RGD Reference Report - Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. - Rat Genome Database

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Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis.

Authors: Tankanitlert, J  Morales, NP  Fucharoen, P  Fucharoen, S  Chantharaksri, U 
Citation: Tankanitlert J, etal., Eur J Haematol. 2008 Apr;80(4):351-5. Epub 2007 Dec 10.
RGD ID: 10768828
Pubmed: PMID:18081723   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1600-0609.2007.01010.x   (Journal Full-text)

BACKGROUND AND OBJECTIVES: Cholelithiasis has been observed with high incidence in beta-thalassemia/hemoglobin E (beta-thal/Hb E). Recent studies have shown that a variant TATA-box in the promoter region of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene is associated with the development of cholelithiasis. The coding region mutation (G71R) of the UGT1A1 gene was higher in Asians than those in Caucasians. The relationship between the variant UGT1A1 promoter and coding region gene and cholelithiasis in beta-thal/Hb E subjects were investigated. METHODS: One hundred and seventeen beta-thal/Hb E subjects entered this study. The TATA-box and G71R mutations were analyzed by fragment size analysis and restriction fragment length polymorphism methods, respectively. RESULTS: The incidence of cholelithiasis was higher in heterozygous (68.3%) and homozygous (100%) subjects compared with normal UGT1A1 haplotype (61.4%). Total bilirubin level (6.0 +/- 2.03 mg/dL) in the homozygous group was significantly higher than that of wild type (3.31 +/- 1.83 ng/dL). Prevalence of cholelithiasis increased with age (OR = 1.1, 95% CI = 1.03-1.12, P < 0.001). Female gender (OR = 3.7, 95% CI = 1.3-10.6, P < 0.01) and elevated liver enzyme (OR = 1.02, 95%CI = 1.0-1.04, P < 0.02) were two other risk factors for cholelithiasis in beta-thal/Hb E. CONCLUSION: This study shows that the combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in beta-thal/Hb E.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cholelithiasis susceptibilityIAGP 10768828associated with Beta-Thalassemia more ...RGD 
cholelithiasis susceptibilityISOUGT1A1 (Homo sapiens)10768828; 10768828associated with Beta-Thalassemia more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Increased total bilirubin  IAGP 10768828associated with Beta-Thalassemia more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ugt1a1  (UDP glucuronosyltransferase family 1 member A1)

Genes (Mus musculus)
Ugt1a1  (UDP glucuronosyltransferase 1 family, polypeptide A1)

Genes (Homo sapiens)
UGT1A1  (UDP glucuronosyltransferase family 1 member A1)


Additional Information