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Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.基因分型阵列在人类遗传学研究中检测极罕见变异的不可靠性：来自近期一项黑素皮质素4受体（MC4R）研究的实例
Cell. 2021 Apr 1;184(7):1651. doi: 10.1016/j.cell.2021.03.015.
2
Reply to Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.对人类遗传学研究中基因分型阵列检测极罕见变异的不可靠性的回应：来自近期一项黑素皮质素4受体（MC4R）研究的实例
Cell. 2021 Apr 1;184(7):1652-1653. doi: 10.1016/j.cell.2021.03.014.
3
Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.某些黑素皮质素 4 受体基因 (MC4R) 变体与女性型脱发的易感性无关。
Arch Dermatol Res. 2013 Apr;305(3):249-53. doi: 10.1007/s00403-012-1296-3. Epub 2012 Nov 5.
4
The genetic epidemiology of melanocortin 4 receptor variants.黑素皮质素 4 受体变异的遗传流行病学。
Eur J Pharmacol. 2011 Jun 11;660(1):156-64. doi: 10.1016/j.ejphar.2011.01.033. Epub 2011 Feb 2.
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MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.MC4R 变异 rs12970134 和 rs17782313 与沙特阿拉伯西部地区肥胖型多囊卵巢综合征患者相关。
BMC Med Genet. 2019 Aug 20;20(1):144. doi: 10.1186/s12881-019-0876-x.
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Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants.携带功能改变的黑皮质素-4受体变体的人类受试者中的脑源性神经营养因子
Int J Obes (Lond). 2014 Aug;38(8):1068-74. doi: 10.1038/ijo.2013.221. Epub 2013 Nov 26.
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The Effect Sizes of rs1801282 rs9939609, and rs2229616 Variants on Type 2 Diabetes Mellitus Risk among the Western Saudi Population: A Cross-Sectional Prospective Study.rs1801282 rs9939609 和 rs2229616 变异与沙特西部人群 2 型糖尿病风险的关联：一项横断面前瞻性研究。
Genes (Basel). 2020 Jan 14;11(1):98. doi: 10.3390/genes11010098.
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A polymorphism in the melanocortin 4 receptor gene (MC4R:c.92C>T) is associated with diabetes mellitus in overweight domestic shorthaired cats.黑素皮质素4受体基因（MC4R:c.92C>T）的一种多态性与超重家猫的糖尿病有关。
J Vet Intern Med. 2014 Mar-Apr;28(2):458-64. doi: 10.1111/jvim.12275. Epub 2013 Dec 26.
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The MC4R genetic variants are associated with lower visceral fat accumulation and higher postprandial relative increase in carbohydrate utilization in humans.MC4R 基因变异与人类内脏脂肪积累减少和餐后碳水化合物利用率相对增加有关。
Eur J Nutr. 2019 Oct;58(7):2929-2941. doi: 10.1007/s00394-019-01955-0. Epub 2019 Apr 3.
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Clinical and functional relevance of melanocortin-4 receptor variants in obese German children.肥胖德国儿童的黑素皮质素-4 受体变异体的临床和功能相关性。
Horm Res Paediatr. 2012;78(4):237-46. doi: 10.1159/000343816. Epub 2012 Nov 6.

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Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.群体队列中单基因疾病致病变异体外显率的估计指南。
Nat Genet. 2024 Sep;56(9):1772-1779. doi: 10.1038/s41588-024-01842-3. Epub 2024 Jul 29.
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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.临床基因组资源（ClinGen）低外显率/风险等位基因工作组关于风险等位基因证据整理、分类和报告的建议。
Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3.
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Array genotyping as diagnostic approach in medical genetics.基因芯片技术在医学遗传学中的诊断应用
Mol Genet Genomic Med. 2022 Sep;10(9):e2016. doi: 10.1002/mgg3.2016. Epub 2022 Aug 1.
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Islet MC4R Regulates PC1/3 to Improve Insulin Secretion in T2DM Mice via the cAMP and β-arrestin-1 Pathways.胰岛 MC4R 通过 cAMP 和β-arrestin-1 通路调节 PC1/3 以改善 T2DM 小鼠的胰岛素分泌。
Appl Biochem Biotechnol. 2022 Dec;194(12):6164-6178. doi: 10.1007/s12010-022-04089-y. Epub 2022 Jul 28.

本文引用的文献

1
Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.使用 SNP 芯片检测罕见的致病性变异：回顾性、基于人群的诊断评估。
BMJ. 2021 Feb 15;372:n214. doi: 10.1136/bmj.n214.
2
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.人类功能获得性 MC4R 变体显示信号转导偏向并预防肥胖。
Cell. 2019 Apr 18;177(3):597-607.e9. doi: 10.1016/j.cell.2019.03.044.
3
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.在人群环境中评估疑似致病变异的致病性、外显率和表现度。
Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18.

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.

作者信息

Weedon Michael N, Wright Caroline F, Patel Kashyap A, Frayling Timothy M

机构信息

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.

出版信息

Cell. 2021 Apr 1;184(7):1651. doi: 10.1016/j.cell.2021.03.015.

DOI:10.1016/j.cell.2021.03.015
PMID:33798434
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7611986/
Abstract
摘要