Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data
This work aimed at estimating narrow-sense heritability, defined as the proportion of the phenotypic variance explained by the sum of additive genetic effects, via Haseman–Elston regression for a subset of 56 plasma protein levels related to Multiple Sclerosis (MS). These were measured in 212 relate...
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MDPI AG
2022-07-01
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| Online Access: | https://www.mdpi.com/2075-1729/12/7/1101 |
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| author | Andrea Nova Giulia Nicole Baldrighi Teresa Fazia Francesca Graziano Valeria Saddi Marialuisa Piras Ashley Beecham Jacob L. McCauley Luisa Bernardinelli |
| author_facet | Andrea Nova Giulia Nicole Baldrighi Teresa Fazia Francesca Graziano Valeria Saddi Marialuisa Piras Ashley Beecham Jacob L. McCauley Luisa Bernardinelli |
| author_sort | Andrea Nova |
| collection | DOAJ |
| description | This work aimed at estimating narrow-sense heritability, defined as the proportion of the phenotypic variance explained by the sum of additive genetic effects, via Haseman–Elston regression for a subset of 56 plasma protein levels related to Multiple Sclerosis (MS). These were measured in 212 related individuals (with 69 MS cases and 143 healthy controls) obtained from 20 Sardinian families with MS history. Using pedigree information, we found seven statistically significant heritable plasma protein levels (after multiple testing correction), i.e., Gc (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.77; 95%CI: 0.36, 1.00), Plat (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.70; 95%CI: 0.27, 0.95), Anxa1 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.68; 95%CI: 0.27, 1.00), Sod1 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.58; 95%CI: 0.18, 0.96), Irf8 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.56; 95%CI: 0.19, 0.99), Ptger4 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.45; 95%CI: 0.10, 0.96), and Fadd (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.41; 95%CI: 0.06, 0.84). A subsequent analysis was performed on these statistically significant heritable plasma protein levels employing Immunochip genotyping data obtained in 155 healthy controls (92 related and 63 unrelated); we found a meaningful proportion of heritable plasma protein levels’ variability explained by a small set of SNPs. Overall, the results obtained, for these seven MS-related proteins, emphasized a high additive genetic variance component explaining plasma levels’ variability. |
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| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-09T13:30:07Z |
| publishDate | 2022-07-01 |
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| spelling | doaj.art-57a90e715d2a47139988516b4380f34d2023-11-30T21:18:39ZengMDPI AGLife2075-17292022-07-01127110110.3390/life12071101Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping DataAndrea Nova0Giulia Nicole Baldrighi1Teresa Fazia2Francesca Graziano3Valeria Saddi4Marialuisa Piras5Ashley Beecham6Jacob L. McCauley7Luisa Bernardinelli8Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, ItalyDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, ItalyDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, ItalyCentre of Biostatistics for Clinical Epidemiology, University of Milano-Bicocca, 20900 Monza, ItalyDivisione di Neurologia, Presidio Ospedaliero S. Francesco, ASL Numero 3 Nuoro, 08100 Nuoro, ItalyDivisione di Neurologia, Presidio Ospedaliero S. Francesco, ASL Numero 3 Nuoro, 08100 Nuoro, ItalyJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33146, USAJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33146, USADepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, ItalyThis work aimed at estimating narrow-sense heritability, defined as the proportion of the phenotypic variance explained by the sum of additive genetic effects, via Haseman–Elston regression for a subset of 56 plasma protein levels related to Multiple Sclerosis (MS). These were measured in 212 related individuals (with 69 MS cases and 143 healthy controls) obtained from 20 Sardinian families with MS history. Using pedigree information, we found seven statistically significant heritable plasma protein levels (after multiple testing correction), i.e., Gc (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.77; 95%CI: 0.36, 1.00), Plat (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.70; 95%CI: 0.27, 0.95), Anxa1 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.68; 95%CI: 0.27, 1.00), Sod1 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.58; 95%CI: 0.18, 0.96), Irf8 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.56; 95%CI: 0.19, 0.99), Ptger4 (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.45; 95%CI: 0.10, 0.96), and Fadd (<inline-formula><math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><msup><mi>h</mi><mn>2</mn></msup></mrow></semantics></math></inline-formula> = 0.41; 95%CI: 0.06, 0.84). A subsequent analysis was performed on these statistically significant heritable plasma protein levels employing Immunochip genotyping data obtained in 155 healthy controls (92 related and 63 unrelated); we found a meaningful proportion of heritable plasma protein levels’ variability explained by a small set of SNPs. Overall, the results obtained, for these seven MS-related proteins, emphasized a high additive genetic variance component explaining plasma levels’ variability.https://www.mdpi.com/2075-1729/12/7/1101heritabilityplasma protein levelsImmunochip SNPsmultiple sclerosis |
| spellingShingle | Andrea Nova Giulia Nicole Baldrighi Teresa Fazia Francesca Graziano Valeria Saddi Marialuisa Piras Ashley Beecham Jacob L. McCauley Luisa Bernardinelli Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data Life heritability plasma protein levels Immunochip SNPs multiple sclerosis |
| title | Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data |
| title_full | Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data |
| title_fullStr | Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data |
| title_full_unstemmed | Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data |
| title_short | Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data |
| title_sort | heritability estimation of multiple sclerosis related plasma protein levels in sardinian families with immunochip genotyping data |
| topic | heritability plasma protein levels Immunochip SNPs multiple sclerosis |
| url | https://www.mdpi.com/2075-1729/12/7/1101 |
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