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1
Second-generation PLINK: rising to the challenge of larger and richer datasets.第二代PLINK:应对更大、更丰富数据集的挑战
Gigascience. 2015 Feb 25;4:7. doi: 10.1186/s13742-015-0047-8. eCollection 2015.
2
Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes.法医DNA表型分析:为调查目的从犯罪现场材料预测人类外貌特征。
Forensic Sci Int Genet. 2015 Sep;18:33-48. doi: 10.1016/j.fsigen.2015.02.003. Epub 2015 Feb 16.
3
Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science.检测ELOVL2标记物的DNA甲基化状态可能有助于法医学中的人类年龄预测。
Forensic Sci Int Genet. 2015 Jan;14:161-7. doi: 10.1016/j.fsigen.2014.10.002. Epub 2014 Oct 14.
4
Defining the role of common variation in the genomic and biological architecture of adult human height.确定常见变异在成年人类身高的基因组和生物学结构中的作用。
Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5.
5
Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.人类肤色受一种基因间DNA多态性影响,该多态性调控附近BNC2色素沉着基因的转录。
Hum Mol Genet. 2014 Nov 1;23(21):5750-62. doi: 10.1093/hmg/ddu289. Epub 2014 Jun 10.
6
The Rotterdam Study: 2014 objectives and design update.《鹿特丹研究:2014 年目标与设计更新》
Eur J Epidemiol. 2013 Nov;28(11):889-926. doi: 10.1007/s10654-013-9866-z. Epub 2013 Nov 21.
7
Common DNA variants predict tall stature in Europeans.常见的 DNA 变体可预测欧洲人的身高。
Hum Genet. 2014 May;133(5):587-97. doi: 10.1007/s00439-013-1394-0. Epub 2013 Nov 20.
8
Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.雄激素性脱发:四个遗传风险位点的鉴定及 WNT 信号通路对其发病机制的影响。
J Invest Dermatol. 2013 Jun;133(6):1489-96. doi: 10.1038/jid.2013.43. Epub 2013 Jan 28.
9
Characteristics of androgenetic alopecia in asian.亚洲人雄激素性脱发的特征
Ann Dermatol. 2012 Aug;24(3):243-52. doi: 10.5021/ad.2012.24.3.243. Epub 2012 Jul 25.
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Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.六个新的雄激素性脱发早发易感基因座及其与常见疾病的意外关联。
PLoS Genet. 2012 May;8(5):e1002746. doi: 10.1371/journal.pgen.1002746. Epub 2012 May 31.

从基因型预测男性型秃发。

Prediction of male-pattern baldness from genotypes.

作者信息

Liu Fan, Hamer Merel A, Heilmann Stefanie, Herold Christine, Moebus Susanne, Hofman Albert, Uitterlinden André G, Nöthen Markus M, van Duijn Cornelia M, Nijsten Tamar Ec, Kayser Manfred

机构信息

Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.

Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.

出版信息

Eur J Hum Genet. 2016 Jun;24(6):895-902. doi: 10.1038/ejhg.2015.220. Epub 2015 Oct 28.

DOI:10.1038/ejhg.2015.220
PMID:26508577
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4867459/
Abstract

The global demand for products that effectively prevent the development of male-pattern baldness (MPB) has drastically increased. However, there is currently no established genetic model for the estimation of MPB risk. We conducted a prediction analysis using single-nucleotide polymorphisms (SNPs) identified from previous GWASs of MPB in a total of 2725 German and Dutch males. A logistic regression model considering the genotypes of 25 SNPs from 12 genomic loci demonstrates that early-onset MPB risk is predictable at an accuracy level of 0.74 when 14 SNPs were included in the model, and measured using the area under the receiver-operating characteristic curves (AUC). Considering age as an additional predictor, the model can predict normal MPB status in middle-aged and elderly individuals at a slightly lower accuracy (AUC 0.69-0.71) when 6-11 SNPs were used. A variance partitioning analysis suggests that 55.8% of early-onset MPB genetic liability can be explained by common autosomal SNPs and 23.3% by X-chromosome SNPs. For normal MPB status in elderly individuals, the proportion of explainable variance is lower (42.4% for autosomal and 9.8% for X-chromosome SNPs). The gap between GWAS findings and the variance partitioning results could be explained by a large body of common DNA variants with small effects that will likely be identified in GWAS of increased sample sizes. Although the accuracy obtained here has not reached a clinically desired level, our model was highly informative for up to 19% of Europeans, thus may assist decision making on early MPB intervention actions and in forensic investigations.

摘要

全球对有效预防男性型秃发(MPB)产品的需求急剧增加。然而,目前尚无用于评估MPB风险的既定遗传模型。我们对总共2725名德国和荷兰男性中先前MPB全基因组关联研究(GWAS)鉴定出的单核苷酸多态性(SNP)进行了预测分析。一个考虑来自12个基因组位点的25个SNP基因型的逻辑回归模型表明,当模型中纳入14个SNP时,早发性MPB风险的预测准确率可达0.74,采用受试者工作特征曲线下面积(AUC)进行测量。将年龄作为额外的预测因素,当使用6 - 11个SNP时,该模型可以以稍低的准确率(AUC 0.69 - 0.71)预测中年和老年个体的正常MPB状态。方差划分分析表明,55.8%的早发性MPB遗传易感性可由常见常染色体SNP解释,23.3%可由X染色体SNP解释。对于老年个体的正常MPB状态,可解释变异的比例较低(常染色体为42.4%,X染色体SNP为9.8%)。GWAS结果与方差划分结果之间的差距可以用大量效应较小的常见DNA变异来解释,这些变异可能会在样本量增加的GWAS中被鉴定出来。尽管这里获得的准确率尚未达到临床期望水平,但我们的模型对高达19%的欧洲人具有高度信息性,因此可能有助于在早期MPB干预行动决策和法医调查中提供帮助。