Applications of genomic research in pediatric endocrine diseases
Recent advances in molecular genetics have advanced our understanding of the molecular mechanisms involved in pediatric endocrine disorders and now play a major role in mainstream medical practice. The spectrum of endocrine genetic disorders has 2 extremes: Mendelian and polygenic. Mendelian or mono...
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| Format: | Article |
| Language: | English |
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The Korean Pediatric Society
2023-12-01
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| Series: | Clinical and Experimental Pediatrics |
| Subjects: | |
| Online Access: | http://www.e-cep.org/upload/pdf/cep-2022-00948.pdf |
| _version_ | 1797405593681526784 |
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| author | Ja Hye Kim Jin-Ho Choi |
| author_facet | Ja Hye Kim Jin-Ho Choi |
| author_sort | Ja Hye Kim |
| collection | DOAJ |
| description | Recent advances in molecular genetics have advanced our understanding of the molecular mechanisms involved in pediatric endocrine disorders and now play a major role in mainstream medical practice. The spectrum of endocrine genetic disorders has 2 extremes: Mendelian and polygenic. Mendelian or monogenic diseases are caused by rare variants of a single gene, each of which exerts a strong effect on disease risk. Polygenic diseases or common traits are caused by the combined effects of multiple genetic variants in conjunction with environmental and lifestyle factors. Testing for a single gene is preferable if the disease is phenotypically and/or geneically homogeneous. Next-generation sequencing (NGS) can be applied to phenotypically and genetically heterogeneous conditions. Genome-wide association studies (GWASs) have examined genetic variants across the entire genome in a large number of individuals who have been matched for population ancestry and assessed for a disease or trait of interest. Common endocrine diseases or traits, such as type 2 diabetes mellitus, obesity, height, and pubertal timing, result from the combined effects of multiple variants in various genes that are frequently found in the general population, each of which contributes a small individual effect. Isolated founder mutations can result from a true founder effect or an extreme reduction in population size. Studies of founder mutations offer powerful advantages for efficiently localizing the genes that underlie Mendelian disorders. The Korean population has settled in the Korean peninsula for thousands of years, and several recurrent mutations have been identified as founder mutations. The application of molecular technology has increased our understanding of endocrine diseases, which have impacted on the practice of pediatric endocrinology related to diagnosis and genetic counseling. This review focuses on the application of genomic research to pediatric endocrine diseases using GWASs and NGS technology for diagnosis and treatment. |
| first_indexed | 2024-03-09T03:13:14Z |
| format | Article |
| id | doaj.art-c85505f2ed1d4d8d90c77225c7cd5212 |
| institution | Directory Open Access Journal |
| issn | 2713-4148 |
| language | English |
| last_indexed | 2024-03-09T03:13:14Z |
| publishDate | 2023-12-01 |
| publisher | The Korean Pediatric Society |
| record_format | Article |
| series | Clinical and Experimental Pediatrics |
| spelling | doaj.art-c85505f2ed1d4d8d90c77225c7cd52122023-12-03T23:03:03ZengThe Korean Pediatric SocietyClinical and Experimental Pediatrics2713-41482023-12-01661252053010.3345/cep.2022.0094820125555638Applications of genomic research in pediatric endocrine diseasesJa Hye Kim0Jin-Ho Choi1 Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, KoreaRecent advances in molecular genetics have advanced our understanding of the molecular mechanisms involved in pediatric endocrine disorders and now play a major role in mainstream medical practice. The spectrum of endocrine genetic disorders has 2 extremes: Mendelian and polygenic. Mendelian or monogenic diseases are caused by rare variants of a single gene, each of which exerts a strong effect on disease risk. Polygenic diseases or common traits are caused by the combined effects of multiple genetic variants in conjunction with environmental and lifestyle factors. Testing for a single gene is preferable if the disease is phenotypically and/or geneically homogeneous. Next-generation sequencing (NGS) can be applied to phenotypically and genetically heterogeneous conditions. Genome-wide association studies (GWASs) have examined genetic variants across the entire genome in a large number of individuals who have been matched for population ancestry and assessed for a disease or trait of interest. Common endocrine diseases or traits, such as type 2 diabetes mellitus, obesity, height, and pubertal timing, result from the combined effects of multiple variants in various genes that are frequently found in the general population, each of which contributes a small individual effect. Isolated founder mutations can result from a true founder effect or an extreme reduction in population size. Studies of founder mutations offer powerful advantages for efficiently localizing the genes that underlie Mendelian disorders. The Korean population has settled in the Korean peninsula for thousands of years, and several recurrent mutations have been identified as founder mutations. The application of molecular technology has increased our understanding of endocrine diseases, which have impacted on the practice of pediatric endocrinology related to diagnosis and genetic counseling. This review focuses on the application of genomic research to pediatric endocrine diseases using GWASs and NGS technology for diagnosis and treatment.http://www.e-cep.org/upload/pdf/cep-2022-00948.pdffounder effectgenome-wide association studynext-generation sequencing |
| spellingShingle | Ja Hye Kim Jin-Ho Choi Applications of genomic research in pediatric endocrine diseases Clinical and Experimental Pediatrics founder effect genome-wide association study next-generation sequencing |
| title | Applications of genomic research in pediatric endocrine diseases |
| title_full | Applications of genomic research in pediatric endocrine diseases |
| title_fullStr | Applications of genomic research in pediatric endocrine diseases |
| title_full_unstemmed | Applications of genomic research in pediatric endocrine diseases |
| title_short | Applications of genomic research in pediatric endocrine diseases |
| title_sort | applications of genomic research in pediatric endocrine diseases |
| topic | founder effect genome-wide association study next-generation sequencing |
| url | http://www.e-cep.org/upload/pdf/cep-2022-00948.pdf |
| work_keys_str_mv | AT jahyekim applicationsofgenomicresearchinpediatricendocrinediseases AT jinhochoi applicationsofgenomicresearchinpediatricendocrinediseases |