RGD Reference Report - Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans. - Rat Genome Database

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Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.

Authors: Zhang, Lyna  Yesupriya, Ajay  Hu, Dale J  Chang, Man-Huei  Dowling, Nicole F  Ned, Renée M  Udhayakumar, Venkatachalam  Lindegren, Mary Lou  Khudyakov, Yury 
Citation: Zhang L, etal., Hepatology. 2012 Apr;55(4):1008-18. doi: 10.1002/hep.25513.
RGD ID: 15014793
Pubmed: PMID:22135187   (View Abstract at PubMed)
DOI: DOI:10.1002/hep.25513   (Journal Full-text)


UNLABELLED: Hepatitis A vaccination has dramatically reduced the incidence of hepatitis A virus (HAV) infection, but new infections continue to occur. To identify human genetic variants conferring a risk for HAV infection among the three major racial/ethnic populations in the United States, we assessed associations between 67 genetic variants (single nucleotide polymorphisms [SNPs]) among 31 candidate genes and serologic evidence of prior HAV infection using a population-based, cross-sectional study of 6,779 participants, including 2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, and 2,065 Mexican Americans enrolled in phase 2 (1991-1994) of the Third National Health and Nutrition Examination Survey. Among the three racial/ethnic groups, the number (weighted frequency) of seropositivity for antibody to HAV was 958 (24.9%), 802 (39.2%), and 1540 (71.5%), respectively. No significant associations with any of the 67 SNPs were observed among non-Hispanic whites or non-Hispanic blacks. In contrast, among Mexican Americans, variants in two genes were found to be associated with an increased risk of HAV infection: TGFB1 rs1800469 (adjusted odds ratio [OR], 1.38; 95% confidence interval [CI], 1.14-1.68; P value adjusted for false discovery rate [FDR-P] = 0.017) and XRCC1 rs1799782 (OR, 1.57; 95% CI, 1.27-1.94; FDR-P = 0.0007). A decreased risk was found with ABCB1 rs1045642 (OR, 0.79; 95% CI, 0.71-0.89; FDR-P = 0.0007).
CONCLUSION: Genetic variants in ABCB1, TGFB1, and XRCC1 appear to be associated with susceptibility to HAV infection among Mexican Americans. Replication studies involving larger population samples are warranted.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
XRCC1Humanhepatitis A susceptibilityIAGP DNA:missense mutation:cds:p.R194W (rs1799782) (human)RGD 
Xrcc1Rathepatitis A susceptibilityISOXRCC1 (Homo sapiens)DNA:missense mutation:cds:p.R194W (rs1799782) (human)RGD 
Xrcc1Mousehepatitis A susceptibilityISOXRCC1 (Homo sapiens)DNA:missense mutation:cds:p.R194W (rs1799782) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
XRCC1HumanReduced circulating C-reactive protein concecntration susceptibilityIAGP DNA:missense mutation:cds:p.R194W (rs1799782) (human)RGD 
XRCC1HumanViral hepatitis susceptibilityIAGP DNA:missense mutation:cds:p.R194W (rs1799782) (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Xrcc1  (X-ray repair cross complementing 1)

Genes (Mus musculus)
Xrcc1  (X-ray repair complementing defective repair in Chinese hamster cells 1)

Genes (Homo sapiens)
XRCC1  (X-ray repair cross complementing 1)


Additional Information