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Familial Clustering and Genetic Background of Primary Biliary Cirrhosis in Japan

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Abstract

Background

Primary biliary cirrhosis (PBC) is regarded as an autoimmune liver disease and familial clustering of PBC could represent some genetic predisposition to the disease.

Aims

To elucidate the genetic background of PBC by investigating familial cases of PBC.

Methods

Familial cases were picked out from 171 PBC patients who enrolled in this study. We analyzed them and their family members, and compared them clinically and immunogenetically to non-familial cases.

Results

Out of 171 PBC patients, ten (5.8%) were identified as familial PBC in five families. The clinical features of familial PBC were almost comparable to those of non-familial PBC. The distribution of human leukocyte antigens (HLA)-A, -B and -DR in familial PBC showed no specificity. Two new PBC patients were identified in one family in addition to the two originally enrolled PBC patients, resulting in four patients with PBC within the same family. The two new PBC patients had an identical HLA haplotype. On the other hand, one HLA-identical sister of a PBC patient in another family did not develop PBC.

Conclusions

Primary biliary cirrhosis can exhibit familial clustering without any HLA predisposition, however, a survey of families for PBC could be useful for identifying new patients with PBC in the asymptomatic stage for earlier diagnosis and treatment.

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Authors and Affiliations

  1. Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan

    Masatoshi Yanagisawa, Hitoshi Takagi, Hitomi Takahashi, Toshiyuki Otsuka, Kazuhisa Yuasa, Kenichi Hosonuma & Masatomo Mori

  2. Uehara Clinic, Takasaki, Gunma, Japan

    Masahiro Uehara

  3. Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma, 371-8511, Japan

    Hitoshi Takagi

  4. 19-B-203 Eda-machi, Maebashi, Gunma, 371-0836, Japan

    Masatoshi Yanagisawa

  5. 41-4 Tsurugaya-machi, Maebashi, Gunma, 379-2108, Japan

    Hitoshi Takagi

  6. 729-3 Fukushima-machi, Takasaki, Gunma, 370-3523, Japan

    Hitomi Takahashi

  7. 354 Takaseki-machi, Takasaki, Gunma, 370-0043, Japan

    Masahiro Uehara

  8. 2-56-6 Hirose-machi, Maebashi, Gunma, 371-0812, Japan

    Toshiyuki Otsuka

  9. 2-5-11 Shimokoide-machi, Maebashi, Gunma, 371-0031, Japan

    Kazuhisa Yuasa

  10. 539-1-3-3108 Arai-machi, Ota, Gunma, 373-0852, Japan

    Kenichi Hosonuma

  11. 3-49-10 Kamikoide-machi, Maebashi, Gunma, 371-0037, Japan

    Masatomo Mori

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  1. Masatoshi Yanagisawa
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Correspondence to Hitoshi Takagi.

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Yanagisawa, M., Takagi, H., Takahashi, H. et al. Familial Clustering and Genetic Background of Primary Biliary Cirrhosis in Japan. Dig Dis Sci 55, 2651–2658 (2010). https://doi.org/10.1007/s10620-009-1057-0

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  • DOI: https://doi.org/10.1007/s10620-009-1057-0

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