González-Rodríguez Laura, González Luz María, García-Herráiz Angustias, Mota-Zamorano Sonia, Flores Isalud, Gervasini Guillermo
Department of Medical & Surgical Therapeutics, Medical School, University of Extremadura, 06006 Badajoz, Spain.
Eating Disorders Unit, Health Service of Extremadura, 06010 Badajoz, Spain.
J Clin Med. 2024 Sep 1;13(17):5189. doi: 10.3390/jcm13175189.
: This study aimed to investigate whether genetic variations in the gene affect psychopathological symptoms and personality dimensions in eating disorders (ED) patients and/or contribute to ED risk. : The study involved 221 female patients with anorexia nervosa (AN), 88 with bulimia nervosa (BN), and 396 controls. Sixteen tag-single nucleotide polymorphisms (SNPs) in were identified. Psychometric evaluations were conducted using the Symptom Checklist 90 Revised (SCL-90R) and the Eating Disorders Inventory Test-2 (EDI-2). -values obtained by regression models were corrected for multiple testing by the False Discovery Rate (FDR) method. : In AN patients, genotypes rs204077TT and rs169450TT were linked to lower body-mass index (BMI) values (FDR-q = 0.035 and 0.017, respectively), as was rs2234918 in a log-additive model (BMI: 18.0 ± 0.28, 17.22 ± 0.18 and 16.59 ± 0.39 for TT, TC and CC carriers, FDR-q = 0.012). Additionally, AN patients carrying the rs72665504AA genotype had higher scores in interpersonal distrust (FDR-q = 0.030), whilst BN carriers of rs513269TT and rs2873795TT showed lower scores in ineffectiveness (FDR-q = 0.041 and FDR-q = 0.021). In the AN group, BMI correlated with variability in a distal haplotype (rs508448/rs204077/rs223491, FDR-q = 0.028), which was also associated with the global positive symptom total (PST) index of SCL-90R (FDR-q = 0.048). Associations were more noticeable in BN patients; again, the distal region of the gene was linked to EDI-2 total scores (FDR-q = 0.004-0.048 for the four last haplotypes) and two global SCL-90R indices (GSI: FDR-q = 0.011 and positive symptom distress index (PSDI): FDR-q = 0.003 for the last s204077/rs2234918/rs169450 combination). No associations with ED risk were observed. : Genetic variation in the gene, particularly in its distal region, is associated with BMI and psychopathological comorbidities in ED patients.
本研究旨在调查该基因的遗传变异是否会影响饮食失调（ED）患者的精神病理症状和人格维度，和/或导致饮食失调风险。该研究纳入了221名神经性厌食症（AN）女性患者、88名神经性贪食症（BN）患者和396名对照者。在该基因中鉴定出16个标签单核苷酸多态性（SNP）。使用症状自评量表90修订版（SCL - 90R）和饮食失调量表测试 - 2（EDI - 2）进行心理测量评估。通过回归模型获得的P值采用错误发现率（FDR）方法进行多重检验校正。在AN患者中，基因型rs204077TT和rs169450TT与较低的体重指数（BMI）值相关（FDR - q分别为0.035和0.017），rs2234918在对数加性模型中也是如此（TT、TC和CC携带者的BMI分别为：18.0±0.28、17.22±0.18和16.59±0.39，FDR - q = 0.012）。此外，携带rs72665504AA基因型的AN患者在人际不信任方面得分较高（FDR - q = 0.030），而rs513269TT和rs2873795TT的BN携带者在无效感方面得分较低（FDR - q = 0.041和FDR - q = 0.021）。在AN组中，BMI与一个远端单倍型（rs508448/rs204077/rs223491）的变异性相关（FDR - q = 0.028），该单倍型也与SCL - 90R的总体阳性症状总分（PST）指数相关（FDR - q = 0.048）。在BN患者中关联更为明显；同样，该基因的远端区域与EDI - 2总分相关（最后四个单倍型的FDR - q = 0.004 - 0.048）以及两个SCL - 90R总体指数（总体症状指数：FDR - q = 0.011，阳性症状困扰指数（PSDI）：最后一个s204077/rs2234918/rs169450组合的FDR - q = 0.003）。未观察到与饮食失调风险的关联。该基因的遗传变异，特别是其远端区域的变异，与饮食失调患者的BMI和精神病理合并症相关。
