Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
Open accessAbstract
A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 x 10(-10), OR = 1.63) and 17q12-21 (P = 1.7 x 10(-10), OR = 1.38).
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The presence of genetic susceptibility is supported by the increased concordance rate in monozygotic twins and confirmed by the identification of significant numbers of associated genetic loci in GWAS and other large-scale genetic approaches.
“The presence of genetic susceptibility is supported by the increased concordance rate in monozygotic twins44 and confirmed by the identification of significant numbers of associated genetic loci in Genome Wide Association Studies (GWAS) and other large-scale, high-quality genetic approaches.45–54”
From The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines (2018) · cites this paper as [48]
Another regulatory archaic variant, rs12531711, modifies the expression of TNPO3 in brain and is associated with multiple auto-immune phenotypes.
“Another regulatory archaic variant, rs12531711 (hg19, chr7:128617466), modifies the expression of TNPO3 in brain and is associated with multiple auto-immune phenotypes [26–35]”
From Functional implications of Neandertal introgression in modern humans (2017) · cites this paper as [31]
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- Authors
- Liu, X., Invernizzi, P., Lu, Y., Kosoy, R., Lu, Y., Bianchi, I., Podda, M., Xu, C., Xie, G., Macciardi, F., Selmi, C., Lupoli, S., Shigeta, R., Ransom, M., Lleo, A., Lee, A. T., Mason, A. L., Myers, R. P., Peltekian, K. M., Ghent, C. N., Bernuzzi, F., Zuin, M., Rosina, F., Borghesio, E., Floreani, A., Lazzari, R., Niro, G., Andriulli, A., Muratori, L., Muratori, P., Almasio, P. L., Andreone, P., Margotti, M., Brunetto, M., Coco, B., Alvaro, D., Bragazzi, M. C., Marra, F., Pisano, A., Rigamonti, C., Colombo, M., Marzioni, M., Benedetti, A., Fabris, L., Strazzabosco, M., Portincasa, P., Palmieri, V. O., Tiribelli, C., Croce, L., Bruno, S., Rossi, S., Vinci, M., Prisco, C., Mattalia, A., Toniutto, P., Picciotto, A., Galli, A., Ferrari, C., Colombo, S., Casella, G., Morini, L., Caporaso, N., Colli, A., Spinzi, G., Montanari, R., Gregersen, P. K., Heathcote, E. J., Hirschfield, G. M., Siminovitch, K. A., Amos, C. I., Gershwin, M. E., & Seldin, M. F.
- Affiliations
- University Health Network (CA)
- IRCCS Humanitas Research Hospital (IT)
- University of California, Davis (US)
- University of Milan (IT)
- IRCCS Ospedale San Raffaele (IT)
- Northwell Health (US)
- University of Alberta (CA)
- University of Calgary (CA)
- Dalhousie University (CA)
- London Health Sciences Centre (CA)
- Ospedale Humanitas Gradenigo (IT)
- University of Padua (IT)
- Casa Sollievo della Sofferenza (IT)
- University of Bologna (IT)
- University of Palermo (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
- Sapienza University of Rome (IT)
- University of Florence (IT)
- Marche Polytechnic University (IT)
- Yale University (US)
- University of Bari Aldo Moro (IT)
- University of Trieste (IT)
- Azienda Ospedaliera Fatebenefratelli e Oftalmico (IT)
- Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda (IT)
- Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo (IT)
- University of Udine (IT)
- University of Genoa (IT)
- Ospedale di Parma (IT)
- Azienda Ospedaliera di Desio e Vimercate (IT)
- University of Naples Federico II (IT)
- Alessandro Manzoni Hospital (IT)
- Ospedale Valduce (IT)
- Mount Sinai Hospital (CA)
- The University of Texas MD Anderson Cancer Center (US)
- Corresponding author
- Seldin, Michael F
- ORCID
- Liu, Xiangdong
- Invernizzi, Pietro
- Lu, Yue
- Kosoy, Roman
- Podda, Mauro
- Xu, Chun
- Macciardi, Fabio
- Selmi, Carlo
- Mason, Andrew L
- Peltekian, Kevork M
- Bernuzzi, Francesca
- Zuin, Massimo
- Floreani, Annarosa
- Niro, Grazia
- Andriulli, Angelo
- Muratori, Luigi
- Muratori, Paolo
- Almasio, Piero L
- Brunetto, Maurizia
- Coco, Barbara
- Alvaro, Domenico
- Bragazzi, Maria C
- Marra, Fabio
- Rigamonti, Cristina
- Colombo, Massimo
- Marzioni, Marco
- Benedetti, Antonio
- Fabris, Luca
- Strazzabosco, Mario
- Portincasa, Piero
- Palmieri, Vincenzo O
- Tiribelli, Claudio
- Bruno, Savino
- Toniutto, Pierluigi
- Galli, Andrea
- Ferrari, Carlo
- Casella, Giovanni
- Caporaso, Nicola
- Colli, Agostino
- Spinzi, Giancarlo
- Gregersen, Peter K
- Hirschfield, Gideon M
- Amos, Christopher I
- Gershwin, M Eric
- Venue
- Nature Genetics
- Published
- 2010-07-18
- Volume
- 42
- Issue
- 8
- Pages
- 658-660
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3150510
- OpenAlex
- W2087236782
- Cited by
- 398
- References
- 15
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- FWCI
- 31.29
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- journal article
- Language
- en
- Open access
- bronze
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- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Funders
- American Gastroenterological Association
- National Institutes of Health
- Canadian Institutes of Health Research (MOP74621)
- National Institute of Diabetes and Digestive and Kidney Diseases (R03DK078527, R01DK080670, R01 DK 80670, R03 DK78527, R01DK056839, K23 DK68290, K23DK068290, R01DK091823)
- Topics
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Inflammatory Bowel Disease
- Keywords
- primary biliary cirrhosis, autoimmune liver disease, genetic susceptibility loci, IL12A, Spi-B, risk alleles
- MeSH terms
- Alleles, Canada, Humans, Liver Cirrhosis, Biliary, Meta-Analysis as Topic, Odds Ratio, Genome, White People, Interferon Regulatory Factors, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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