SERINC2 increases the risk of bipolar disorder in the Chinese population
| Autor: | Tian Xu, Diane Manry, Xuan Li, Qiuxia Wu, Jiaojiao Li, Yongli Dong, Yukun Pan, Hao Chang, Xiongchao Cheng, Bo Cao, Liping Cao, Chanjuan Yang, Jianshan Chen, Jiaqi Sun, Dong Yang |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Oncology
medicine.medical_specialty China Bipolar Disorder Pedigree chart White matter Internal medicine Exome Sequencing medicine Humans Genetic Predisposition to Disease Bipolar disorder Calcium ion binding Gene Exome sequencing Chinese population medicine.diagnostic_test business.industry Membrane Proteins Magnetic resonance imaging medicine.disease Pedigree Psychiatry and Mental health Clinical Psychology medicine.anatomical_structure Case-Control Studies business |
| Zdroj: | Depression and anxietyREFERENCES. 38(9) |
| ISSN: | 1520-6394 |
| Popis: | Background Although common variants in a large collection of patients are associated with increased risk for bipolar disorder (BD), studies have only been able to predict 25%-45% of risks, suggesting that lots of variants that contribute to the risk for BD haven't been identified. Our study aims to identify novel BD risk genes. Methods We performed whole-exome sequencing of 27 individuals from 6 BD multi-affected Chinese families to identify candidate variants. Targeted sequencing of one of the novel risk genes, SERINC2, in additional sporadic 717 BD patients and 312 healthy controls (HC) validated the association. Magnetic resonance imaging (MRI) were performed to evaluate the effect of the variant to brain structures from 213 subjects (4 BD subjects from a multi-affected family, 130 sporadic BD subjects and 79 HC control). Results BD pedigrees had an increased burden of uncommon variants in extracellular matrix (ECM) and calcium ion binding. By large-scale sequencing we identified a novel recessive BD risk gene, SERINC2, which plays a role in synthesis of sphingolipid and phosphatidylserine (PS). MRI image results show the homozygous nonsense variant in SERINC2 affects the volume of white matter in cerebellum. Conclusions Our study identified SERINC2 as a risk gene of BD in the Chinese population. |
| Databáze: | OpenAIRE |
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