Insulin-like growth factor I gene microsatellite repeat, collagen type I??1 gene Sp1 polymorphism, and bone disease in primary biliary cirrhosis

Bajnok, É; Tornai, István; Folhoffer, Anikó; Horváth, Andrea; Lakatos, Péter L.; Habior, Andrzej; Szalay, Ferenç

doi:10.1097/01.meg.0000108364.41221.d0

Cited by 22 publications

(14 citation statements)

References 37 publications

(61 reference statements)

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“…Microsatellites are used in genetic linkage analyses to locate genes or mutations responsible for a wide variety of diseases. Several reports have described an association between microsatellites and PBC susceptibility [23][24][25][26]. However, there are differences between the candidate genes indicated by microsatellite markers and those reported by SNP-based studies or by GWASs, which is likely attributable the intermarker distances among microsatellites that contain new or previously unidentified genes responsible for the pathogenesis of PBC.…”

Section: Microsatellites and Single Nucleotide Polymorphisms (Snps)mentioning

confidence: 95%

Genetics and epigenetics in the pathogenesis of primary biliary cholangitis

Joshita

Umemura

Tanaka

et al. 2017

Clin J Gastroenterol

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Primary biliary cholangitis (PBC) is a chronic, slowly progressive cholestatic autoimmune liver disease predominantly afflicting women. PBC is characterized by the presence of disease-specific antimitochondrial antibodies and the histological destruction of intrahepatic bile ducts, which eventually lead to cirrhosis and hepatic failure. Fortunately, ursodeoxycholic acid therapy has improved the outcome of the vast majority of PBC cases. Although the etiology of PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles have been consistently associated with disease onset for decades. PBC patients may also have genetically determined risk factors in non-HLA regions. Meanwhile, exposure to environmental factors, such as infectious diseases and harmful chemicals, can produce epigenetic alterations in some individuals and subsequent PBC onset. In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies on this disease and its future prospects in terms of epigenetics.

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Section: Microsatellites and Single Nucleotide Polymorphisms (Snps)mentioning

confidence: 95%

Genetics and epigenetics in the pathogenesis of primary biliary cholangitis

Joshita

Umemura

Tanaka

et al. 2017

Clin J Gastroenterol

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“…Among these, the distribution of specific alleles of CD40 ligand, 75 CD14, 76 endothelial nitric oxide synthase, 77 early T-lymphocyte activation 1/ osteopontin, 78 T-cell receptor C-beta2, 79 insulin-like growth factor 1, collagen-Ia1, 80 and toll-like receptor 9 81 did not differ between patients and controls. In some cases, however, a significant association with disease severity 77,79 or bone loss 80 seemed evident.…”

Section: Mhc and Pbcmentioning

confidence: 95%

Genes and (auto)immunity in primary biliary cirrhosis

et al. 2005

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Primary biliary cirrhosis (PBC) is a chronic autoimmune cholestatic liver disease most commonly encountered in postmenopausal women; it is characterized by high-titer serum autoantibodies to mitochondrial antigens, elevated serum IgM, progressive destruction of intrahepatic bile ducts, and ultimately liver cirrhosis and failure. The cytopathic mechanisms leading to the selective destruction of intrahepatic cholangiocytes are still largely unknown. The current theory on the pathogenesis of PBC indicated that environmental factors might trigger autoimmunity in genetically susceptible individuals. In fact, genetic predisposition is critical to disease onset and progression, yet peculiar among autoimmune diseases, as indicated by the lack of a strong association with major histocompatibility complex haplotypes. Further, the recently reported concordance rate among monozygotic twins strenghtens the importance of genetic factors, while also indicating that additional factors, possibly infectious agents or xenobiotics, intervene to trigger the disease. In this review, the available data regarding the genetic factors associated with PBC susceptibility and progression, as well as the available evidence regarding the immunomediated pathogenesis of PBC, will be critically illustrated and discussed.

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“…Lakatos et al, 2004 resides within that genomic region. And, preliminary evidence from SNP block haplotyping places the IGF-I gene itself as a top candidate for this QTL.…”

Section: Vaessen Et Al 2001mentioning

confidence: 98%