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Common and Unique Genetic Background between Attention-Deficit/Hyperactivity Disorder and Excessive Body Weight
Genes ( IF 2.8 ) Pub Date : 2021-09-13 , DOI: 10.3390/genes12091407
Monika Dmitrzak-Weglarz 1 , Elzbieta Paszynska 2 , Karolina Bilska 1 , Paula Szczesniewska 3 , Ewa Bryl 3 , Joanna Duda 1 , Agata Dutkiewicz 4 , Marta Tyszkiewicz-Nwafor 4 , Piotr Czerski 1 , Tomasz Hanc 3 , Agnieszka Slopien 4
Affiliation  

Comorbidity studies show that children with ADHD have a higher risk of being overweight and obese than healthy children. This study aimed to assess the genetic alternations that differ between and are shared by ADHD and excessive body weight (EBW). The sample consisted of 743 Polish children aged between 6 and 17 years. We analyzed a unique set of genes and polymorphisms selected for ADHD and/or obesity based on gene prioritization tools. Polymorphisms in the KCNIP1, SLC1A3, MTHFR, ADRA2A, and SLC6A2 genes proved to be associated with the risk of ADHD in the studied population. The COMT gene polymorphism was one that specifically increased the risk of EBW in the ADHD group. Using the whole-exome sequencing technique, we have shown that the ADHD group contains rare and protein-truncating variants in the FBXL17, DBH, MTHFR, PCDH7, RSPH3, SPTBN1, and TNRC6C genes. In turn, variants in the ADRA2A, DYNC1H1, MAP1A, SEMA6D, and ZNF536 genes were specific for ADHD with EBW. In this way, we confirmed, at the molecular level, the existence of genes specifically predisposing to EBW in ADHD patients, which are associated with the biological pathways involved in the regulation of the reward system, intestinal microbiome, and muscle metabolism.

中文翻译:

注意缺陷/多动障碍与体重过重之间的共同和独特的遗传背景

合并症研究表明,与健康儿童相比,患有多动症的儿童超重和肥胖的风险更高。本研究旨在评估 ADHD 和体重过重 (EBW) 之间不同和共有的遗传改变。样本包括 743 名 6 至 17 岁的波兰儿童。我们根据基因优先排序工具分析了为 ADHD 和/或肥胖症选择的一组独特的基因和多态性。KCNIP1、SLC1A3、MTHFR、ADRA2A和 SLC6A2基因的多态性被证明与研究人群中 ADHD 的风险相关。委员会_基因多态性是一种特别增加 ADHD 组 EBW 风险的基因多态性。使用全外显子组测序技术,我们已经证明 ADHD 组在FBXL17、DBH、MTHFR、PCDH7、RSPH3、SPTBN1TNRC6C基因中含有罕见的蛋白质截断变体。反过来,ADRA2A、DYNC1H1、MAP1A、SEMA6DZNF536基因中的变体对伴有 EBW 的 ADHD 具有特异性。通过这种方式,我们在分子水平上证实了 ADHD 患者存在 EBW 易感基因,这些基因与参与调节奖赏系统、肠道微生物组和肌肉代谢的生物学途径有关。
更新日期:2021-09-13
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