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Life is pain: Fibromyalgia as a nexus of multiple liability distributions
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2023-06-19 , DOI: 10.1002/ajmg.b.32949
Arden Moscati 1 , Annika B Faucon 2, 3 , Cayetana Arnaiz-Yépez 2 , Sara Larsson Lönn 4 , Jan Sundquist 4, 5, 6, 7 , Kristina Sundquist 4, 5, 6, 7 , Gillian M Belbin 8, 9 , Girish Nadkarni 1 , Judy H Cho 1, 9, 10 , Ruth J F Loos 1, 11 , Lea K Davis 2, 3 , Kenneth S Kendler 12
Affiliation  

Fibromyalgia is a complex disease of unclear etiology that is complicated by difficulties in diagnosis, treatment, and clinical heterogeneity. To clarify this etiology, healthcare-based data are leveraged to assess the influences on fibromyalgia in several domains. Prevalence is less than 1% of females in our population register data, and about 1/10th that in males. Fibromyalgia often presents with co-occurring conditions including back pain, rheumatoid arthritis, and anxiety. More comorbidities are identified with hospital-associated biobank data, falling into three broad categories of pain-related, autoimmune, and psychiatric disorders. Selecting representative phenotypes with published genome-wide association results for polygenic scoring, we confirm genetic predispositions to psychiatric, pain sensitivity, and autoimmune conditions show associations with fibromyalgia, although these may differ by ancestry group. We conduct a genome-wide association analysis of fibromyalgia in biobank samples, which did not result in any genome-wide significant loci; further studies with increased sample size are necessary to identify specific genetic effects on fibromyalgia. Overall, fibromyalgia appears to have strong clinical and likely genetic links to several disease categories, and could usefully be understood as a composite manifestation of these etiological sources.

中文翻译:

生命就是痛苦:纤维肌痛是多重责任分布的纽带

纤维肌痛是一种病因不明的复杂疾病,由于诊断、治疗困难和临床异质性而变得复杂。为了阐明这一病因,利用基于医疗保健的数据来评估几个领域对纤维肌痛的影响。根据我们的人口登记数据,女性的患病率不到 1%,男性的患病率约为 1/10。纤维肌痛通常伴有并发病症,包括背痛、类风湿性关节炎和焦虑。通过医院相关的生物样本库数据发现了更多的合并症,分为三大类:疼痛相关疾病、自身免疫性疾病和精神疾病。选择具有已发表的全基因组关联结果的代表性表型进行多基因评分,我们确认精神、疼痛敏感性和自身免疫性疾病的遗传倾向与纤维肌痛有关,尽管这些可能因祖先群体而异。我们对生物库样本中的纤维肌痛进行了全基因组关联分析,没有产生任何全基因组显着位点;有必要增加样本量进行进一步研究,以确定对纤维肌痛的特定遗传影响。总体而言,纤维肌痛似乎与多种疾病类别具有很强的临床和可能的遗传联系,并且可以有效地理解为这些病因来源的复合表现。
更新日期:2023-06-19
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