Hao Lixiao, Jia Jianguo, Xing Yue, Han Ying
Department of General Practice, Xuanwu Hospital of Capital Medical University, Beijing, China.
Radiological Sciences, Division of Clinical Neuroscience, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom.
Front Neurosci. 2022 Jun 3;16:829031. doi: 10.3389/fnins.2022.829031. eCollection 2022.
Previous reports on ε4 allele distribution in different populations have been inconclusive. The Subjective Cognitive Decline-Questionnaire 9 (SCD-Q9) was developed to identify those at risk of objective cognitive impairment [OCI; including mild cognitive impairment (MCI) and dementia groups), but its association with ε4 and discriminatory powers for SCD (SCDs) and OCI in memory clinics are unclear.
To investigate demographic distribution of ε4, its association with SCD-Q9 scores, and its ability to discriminate SCDs and OCI groups from normal control (NC).
A total of 632 participants were recruited (NC = 243, SCDs = 298, OCI = 91). ε4 allele distribution and association with SCD-Q9 scores were calculated and the effects on cognitive impairment were analyzed. Receiver operating characteristic (ROC) analysis was applied to identify discriminatory powers for NC, SCDs, and OCI.
Total ε4 frequency was 13.1%. This did not vary by demography but was higher in patients with OCI. The SCD-Q9 scores were higher in ε4 carriers than non-carriers in the OCI group. The area under the curve (AUC) for discriminating from OCI using ε4 were 0.587 and 0.575, using SCD-Q9 scores were 0.738 and 0.571 for NC and SCDs groups, respectively. When we combined ε4 and SCD-Q9 scores into the model, the AUC increased to 0.747 for discriminating OCI from NC. However, when OCI group was split into MCI and dementia groups, only total SCD-Q9 score was the independent affecting factor of MCI.
This study demonstrated that the distribution of ε4 alleles did not vary with different demographic characteristics in a large-scale cohort from a memory clinic. ε4 alleles may be associated with scores of SCD-Q9 reflecting the degree of cognitive complaints but their additional contribution to SCD-Q9 scores is marginal in discriminating between NC, SCDs, and OCI.
先前关于不同人群中ε4等位基因分布的报告尚无定论。主观认知衰退问卷9(SCD-Q9)旨在识别有客观认知障碍风险的人群[包括轻度认知障碍(MCI)和痴呆组],但其与ε4的关联以及在记忆门诊中对主观认知衰退(SCDs)和客观认知障碍(OCI)的鉴别能力尚不清楚。
研究ε4的人口统计学分布、其与SCD-Q9评分的关联,以及其区分SCDs和OCI组与正常对照(NC)的能力。
共招募632名参与者(NC = 243,SCDs = 298,OCI = 91)。计算ε4等位基因分布及其与SCD-Q9评分的关联,并分析其对认知障碍的影响。应用受试者操作特征(ROC)分析来确定对NC、SCDs和OCI的鉴别能力。
ε4总频率为13.1%。这在不同人口统计学特征中无差异,但在OCI患者中更高。在OCI组中,ε4携带者的SCD-Q9评分高于非携带者。使用ε4区分OCI的曲线下面积(AUC)分别为0.587和0.575,使用SCD-Q9评分区分NC和SCDs组的AUC分别为0.738和0.571。当我们将ε4和SCD-Q9评分纳入模型时,区分OCI与NC的AUC增加到0.747。然而,当OCI组分为MCI和痴呆组时,只有总SCD-Q9评分是MCI的独立影响因素。
本研究表明,在记忆门诊的大规模队列中,ε4等位基因的分布不因不同的人口统计学特征而变化。ε4等位基因可能与反映认知主诉程度的SCD-Q9评分相关,但其对SCD-Q9评分在区分NC、SCDs和OCI方面的额外贡献很小。