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催产素受体基因()中的新型风险变异体可能与家族性 2 型糖尿病有关联。

Novel Risk Variants in the Oxytocin Receptor Gene () Possibly Linked to and Associated with Familial Type 2 Diabetes.

机构信息

French National Institute of Health and Medical Research (INSERM), US14-Orphanet, 75014 Paris, France.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Neelain University, Khartoum 11121, Sudan.

出版信息

Int J Mol Sci. 2023 Mar 27;24(7):6282. doi: 10.3390/ijms24076282.

DOI:10.3390/ijms24076282
PMID:37047255
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10094736/
Abstract

The oxytocin system is well-known for its role in social bonding and reproduction. Recently, the oxytocin system was found to play other metabolic roles such as regulation of food intake, peripheral glucose uptake, and insulin sensitivity. Variants in gene have been associated with overeating, increased cardiovascular risk, and type 2 diabetes (T2D). We tested 20 microarray-derived single nucleotide polymorphisms in the gene in 212 Italian families with rich family history for T2D and found four novel and one previously reported variant suggestively significant for linkage and association with the risk of T2D. Our study has shed some light into the genetics of susceptibility to T2D at least in Italian families.

摘要

催产素系统以其在社交联系和生殖方面的作用而闻名。最近,人们发现催产素系统还具有其他代谢作用,如调节食物摄入、外周葡萄糖摄取和胰岛素敏感性。基因中的变异与暴饮暴食、心血管风险增加和 2 型糖尿病(T2D)有关。我们在 212 个具有丰富 2 型糖尿病家族史的意大利家庭中测试了 20 个微阵列衍生的单核苷酸多态性,发现了四个新的和一个以前报道的变异体,它们与 T2D 的风险有显著的连锁和关联。我们的研究至少在意大利家庭中揭示了 2 型糖尿病易感性的遗传基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cad4/10094736/76f6cd4eb91c/ijms-24-06282-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cad4/10094736/76f6cd4eb91c/ijms-24-06282-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cad4/10094736/76f6cd4eb91c/ijms-24-06282-g001.jpg

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本文引用的文献

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The Polymorphism Stratified the Correlation of Oxytocin and Glucose Homeostasis in Non-Diabetic Subjects.该多态性对非糖尿病受试者中催产素与葡萄糖稳态的相关性进行了分层。
Diabetes Metab Syndr Obes. 2019 Dec 19;12:2707-2713. doi: 10.2147/DMSO.S226245. eCollection 2019.
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Association of oxytocin levels and oxytocin receptor gene polymorphism (rs2254298) with cardiovascular risk factors in Brazilian elderly from Primary Health Care.巴西初级卫生保健老年人群中心血管危险因素与催产素水平和催产素受体基因多态性(rs2254298)的关联。
Arch Gerontol Geriatr. 2019 Sep-Oct;84:103903. doi: 10.1016/j.archger.2019.103903. Epub 2019 Jul 3.
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Role of oxytocin in the control of stress and food intake.
催产素在应激和摄食控制中的作用。
J Neuroendocrinol. 2019 Mar;31(3):e12700. doi: 10.1111/jne.12700. Epub 2019 Mar 19.
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Predicting Splicing from Primary Sequence with Deep Learning.深度学习预测剪接。
Cell. 2019 Jan 24;176(3):535-548.e24. doi: 10.1016/j.cell.2018.12.015. Epub 2019 Jan 17.
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Obes Rev. 2019 Jan;20(1):22-40. doi: 10.1111/obr.12757. Epub 2018 Sep 25.
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SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine.SNPnexus:评估遗传变异的功能相关性,以促进精准医学的发展。
Nucleic Acids Res. 2018 Jul 2;46(W1):W109-W113. doi: 10.1093/nar/gky399.
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Oxytocin is present in islets and plays a role in beta-cell function and survival.催产素存在于胰岛中,在β细胞功能和存活中发挥作用。
Peptides. 2018 Feb;100:260-268. doi: 10.1016/j.peptides.2017.12.019. Epub 2017 Dec 20.
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Oxytocin and social functioning.催产素与社会功能
Dialogues Clin Neurosci. 2017 Jun;19(2):193-201. doi: 10.31887/DCNS.2017.19.2/cjones.
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Nucleic Acids Res. 2017 Jan 4;45(D1):D139-D144. doi: 10.1093/nar/gkw1064. Epub 2016 Nov 28.