Journal Article Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population

Migita, Kiyoshi  ,  Jiuchi, Yuka  ,  Furukawa, Hiroshi  ,  Nakamura, Minoru  ,  Komori, Atsumasa  ,  Yasunami, Michio  ,  Kozuru, Hideko  ,  Abiru, Seigo  ,  Yamasaki, Kazumi  ,  Nagaoka, Shinya  ,  Hashimoto, Satoru  ,  Bekki, Shigemune  ,  Yoshizawa, Kaname  ,  Shimada, Masaaki  ,  Kouno, Hiroshi  ,  Kamitsukasa, Hiroshi  ,  Komatsu, Tatsuji  ,  Hijioka, Taizo  ,  Nakamuta, Makoto  ,  Naganuma, Atsushi  ,  Yamashita, Haruhiro  ,  Nishimura, Hideo  ,  Ohta, Hajime  ,  Nakamura, Yoko  ,  Ario, Keisuke  ,  Oohara, Yukio  ,  Sugi, Kazuhiro  ,  Tomizawa, Minoru  ,  Sato, Takeaki  ,  Takahashi, Hironao  ,  Muro, Toyokichi  ,  Makita, Fujio  ,  Mita, Eiji  ,  Sakai, Hironori  ,  Yatsuhashi, Hiroshi

BMC Research Notes
8p.777 , 2015-12-12 , BioMed Central
Description
Background: Previous genome-wide association studies have evaluated the impact of common genetic variants and identified several non-HLA risk loci associated with autoimmune liver diseases. More recent genome-wide association studies and replication analyses reported an association between variants of the CARD10 polymorphism rs6000782 and risk of type 1 autoimmune hepatitis (AIH). In this case-control study, we genotyped 326 Japanese AIH patients and 214 control subjects. Results: Genomic DNA from 540 individuals of Japanese origin, including 326 patients with type-1 AIH and 214 healthy controls, was analyzed for two single nucleotide polymorphisms (SNPs) in the CARD10 gene. We selected CARD10 rs6000782 SNPs and genotyped these using PCR-RFLP method and direct sequencing. The Chi square test revealed that the rs6000782 variant alle (c) was not associated with the susceptibility for AIH in a Japanese population [p = 0.376, odds ratio (OR) 1.271, 95 % confidence interval (CI) 0.747-2.161] in an allele model. Our data also showed that CARD10 rs6000782 variants were not associated with AIH or with the clinical parameters of AIH. Conclusions: In this study we examined an association between rs6000782 SNPs in the CARD10 gene and type-1 AIH. Results showed no significant association of rs62000782 with type-1 AIH in a Japanese population. This study demonstrated no association between CARD10 rs6000782 variants and AIH in a Japanese population.
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http://naosite.lb.nagasaki-u.ac.jp/dspace/bitstream/10069/36132/1/BMCRN8_777.pdf

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