Variant "UGT1A1:c.211G>A(p.Gly71Arg)"
Search result: 1 record
Variant information
Gene:
UGT1A1 
Variant:
UGT1A1:c.211G>A(p.Gly71Arg) 
Genomic location:
chr2:234669144(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000463.2:c.211G>A(p.Gly71Arg)
protein_coding NM_019076.4:c.856-6536G>A
protein_coding NM_019075.2:c.856-6536G>A
protein_coding NM_021027.2:c.856-6536G>A
protein_coding NM_019077.2:c.856-6536G>A
protein_coding NM_001072.3:c.862-6536G>A
protein_coding NM_019078.1:c.868-6536G>A
protein_coding NM_007120.2:c.868-6536G>A
protein_coding NM_019093.2:c.868-6536G>A
protein_coding NM_205862.1:c.61-6536G>A
show all
dbSNP ID:
rs4148323  
GWAS trait:
bilirubin measurement 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Neonatal Hyperbilirubinemia (HP:0003265)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    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 
    Effect:
    A allele of rs4148323 (UGTA*6) were correlated with an increased risk of hyperbilirubinemia
    Reference:
    PMID26146841
    Title:
    Multiple Genetic Modifiers of Bilirubin Metabolism Involvement in Significant Neonatal Hyperbilirubinemia in Patients of Chinese Descent.
    Species studied:
    Human
    Abstract:
    The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. A case-control study was designed to assess comprehensive contributions of the multiple genetic modifiers of bilirubin metabolism on significant neonatal hyperbilirubinemia in Chinese descendents. Eleven common mutations and polymorphisms across five bilirubin metabolism genes, namely those encoding UGT1A1, HMOX1, BLVRA, SLCO1B1 and SLCO1B3, were determined using the high resolution melt (HRM) assay or PCR-capillary electrophoresis analysis. A total of 129 hyperbilirubinemic infants and 108 control subjects were evaluated. 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). In addition, the SLCO1B1 and SLCO1B3 polymorphisms also contributed to an increased risk of hyperbilirubinemia. This detailed analysis revealed the impact of multiple genetic modifiers on neonatal hyperbilirubinemia. This may support the use of genetic tests for clinical risk assessment. Furthermore, the established HRM assay can serve as an effective method for large-scale investigation.