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造血表达同源盒基因与KK Cg-A/J小鼠及台湾汉族人群的2型糖尿病相关。

Hematopoietically expressed homeobox gene is associated with type 2 diabetes in KK Cg-A/J mice and a Taiwanese Han Chinese population.

作者信息

Lu Chi-Cheng, Chen Yng-Tay, Chen Shih-Yin, Hsu Yuan-Man, Lin Chyi-Chyang, Tsao Je-Wei, Juan Yu-Ning, Yang Jai-Sing, Tsai Fuu-Jen

机构信息

Department of Pharmacy, Buddhist Tzu Chi General Hospital, Hualien 97002, Taiwan, R.O.C.

Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40447, Taiwan, R.O.C.

出版信息

Exp Ther Med. 2018 Jul;16(1):185-191. doi: 10.3892/etm.2018.6152. Epub 2018 May 10.

DOI:10.3892/etm.2018.6152
PMID:29896239
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5995076/
Abstract

Diabetes mellitus (DM) is a chronic disease. The KK Cg-A/J (KK-A) mouse is an animal model to study type 2 diabetes mellitus (T2D) disease. The present study assessed the expression of hematopoietically expressed homeobox (HHEX) protein in liver tissues of different age groups of mice (6, 16 and 42 weeks) by immunohistochemistry (IHC). The results demonstrated a significant decrease in the percentage of HHEX-positive cells in KK-A mice as compared with that in KK-α/α control mice. Furthermore, in Taiwan's Han Chinese population, genotypic and allelic frequency distributions of the rs61862780 single-nucleotide polymorphism (SNP) in the gene were investigated. The results demonstrated that in the rs61862780 SNP of the 3'-untranslated region (UTR) of HHEX, the frequency of the CC genotype was higher in patients (6.0%) than in controls (2.7%), while the TT genotype frequency was about equal. In the same SNP, the frequency of the C allele was higher in patients (21.0%) than in controls (17.3%), while the T allele frequency was about equal. These results may pave the road for exploring the KK-A mouse model and the HHEX SNP rs61862780, which was correlated with the susceptibility to T2D in a Chinese population. Based on these findings, an association of gene expression with pathological features of T2D was indicated.

摘要

糖尿病(DM)是一种慢性疾病。KK Cg-A/J(KK-A)小鼠是一种用于研究2型糖尿病(T2D)疾病的动物模型。本研究通过免疫组织化学(IHC)评估了不同年龄组(6周、16周和42周)小鼠肝脏组织中造血表达同源盒(HHEX)蛋白的表达情况。结果表明,与KK-α/α对照小鼠相比,KK-A小鼠中HHEX阳性细胞的百分比显著降低。此外,在台湾汉族人群中,对HHEX基因中rs61862780单核苷酸多态性(SNP)的基因型和等位基因频率分布进行了研究。结果表明,在HHEX 3'非翻译区(UTR)的rs61862780 SNP中,患者的CC基因型频率(6.0%)高于对照组(2.7%),而TT基因型频率大致相等。在同一SNP中,患者的C等位基因频率(21.0%)高于对照组(17.3%),而T等位基因频率大致相等。这些结果可能为探索KK-A小鼠模型和与中国人群T2D易感性相关的HHEX SNP rs61862780铺平道路。基于这些发现,表明了HHEX基因表达与T2D病理特征之间的关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1829/5995076/58c2e35cb2c0/etm-16-01-0185-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1829/5995076/a2dd2fcaa1fa/etm-16-01-0185-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1829/5995076/58c2e35cb2c0/etm-16-01-0185-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1829/5995076/a2dd2fcaa1fa/etm-16-01-0185-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1829/5995076/58c2e35cb2c0/etm-16-01-0185-g01.jpg

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