Advances in the Genetics of Hypertension: The Effect of Rare Variants
Worldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of b...
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| Format: | Article |
| Language: | English |
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MDPI AG
2018-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | http://www.mdpi.com/1422-0067/19/3/688 |
| _version_ | 1811231666063015936 |
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| author | Alessia Russo Cornelia Di Gaetano Giovanni Cugliari Giuseppe Matullo |
| author_facet | Alessia Russo Cornelia Di Gaetano Giovanni Cugliari Giuseppe Matullo |
| author_sort | Alessia Russo |
| collection | DOAJ |
| description | Worldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of blood pressure (BP) is estimated to be 30–50%. A great effort was made to find genetic variants affecting BP levels through Genome-Wide Association Studies (GWAS). This approach relies on the “common disease–common variant” hypothesis and led to the identification of multiple genetic variants which explain, in aggregate, only 2–3% of the genetic variance of hypertension. Part of the missing genetic information could be caused by variants too rare to be detected by GWAS. The use of exome chips and Next-Generation Sequencing facilitated the discovery of causative variants. Here, we report the advances in the detection of novel rare variants, genes, and/or pathways through the most promising approaches, and the recent statistical tests that have emerged to handle rare variants. We also discuss the need to further support rare novel variants with replication studies within larger consortia and with deeper functional studies to better understand how new genes might improve patient care and the stratification of the response to antihypertensive treatments. |
| first_indexed | 2024-04-12T10:48:47Z |
| format | Article |
| id | doaj.art-407b70fdb5f84821b141c350e1276aa8 |
| institution | Directory Open Access Journal |
| issn | 1422-0067 |
| language | English |
| last_indexed | 2024-04-12T10:48:47Z |
| publishDate | 2018-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-407b70fdb5f84821b141c350e1276aa82022-12-22T03:36:19ZengMDPI AGInternational Journal of Molecular Sciences1422-00672018-02-0119368810.3390/ijms19030688ijms19030688Advances in the Genetics of Hypertension: The Effect of Rare VariantsAlessia Russo0Cornelia Di Gaetano1Giovanni Cugliari2Giuseppe Matullo3Department of Medical Sciences, University of Turin, 10126 Turin, ItalyDepartment of Medical Sciences, University of Turin, 10126 Turin, ItalyDepartment of Medical Sciences, University of Turin, 10126 Turin, ItalyDepartment of Medical Sciences, University of Turin, 10126 Turin, ItalyWorldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of blood pressure (BP) is estimated to be 30–50%. A great effort was made to find genetic variants affecting BP levels through Genome-Wide Association Studies (GWAS). This approach relies on the “common disease–common variant” hypothesis and led to the identification of multiple genetic variants which explain, in aggregate, only 2–3% of the genetic variance of hypertension. Part of the missing genetic information could be caused by variants too rare to be detected by GWAS. The use of exome chips and Next-Generation Sequencing facilitated the discovery of causative variants. Here, we report the advances in the detection of novel rare variants, genes, and/or pathways through the most promising approaches, and the recent statistical tests that have emerged to handle rare variants. We also discuss the need to further support rare novel variants with replication studies within larger consortia and with deeper functional studies to better understand how new genes might improve patient care and the stratification of the response to antihypertensive treatments.http://www.mdpi.com/1422-0067/19/3/688essential hypertensionblood pressuregenome-wide association studiesexome microarraynext-generation sequencingrare variantsrare-variants association testingburden testsequence kernel association test |
| spellingShingle | Alessia Russo Cornelia Di Gaetano Giovanni Cugliari Giuseppe Matullo Advances in the Genetics of Hypertension: The Effect of Rare Variants International Journal of Molecular Sciences essential hypertension blood pressure genome-wide association studies exome microarray next-generation sequencing rare variants rare-variants association testing burden test sequence kernel association test |
| title | Advances in the Genetics of Hypertension: The Effect of Rare Variants |
| title_full | Advances in the Genetics of Hypertension: The Effect of Rare Variants |
| title_fullStr | Advances in the Genetics of Hypertension: The Effect of Rare Variants |
| title_full_unstemmed | Advances in the Genetics of Hypertension: The Effect of Rare Variants |
| title_short | Advances in the Genetics of Hypertension: The Effect of Rare Variants |
| title_sort | advances in the genetics of hypertension the effect of rare variants |
| topic | essential hypertension blood pressure genome-wide association studies exome microarray next-generation sequencing rare variants rare-variants association testing burden test sequence kernel association test |
| url | http://www.mdpi.com/1422-0067/19/3/688 |
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