日本人群中CARD10 rs6000782基因多态性与1型自身免疫性肝炎之间无关联。
Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population.
作者信息
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
机构信息
NHO-AIH study group, Nagasaki Medical Center, Kubara 2-1001-1, Omura, Nagasaki, 856-8562, Japan.
Clinical Research Center, NHO Nagasaki Medical Center, Kubara 2-1001-1, Omura, 856-8652, Japan.
出版信息
BMC Res Notes. 2015 Dec 12;8:777. doi: 10.1186/s13104-015-1733-4.
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.
背景
既往全基因组关联研究评估了常见基因变异的影响，并确定了几个与自身免疫性肝病相关的非HLA风险位点。最近的全基因组关联研究和重复分析报告称，CARD10多态性rs6000782的变异与1型自身免疫性肝炎（AIH）风险之间存在关联。在这项病例对照研究中，我们对326例日本AIH患者和214例对照者进行了基因分型。
结果
对540名日本裔个体的基因组DNA进行分析，其中包括326例1型AIH患者和214例健康对照者，检测CARD10基因中的两个单核苷酸多态性（SNP）。我们选择了CARD10 rs6000782 SNP，并使用PCR-RFLP方法和直接测序对其进行基因分型。卡方检验显示，在等位基因模型中，rs6000782变异等位基因（c）与日本人群中AIH的易感性无关[p = 0.376，比值比（OR）1.271，95%置信区间（CI）0.747 - 2.161]。我们的数据还表明，CARD10 rs6000782变异与AIH或AIH的临床参数无关。
结论
在本研究中，我们检测了CARD10基因中rs6000782 SNP与1型AIH之间的关联。结果显示，在日本人群中，rs62000782与1型AIH无显著关联。本研究证明，在日本人群中，CARD10 rs6000782变异与AIH无关联。
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