Office of Research Integrity and Protections, Marshfield Clinic Research Foundation, 1000 North Oak Ave, Marshfield, WI 54449, USA.
PM R. 2011 Mar;3(3):193-7. doi: 10.1016/j.pmrj.2010.12.009.
To determine whether the apolipoprotein E4 (Apo E4) allele may be a genetic risk factor for fibromyalgia syndrome (FMS).
A retrospective assessment of associations between Apo E4 genotype and selected environmental exposures among a cohort diagnosed with FMS compared with control subjects.
Marshfield Clinic Research Foundation's Personalized Medicine Research Project (PMRP) biobank.
One hundred fifty-one case subjects with fibromyalgia and 300 age- and gender-matched control subjects.
Fibromyalgia case subjects were identified according to a strict phenotypic definition from among the nearly 20,000 subjects enrolled in the PMRP. Age- and gender-matched control subjects also were identified from the PMRP in a 2:1 control/case ratio. Apo E4 genotype was determined by single nucleotide polymorphism analysis for both case subjects with fibromyalgia and control subjects. Case subjects with fibromyalgia and control subjects were asked to assess their level of function and stress by completing the Short Form-36 and the Perceived Stress Scale.
Statistical associations between the Apo E4 genotype and phenotypic criteria (diagnosis of FMS) as well as historical environmental exposures as documented in the electronic medical record were assessed.
Approximately one quarter of both case subjects with fibromyalgia and control subjects were found to carry at least one Apo E4 allele. The odds ratio (OR) for case subjects with fibromyalgia who had ever been in a motor vehicle accident and subsequently had been diagnosed with FMS was increased among those with at least one copy of the Apo E4 allele (OR 7.04) compared with those without an Apo E4 allele (OR 1.90). The presence of an Apo E4 allele did not influence the degree of pain or level of function among those with FMS.
These data suggest that specific interactions between genetically susceptible individuals (eg, those with at least one copy of the Apo E4 allele) and the environment (eg, involvement in a motor vehicle accident) may contribute to the risk of being diagnosed with FMS, although Apo E4 allele status does not appear to modulate perceived FMS severity.
确定载脂蛋白 E4(Apo E4)等位基因是否可能是纤维肌痛综合征(FMS)的遗传风险因素。
对在 Marshfield 诊所个性化医学研究基金会(PMRP)生物库中诊断为 FMS 的队列中,Apo E4 基因型与选定环境暴露之间的关联进行回顾性评估,并与对照受试者进行比较。
Marshfield 诊所个性化医学研究基金会的生物库。
151 例纤维肌痛患者和 300 名年龄和性别匹配的对照者。
根据 PMRP 中近 20000 名受试者的严格表型定义,确定纤维肌痛病例。按照 2:1 的对照/病例比例,从 PMRP 中也确定了年龄和性别匹配的对照者。通过单核苷酸多态性分析确定纤维肌痛病例和对照者的 Apo E4 基因型。纤维肌痛病例和对照者被要求通过填写简明 36 项健康调查量表(SF-36)和感知压力量表来评估他们的功能和压力水平。
评估 Apo E4 基因型与表型标准(FMS 诊断)之间的统计学关联,以及电子病历中记录的历史环境暴露。
约四分之一的纤维肌痛病例和对照者携带至少一个 Apo E4 等位基因。与没有 Apo E4 等位基因的个体相比(比值比 [OR] 1.90),曾发生过机动车事故并随后被诊断为 FMS 的纤维肌痛病例中,至少携带一个 Apo E4 等位基因的个体发生 FMS 的比值比(OR)为 7.04。Apo E4 等位基因的存在并不影响 FMS 患者的疼痛程度或功能水平。
这些数据表明,遗传易感性个体(例如,至少携带一个 Apo E4 等位基因的个体)与环境(例如,涉及机动车事故)之间的特定相互作用可能导致 FMS 的诊断风险增加,尽管 Apo E4 等位基因状态似乎不会调节感知的 FMS 严重程度。