Screening of genes interacting with high myopia and neuropsychiatric disorders
Abstract Clinical studies have demonstrated an association between high myopia (HM) and neuropsychiatric disorders; however, the underlying mechanism of the association is not clear. We used whole exome sequencing (WES) in combination with the Genetic Variants Classification Criteria and Guidelines...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2023-10-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-45463-y |
| _version_ | 1797276570723811328 |
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| author | Yang Liu Yang Liu Wen Zhang Zhong-Qi Xue Fang-Xia Zhang Wei-Gang Xu Wen-Juan Zhuang |
| author_facet | Yang Liu Yang Liu Wen Zhang Zhong-Qi Xue Fang-Xia Zhang Wei-Gang Xu Wen-Juan Zhuang |
| author_sort | Yang Liu |
| collection | DOAJ |
| description | Abstract Clinical studies have demonstrated an association between high myopia (HM) and neuropsychiatric disorders; however, the underlying mechanism of the association is not clear. We used whole exome sequencing (WES) in combination with the Genetic Variants Classification Criteria and Guidelines published by the American College of Medical Genetics (ACMG) and bioinformatics analysis to clarify the interrelationship between candidate genes. Causative genes for ocular diseases (45.38%) followed by neuropsychiatric disorders (22.69%) accounted for the highest proportion of genes that exhibited high pathogenicity in HM patients were found. Four pathogenic gene mutations were identified according to ACMG guidelines: c.164_165insACAGCA and c.C1760T in POLG, c.G1291A in COL5A1, and c.G10242T in ZNF469. Three causative genes for neuropsychiatric diseases, PTPRN2, PCDH15 and CDH23, were found to fall at the HM locus. The above results suggest that these genes may interact in high myopia and neuropsychiatric diseases. |
| first_indexed | 2024-03-07T15:30:04Z |
| format | Article |
| id | doaj.art-c56c77a478ee424696d77fac65846c88 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-07T15:30:04Z |
| publishDate | 2023-10-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-c56c77a478ee424696d77fac65846c882024-03-05T16:30:41ZengNature PortfolioScientific Reports2045-23222023-10-0113111010.1038/s41598-023-45463-yScreening of genes interacting with high myopia and neuropsychiatric disordersYang Liu0Yang Liu1Wen Zhang2Zhong-Qi Xue3Fang-Xia Zhang4Wei-Gang Xu5Wen-Juan Zhuang6People’s Hospital of Ningxia Hui Autonomous Region (Ningxia Eye Hospital)People’s Hospital of Ningxia Hui Autonomous Region (Ningxia Eye Hospital)People’s Hospital of Ningxia Hui Autonomous Region (Ningxia Eye Hospital)Department of Ophthalmology, Affiliated Hospital of Qingdao Binhai UniversityPeople’s Hospital of Ningxia Hui Autonomous Region (Ningxia Eye Hospital)People’s Hospital of Ningxia Hui Autonomous Region (Ningxia Eye Hospital)People’s Hospital of Ningxia Hui Autonomous Region (Ningxia Eye Hospital)Abstract Clinical studies have demonstrated an association between high myopia (HM) and neuropsychiatric disorders; however, the underlying mechanism of the association is not clear. We used whole exome sequencing (WES) in combination with the Genetic Variants Classification Criteria and Guidelines published by the American College of Medical Genetics (ACMG) and bioinformatics analysis to clarify the interrelationship between candidate genes. Causative genes for ocular diseases (45.38%) followed by neuropsychiatric disorders (22.69%) accounted for the highest proportion of genes that exhibited high pathogenicity in HM patients were found. Four pathogenic gene mutations were identified according to ACMG guidelines: c.164_165insACAGCA and c.C1760T in POLG, c.G1291A in COL5A1, and c.G10242T in ZNF469. Three causative genes for neuropsychiatric diseases, PTPRN2, PCDH15 and CDH23, were found to fall at the HM locus. The above results suggest that these genes may interact in high myopia and neuropsychiatric diseases.https://doi.org/10.1038/s41598-023-45463-y |
| spellingShingle | Yang Liu Yang Liu Wen Zhang Zhong-Qi Xue Fang-Xia Zhang Wei-Gang Xu Wen-Juan Zhuang Screening of genes interacting with high myopia and neuropsychiatric disorders Scientific Reports |
| title | Screening of genes interacting with high myopia and neuropsychiatric disorders |
| title_full | Screening of genes interacting with high myopia and neuropsychiatric disorders |
| title_fullStr | Screening of genes interacting with high myopia and neuropsychiatric disorders |
| title_full_unstemmed | Screening of genes interacting with high myopia and neuropsychiatric disorders |
| title_short | Screening of genes interacting with high myopia and neuropsychiatric disorders |
| title_sort | screening of genes interacting with high myopia and neuropsychiatric disorders |
| url | https://doi.org/10.1038/s41598-023-45463-y |
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