rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Concurrence of mutations of Gly71Arg and TATAA-box usually exerts a synergistic effect on hyperbilirubinemia.
|
11316168 |
2001 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results indicate that homozygosity and compound heterozygosity for mutations in the UGT1A1 gene promoter (T-3263G and A[TA](7)TAA) and/or exon 1 of the gene (G211A) could explain the hyperbilirubinemia seen in the majority of individuals with Gilbert's syndrome.
|
11906189 |
2002 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The percentages with bilirubin >or=342 micro M (20.0 mg/dL) and with persistent hyperbilirubinemia in the subjects carrying homozygous variation at nucleotide 211 (Gly71Arg) were significantly higher than the neonates carrying wild type or other genotypes.
|
12357057 |
2002 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate the association between the UGT1A1*6 (G71R) and UGT1A1*28 (promoter (TA)7-repeat) genotypes and hyperbilirubinaemia in Thai patients treated with indinavir, and characterize the inhibition of human UGTs by indinavir in vitro.
|
16609363 |
2006 |
rs774010631
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To investigate the association between the UGT1A1*6 (G71R) and UGT1A1*28 (promoter (TA)7-repeat) genotypes and hyperbilirubinaemia in Thai patients treated with indinavir, and characterize the inhibition of human UGTs by indinavir in vitro.
|
16609363 |
2006 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
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.
|
20528217 |
2011 |
rs8175347
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Variation of a short (TA)(n) repeat sequence (rs8175347) covering the TATA box of UGT1A1 (UDP-glucuronosyltransferase1A1) is associated with hyperbilirubinaemia (Gilbert's syndrome) and adverse drug reactions, and is used for dosage advice for irinotecan.
|
21309756 |
2011 |
rs8175347
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Variations in the promoter region of the UGT1A1 gene (UGT1A1*28, rs8175347) can influence bilirubin plasma levels, modulating the susceptibility to hyperbilirubinemia.
|
22050734 |
2012 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, significant association of G71R mutation with hyperbilirubinemia in breast-fed neonates was reported.
|
23014115 |
2013 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005).
|
25102181 |
2014 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005).
|
25102181 |
2014 |
rs6717546
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005).
|
25102181 |
2014 |
rs887829
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005).
|
25102181 |
2014 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We previously reported that maximal body weight loss (inadequate feeding) is an independent risk factor for the development of hyperbilirubinemia in breast-fed Japanese neonates, and the UGT1A1 211G>A genotype becomes a risk factor under conditions of inadequate feeding.
|
25391605 |
2015 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Breastfeeding and the presence of the minor A allele of rs4148323 (UGTA*6) were correlated with an increased risk of hyperbilirubinemia (OR=2.17, P=0.02 for breastfeeding; OR=9.776, P=0.000 for UGTA*6 homozygote; OR=3.151, P=0.000 for UGTA*6 heterozygote); whereas, increasing gestational age and the presence of -TA7 repeat variant of UGT1A1 decreased the risk (OR=0.721, P=0.003 for gestational age; OR=0.313, P=0.002 for heterozygote TA6/TA7).
|
26146841 |
2015 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The data from the current study demonstrate that the three-dimensional polyacrylamide gel microarray method has the potential to be applied as a useful, reliable and cost-effective tool to detect the T-3279G, the A(TA)6/7TAA and the G211A mutations of the UGT1A1 gene in patients with hyperbilirubinemia and thereby aid in the diagnosis of Gilbert's syndrome.
|
26781906 |
2016 |
rs368362776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The data from the current study demonstrate that the three-dimensional polyacrylamide gel microarray method has the potential to be applied as a useful, reliable and cost-effective tool to detect the T-3279G, the A(TA)6/7TAA and the G211A mutations of the UGT1A1 gene in patients with hyperbilirubinemia and thereby aid in the diagnosis of Gilbert's syndrome.
|
26781906 |
2016 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results suggested that Gly71Arg and Asn130Asp mutations in UGT1A1 and OATP2 genes might be involved in the development of hyperbilirubinemia in neonates.
|
26960716 |
2016 |
rs774010631
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results suggested that Gly71Arg and Asn130Asp mutations in UGT1A1 and OATP2 genes might be involved in the development of hyperbilirubinemia in neonates.
|
26960716 |
2016 |
rs764682757
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results suggested that Gly71Arg and Asn130Asp mutations in UGT1A1 and OATP2 genes might be involved in the development of hyperbilirubinemia in neonates.
|
26960716 |
2016 |
rs8175347
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The UGT1A1 (rs8175347) polymorphism was associated with hyperbilirubinemia and treatment interruption.
|
27533851 |
2016 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
UGT1A1 gene promoter polymorphism and G71R mutation are possible risk factors for Turkish neonates with DC(-) ABO incompatibility and unexplained hyperbilirubinemia.
|
27842454 |
2017 |
rs8175347
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We studied the prevalence of the genotypes (TA)<sub>6/6</sub> (TA)<sub>6/7</sub> and (TA)<sub>7/7</sub> of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients.
|
27866642 |
2019 |
rs4148323
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Individuals with Gly71Arg homozygous contributed to their hyperbilirubinemia in ABO HDN patients.
|
31087315 |
2019 |