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纤维肌痛家族研究:一项全基因组连锁扫描研究。

The fibromyalgia family study: a genome-wide linkage scan study.

作者信息

Arnold Lesley M, Fan Jinbo, Russell I Jon, Yunus Muhammad B, Khan Muhammad Asim, Kushner Irving, Olson Jane M, Iyengar Sudha K

机构信息

Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, Cincinnati, Ohio 44106, USA.

出版信息

Arthritis Rheum. 2013 Apr;65(4):1122-8. doi: 10.1002/art.37842.

DOI:10.1002/art.37842
PMID:23280346
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3618544/
Abstract

OBJECTIVE

Familial aggregation of fibromyalgia has been increasingly recognized. The goal of this study was to conduct a genome-wide linkage scan to identify susceptibility loci for fibromyalgia.

METHODS

We genotyped members of 116 families from the Fibromyalgia Family Study and performed a model-free genome-wide linkage analysis of fibromyalgia with 341 microsatellite markers, using the Haseman-Elston regression approach.

RESULTS

The estimated sibling recurrence risk ratio (λs ) for fibromyalgia was 13.6 (95% confidence interval 10.0-18.5), based on a reported population prevalence of 2%. Genome-wide suggestive evidence of linkage was observed at markers D17S2196 (empirical P [Pe ]=0.00030) and D17S1294 (Pe=0.00035) on chromosome 17p11.2-q11.2.

CONCLUSION

The estimated sibling recurrence risk ratio (λs ) observed in this study suggests a strong genetic component of fibromyalgia. This is the first report of genome-wide suggestive linkage of fibromyalgia to the chromosome 17p11.2-q11.2 region. Further investigation of these multicase families from the Fibromyalgia Family Study is warranted to identify potential causal risk variants for fibromyalgia.

摘要

目的

纤维肌痛的家族聚集现象已得到越来越多的认识。本研究的目的是进行全基因组连锁扫描,以确定纤维肌痛的易感基因座。

方法

我们对纤维肌痛家族研究中116个家庭的成员进行了基因分型,并使用Haseman-Elston回归方法,对341个微卫星标记进行了纤维肌痛的无模型全基因组连锁分析。

结果

根据报道的2%的人群患病率,纤维肌痛的估计同胞复发风险率(λs)为13.6(95%置信区间10.0-18.5)。在17号染色体p11.2-q11.2区域的标记D17S2196(经验P值[Pe]=0.00030)和D17S1294(Pe=0.00035)处观察到全基因组连锁的提示性证据。

结论

本研究中观察到的估计同胞复发风险率(λs)表明纤维肌痛有很强的遗传成分。这是纤维肌痛与17号染色体p11.2-q11.2区域全基因组连锁提示性的首次报道。有必要对纤维肌痛家族研究中的这些多病例家庭进行进一步调查,以确定纤维肌痛潜在的因果风险变异。

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Eur J Pain. 2013 Jan;17(1):16-27. doi: 10.1002/j.1532-2149.2012.00153.x. Epub 2012 Apr 24.
2
Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data.挑战与方向:通过合并家系数据中的罕见变异对遗传分析研讨会17数据进行分析
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S30. doi: 10.1186/1753-6561-5-S9-S30.
3
Use of principal components to aggregate rare variants in case-control and family-based association studies in the presence of multiple covariates.在存在多个协变量的情况下,在病例对照研究和基于家系的关联研究中使用主成分来汇总罕见变异。
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S29. doi: 10.1186/1753-6561-5-S9-S29.
4
Enriching rare variants using family-specific linkage information.利用家族特异性连锁信息富集罕见变异体。
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S82. doi: 10.1186/1753-6561-5-S9-S82.
5
Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies.使用寡基因分离分析作为全外显子组测序研究的优先排序工具成功鉴定罕见变异。
BMC Proc. 2011 Nov 29;5 Suppl 9(Suppl 9):S11. doi: 10.1186/1753-6561-5-S9-S11.
6
Linkage analysis in the next-generation sequencing era.下一代测序时代的连锁分析。
Hum Hered. 2011;72(4):228-36. doi: 10.1159/000334381. Epub 2011 Dec 23.
7
Exome sequencing as a tool for Mendelian disease gene discovery.外显子组测序作为孟德尔疾病基因发现的工具。
Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031.
8
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Arthritis Rheum. 2012 Feb;64(2):584-93. doi: 10.1002/art.33338.
9
Whole exome and whole genome sequencing.全外显子组和全基因组测序。
Curr Opin Pediatr. 2011 Dec;23(6):594-600. doi: 10.1097/MOP.0b013e32834b20ec.
10
Whole-genome sequencing for optimized patient management.全基因组测序优化患者管理。
Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.