鉴定与西班牙南部女性纤维肌痛易感性相关的候选基因：安达卢西亚项目。
Identification of candidate genes associated with fibromyalgia susceptibility in southern Spanish women: the al-Ándalus project.
机构信息
Department of Physical Education and Sport, Faculty of Sport Sciences, University of Granada, Carretera de Alfacar, s/n, 18011, Granada, Spain.
Department of Psychology, Faculty of Social and Behavioural Sciences, Utrecht University, Utrecht, The Netherlands.
出版信息
J Transl Med. 2018 Feb 27;16(1):43. doi: 10.1186/s12967-018-1416-8.
BACKGROUND
Candidate-gene studies on fibromyalgia susceptibility often include a small number of single nucleotide polymorphisms (SNPs), which is a limitation. Moreover, there is a paucity of evidence in Europe. Therefore, we compared genotype frequencies of candidate SNPs in a well-characterised sample of Spanish women with fibromyalgia and healthy non-fibromyalgia women.
METHODS
A total of 314 women with a diagnosis of fibromyalgia (cases) and 112 non-fibromyalgia healthy (controls) women participated in this candidate-gene study. Buccal swabs were collected for DNA extraction. Using TaqMan™ OpenArray™, we analysed 61 SNPs of 33 genes related to fibromyalgia susceptibility, symptoms, or potential mechanisms.
RESULTS
We observed that the rs841 and rs1799971 GG genotype was more frequently observed in fibromyalgia than in controls (p = 0.04 and p = 0.02, respectively). The rs2097903 AT/TT genotypes were also more often present in the fibromyalgia participants than in their control peers (p = 0.04). There were no differences for the remaining SNPs.
CONCLUSIONS
We identified, for the first time, associations of the rs841 (guanosine triphosphate cyclohydrolase 1 gene) and rs2097903 (catechol-O-methyltransferase gene) SNPs with higher risk of fibromyalgia susceptibility. We also confirmed that the rs1799971 SNP (opioid receptor μ1 gene) might confer genetic risk of fibromyalgia. We did not adjust for multiple comparisons, which would be too stringent and yield to non-significant differences in the genotype frequencies between cases and controls. Our findings may be biologically meaningful and informative, and should be further investigated in other populations. Of particular interest is to replicate the present study in a larger independent sample to confirm or refute our findings. On the other hand, by including 61 SNPs of 33 candidate-genes with a strong rationale (they were previously investigated in relation to fibromyalgia susceptibility, symptoms or potential mechanisms), the present research is the most comprehensive candidate-gene study on fibromyalgia susceptibility to date.
背景
纤维肌痛易感性的候选基因研究通常包括少数单核苷酸多态性（SNPs），这是一个局限性。此外，在欧洲的证据也很少。因此，我们比较了一组西班牙纤维肌痛女性和健康非纤维肌痛女性的特征良好的样本中候选 SNP 的基因型频率。
方法
共有 314 名纤维肌痛诊断女性（病例）和 112 名非纤维肌痛健康女性（对照）参与了这项候选基因研究。采集口腔拭子进行 DNA 提取。使用 TaqMan™ OpenArray™，我们分析了 33 个与纤维肌痛易感性、症状或潜在机制相关的基因的 61 个 SNP。
结果
我们发现 rs841 和 rs1799971 GG 基因型在纤维肌痛患者中比对照组更常见（p=0.04 和 p=0.02）。rs2097903 AT/TT 基因型在纤维肌痛患者中也比对照组更常见（p=0.04）。其余 SNP 无差异。
结论
我们首次发现 rs841（鸟苷三磷酸环化水解酶 1 基因）和 rs2097903（儿茶酚-O-甲基转移酶基因）SNP 与纤维肌痛易感性的更高风险相关。我们还证实 rs1799971 SNP（阿片受体 μ1 基因）可能导致纤维肌痛的遗传风险。我们没有对基因型频率进行多重比较，因为这种方法过于严格，会导致病例和对照组之间的差异不显著。我们的发现可能具有生物学意义和信息性，应在其他人群中进一步研究。特别有趣的是，在更大的独立样本中复制本研究，以确认或反驳我们的发现。另一方面，通过纳入 33 个候选基因的 61 个 SNP（它们之前与纤维肌痛易感性、症状或潜在机制有关），本研究是迄今为止关于纤维肌痛易感性的最全面的候选基因研究。
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