TY - JOUR
T1 - Genetics and Genomics of Primary Biliary Cirrhosis
AU - Juran, Brian D.
AU - Lazaridis, Konstantinos N.
N1 - Funding Information:
This work was supported by grants from the National Institutes of Health (K23 DK68290 and RO3 DK78527), American Gastroenterological Association, American Liver Foundation, Miles and Shirley Fiterman Foundation, and Palumbo Foundation.
PY - 2008/5
Y1 - 2008/5
N2 - The etiologic and pathogenic factors contributing to primary biliary cirrhosis (PBC) development, progression, response to treatment, and outcome remain a mystery. Recognition of the genomic regions harboring risk factors is hindered by the rarity and late onset of PBC. Recent advancements in genomics hold promise for understanding, prevention, and therapy of PBC. Large registries and biospecimen repositories of patients who have PBC, their family members, and controls are needed. Haplotype mapping-based association studies are necessary for defining genetic predisposition. Experimental data will provide the means for fine mapping studies, resequencing efforts, functional experimentation, and elucidation of gene-environment and gene-gene interaction.
AB - The etiologic and pathogenic factors contributing to primary biliary cirrhosis (PBC) development, progression, response to treatment, and outcome remain a mystery. Recognition of the genomic regions harboring risk factors is hindered by the rarity and late onset of PBC. Recent advancements in genomics hold promise for understanding, prevention, and therapy of PBC. Large registries and biospecimen repositories of patients who have PBC, their family members, and controls are needed. Haplotype mapping-based association studies are necessary for defining genetic predisposition. Experimental data will provide the means for fine mapping studies, resequencing efforts, functional experimentation, and elucidation of gene-environment and gene-gene interaction.
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U2 - 10.1016/j.cld.2008.02.007
DO - 10.1016/j.cld.2008.02.007
M3 - Review article
C2 - 18456185
AN - SCOPUS:43049086317
SN - 1089-3261
VL - 12
SP - 349
EP - 365
JO - Clinics in liver disease
JF - Clinics in liver disease
IS - 2
ER -