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Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.普拉德-威利综合征：临床、遗传及内分泌学研究结果综述
J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11.
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Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.与罕见肥胖相关疾病（普拉德-威利综合征和阿尔斯特伦综合征）相关的编码和非编码表达模式
Adv Genomics Genet. 2015;2015(5):53-75. doi: 10.2147/AGG.S74598.
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Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction.肥胖的临床相关已知基因和候选基因及其与人类不孕不育和生殖的重叠情况。
J Assist Reprod Genet. 2015 Apr;32(4):495-508. doi: 10.1007/s10815-014-0411-0. Epub 2015 Jan 29.
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Effect of body mass index on global DNA methylation in healthy Korean women.体重指数对健康韩国女性全基因组DNA甲基化的影响。
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Prader-Willi syndrome.普拉德-威利综合征。
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普拉德-威利综合征中全基因组甲基化及靶向印记基因检测

Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome.

作者信息

Manzardo A M, Butler M G

机构信息

Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd, MS 4015, Kansas City, Kansas, USA.

Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd, MS 4015, Kansas City, Kansas, USA; Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA.

出版信息

J Clin Epigenet. 2016;2(3). doi: 10.21767/2472-1158.100026. Epub 2016 Sep 5.

DOI:10.21767/2472-1158.100026
PMID:28111641
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5241703/
Abstract

CONTEXT

Methylation changes observed in Prader-Willi syndrome (PWS) may impact global methylation as well as regional methylation status of imprinted genes on chromosome 15 (in cis) or other imprinted obesity-related genes on other chromosomes (in trans) leading to differential effects on gene expression impacting obesity phenotype unique to (PWS).

OBJECTIVE

Characterize the global methylation profiles and methylation status for select imprinted genes associated with obesity phenotype in a well-characterized imprinted, obesity-related syndrome (PWS) relative to a cohort of obese and non-obese individuals.

DESIGN

Global methylation was assayed using two methodologies: 1) enriched LINE-1 repeat sequences by EpigenDx and 2) ELISA-based immunoassay method sensitive to genomic 5-methylcytosine by Epigentek. Target gene methylation patterns at selected candidate obesity gene loci were determined using methylation-specific PCR.

SETTING

Study participants were recruited as part of an ongoing research program on obesity-related genomics and Prader-Willi syndrome.

PARTICIPANTS

Individuals with non-syndromic obesity (N=26), leanness (N=26) and PWS (N=39).

RESULTS

A detailed characterization of the imprinting status of select target genes within the critical PWS 15q11-q13 genomic region showed enhanced cis but not trans methylation of imprinted genes. No significant differences in global methylation were found between non-syndromic obese, PWS or non-obese controls.

INTERVENTION

None.

MAIN OUTCOME MEASURES

Percentage methylation and the methylation index.

CONCLUSION

The methylation abnormality in PWS due to errors of genomic imprinting effects both upstream and downstream effectors in the 15q11-q13 region showing enhanced cis but not trans methylation of imprinted genes. Obesity in our subject cohorts did not appear to impact global methylation levels using the described methodology.

摘要

背景

普拉德-威利综合征（PWS）中观察到的甲基化变化可能会影响全基因组甲基化以及15号染色体上印记基因的区域甲基化状态（顺式）或其他染色体上与肥胖相关的印记基因的区域甲基化状态（反式），从而对影响PWS特有的肥胖表型的基因表达产生不同影响。

目的

相对于肥胖和非肥胖个体队列，在一个特征明确的与肥胖相关的印记综合征（PWS）中，表征与肥胖表型相关的选定印记基因的全基因组甲基化谱和甲基化状态。

设计

使用两种方法检测全基因组甲基化：1）EpigenDx公司富集的LINE-1重复序列；2）Epigentek公司基于酶联免疫吸附测定法对基因组5-甲基胞嘧啶敏感。使用甲基化特异性PCR确定选定的候选肥胖基因位点的靶基因甲基化模式。

背景

研究参与者是作为一项正在进行的肥胖相关基因组学和普拉德-威利综合征研究项目的一部分招募的。

参与者

非综合征性肥胖个体（N = 26）、瘦个体（N = 26）和PWS个体（N = 39）。

结果

关键PWS 15q11-q13基因组区域内选定靶基因印记状态的详细表征显示，印记基因的顺式甲基化增强，但反式甲基化未增强。非综合征性肥胖、PWS或非肥胖对照组之间在全基因组甲基化方面未发现显著差异。

干预措施

无。

主要观察指标

甲基化百分比和甲基化指数。

结论

由于基因组印记错误导致的PWS甲基化异常影响了15q11-q13区域的上下游效应因子，显示印记基因的顺式甲基化增强，但反式甲基化未增强。使用所述方法，我们研究队列中的肥胖似乎并未影响全基因组甲基化水平。