PMID- 26676814
OWN - NLM
STAT- MEDLINE
DCOM- 20160919
LR  - 20181113
IS  - 1098-8971 (Electronic)
IS  - 0272-8087 (Print)
IS  - 0272-8087 (Linking)
VI  - 35
IP  - 4
DP  - 2015 Nov
TI  - Genome-Wide Association Studies in Primary Biliary Cirrhosis.
PG  - 392-401
LID - 10.1055/s-0035-1567831 [doi]
AB  - Genome-wide association studies (GWASs) have been a significant technological 
      advance in our ability to evaluate the genetic architecture of complex diseases 
      such as primary biliary cirrhosis (PBC). To date, six large-scale studies have 
      been performed that have identified 27 risk loci in addition to human leukocyte 
      antigen (HLA) associated with PBC. The identified risk variants emphasize 
      important disease concepts; namely, that disturbances in immunoregulatory 
      pathways are important in the pathogenesis of PBC and that such perturbations are 
      shared among a diverse number of autoimmune diseases-suggesting the risk 
      architecture may confer a generalized propensity to autoimmunity not necessarily 
      specific to PBC. Furthermore, the impact of non-HLA risk variants, particularly 
      in genes involved with interleukin-12 signaling, and ethnic variation in 
      conferring susceptibility to PBC have been highlighted. Although GWASs have been 
      a critical stepping stone in understanding common genetic variation contributing 
      to PBC, limitations pertaining to power, sample availability, and strong linkage 
      disequilibrium across genes have left us with an incomplete understanding of the 
      genetic underpinnings of disease pathogenesis. Future efforts to gain insight 
      into this missing heritability, the genetic variation that contributes to 
      important disease outcomes, and the functional consequences of associated 
      variants will be critical if practical clinical translation is to be realized.
CI  - Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
FAU - Gulamhusein, Aliya F
AU  - Gulamhusein AF
AD  - Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, 
      Rochester, Minnesota.
FAU - Juran, Brian D
AU  - Juran BD
AD  - Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, 
      Rochester, Minnesota.
FAU - Lazaridis, Konstantinos N
AU  - Lazaridis KN
AD  - Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, 
      Rochester, Minnesota.
LA  - eng
GR  - R01 DK080670/DK/NIDDK NIH HHS/United States
GR  - R01DK80670/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20151216
PL  - United States
TA  - Semin Liver Dis
JT  - Seminars in liver disease
JID - 8110297
RN  - 0 (HLA Antigens)
RN  - 0 (Receptors, Interleukin-12)
RN  - 0 (TNF protein, human)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - 187348-17-0 (Interleukin-12)
SB  - IM
MH  - Autoimmunity/genetics/immunology
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - HLA Antigens/*genetics/immunology
MH  - Humans
MH  - Interleukin-12/*genetics/immunology
MH  - Liver Cirrhosis, Biliary/*genetics/immunology
MH  - Receptors, Interleukin-12/*genetics
MH  - Signal Transduction/genetics/immunology
MH  - Tumor Necrosis Factor-alpha/immunology
PMC - PMC4683605
MID - NIHMS707266
EDAT- 2015/12/18 06:00
MHDA- 2016/09/20 06:00
PMCR- 2015/12/18
CRDT- 2015/12/18 06:00
PHST- 2015/12/18 06:00 [entrez]
PHST- 2015/12/18 06:00 [pubmed]
PHST- 2016/09/20 06:00 [medline]
PHST- 2015/12/18 00:00 [pmc-release]
AID - 10.1055/s-0035-1567831 [doi]
PST - ppublish
SO  - Semin Liver Dis. 2015 Nov;35(4):392-401. doi: 10.1055/s-0035-1567831. Epub 2015 
      Dec 16.