6% of the healthy newborn population. It has been suggested that genetic variation could enhance the risk of hyperbilirubinemia when coexpressed with other icterogenic conditions. Methods: The study included newborns with a gestational age of greater than 35 wk and weights greater than 2,000 g with indications for phototherapy. The polymorphisms from UGT1A1 (rs8175347), sLcO1B1 (rs4149056 and rs2306283), and sLcO1B3 (rs17680137 and rs2117032) were analyzed by capillary electrophoresis and hydrolysis probes. results: A total of 167 hyperbilirubinemic infants and 247 control subjects were enrolled. The gender, ABO incompatibility, birth weight, and gestational age differed between the groups, but the allelic and genotypic frequency of the polymorphisms from SLCO1B genes did not. In logistic regression, the ABO incompatibility, gestational age, and polymorphic T allele of rs2117032 remained in the model. The presence of this polymorphism seemed to provide protection from hyperbilirubinemia. The individuals who were homozygous for the G allele of rs2306283 and who were glucose 6-phosphatedehydrogenase deficient were more frequent among the cases. conclusion: Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.

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Section: Discussioncontrasting

confidence: 51%

Section: Discussioncontrasting

confidence: 39%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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“…This is in disagreement with Prachukthum et al 15 who found that GSTM1 null genotype frequencies in cases and control groups were 70.3% and 57.5%, respectively, with no statistically significant difference ( P = 0.08). GSTT1 null genotype frequencies in cases and control groups were 29.7% and 30%, respectively, with no significant difference ( P = 0.96).…”

Section: Discussioncontrasting

confidence: 80%

Glutathione S-Transferase Gene Polymorphisms in Neonatal Hyperbilirubinemia

Ghany

Hussain

Botros

2012

Journal of Investigative Medicine

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“…G6PD deficiency is associated with neonatal hyperbilirubinemia and jaundice, commonly found in Mediterranean and Asian populations . In Thailand, it has been reported that up to 21.2% of neonatal hyperbilirubinemia are G6PD deficiency . Delayed phototherapy in jaundice, newborns due to unaware of G6PD deficiency can cause extreme hyperbilirubinemia, bilirubin neurotoxicity and kernicterus .…”

Section: Introductionmentioning

confidence: 99%

Evaluating the performance of automated UV enzymatic assay for screening of glucose 6‐phosphate dehydrogenase deficiency

Anantasomboon

Chanda

Jugnam-Ang

et al. 2018

Int J Lab Hematology

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Introduction A precise and reliable screening assay for glucose 6‐phosphate dehydrogenase (G6PD) deficiency would greatly help avoiding unwanted outcomes due to bilirubin neurotoxicity in neonatal jaundice and antimalarial‐induced haemolytic anaemia in malaria patients. Currently, available assays are laborious and require sophisticated laboratory expertise. This study aimed to evaluate the performance of a recently introduced automated screening assay for G6PD deficiency by comparing with a routine spectrophotometric assay. Methods An automated UV‐based enzymatic (Mindray, PRC) and spectrophotometric assays were performed simultaneously in parallel to determine G6PD activity in 251 blood samples from the subjects. Results The median G6PD activity value from spectrophotometric assay was significantly lower than that of from the automated assay. The mean difference was −2.0 U/g haemoglobin (−7.3 to 3.2; P < 0.0001). The mean activity values of both assays were strongly correlated with Pearson's correlation coefficient of r = 0.8. Cohen's kappa statistics between assays was 0.77 (0.70‐0.83). The sensitivity, specificity, positive and negative predictive values of the automated assay were 85.7%, 99.2%, 85.7%, 99.2%, respectively. The sensitivity and positive predictive values of the automated assay for identifying intermediate G6PD activity levels were 40.0% and 25.0%, respectively. Genotyping was performed to confirm G6PD deficient and intermediate samples. The turnaround time for 40 samples was 60 minutes for the automated assay and 300 minutes for spectrophotometric assay. Conclusion The automated assay for the detection of G6PD deficiency is comparable to a routine spectrophotometric assay and help reducing sample handling time. However, the assay shows limitation in identifying individuals with G6PD intermediate.

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Genetic polymorphisms in Thai neonates with hyperbilirubinemia

Abstract: Thai infants with variant in the UGT1A1 at nt 211 or with G-6-PD deficiency are at higher risk for developing neonatal hyperbilirubinemia.

Cited by 26 publications

References 24 publications

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

Glutathione S-Transferase Gene Polymorphisms in Neonatal Hyperbilirubinemia

Evaluating the performance of automated UV enzymatic assay for screening of glucose 6‐phosphate dehydrogenase deficiency

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