A1 Refereed original research article in a scientific journal
Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data
Authors: Nova Andrea; Baldrighi Giulia Nicole; Fazia Teresa; Graziano Francesca; Saddi Valeria; Piras Marialuisa; Beecham Ashley; McCauley Jacob L.; Bernardinelli Luisa
Publisher: MDPI AG
Publishing place: BASEL
Publication year: 2022
Journal: Life
Journal name in source: LIFE-BASEL
Journal acronym: LIFE-BASEL
Article number: 1101
Volume: 12
Issue: 7
First page : 1101
Number of pages: 15
eISSN: 2075-1729
DOI: https://doi.org/10.3390/life12071101
Web address : https://doi.org/10.3390/life12071101
Abstract
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 (h(2) = 0.77; 95%CI: 0.36, 1.00), Plat (h(2) = 0.70; 95%CI: 0.27, 0.95), Anxa1 (h(2) = 0.68; 95%CI: 0.27, 1.00), Sod1 (h(2) = 0.58; 95%CI: 0.18, 0.96), Irf8 (h(2) = 0.56; 95%CI: 0.19, 0.99), Ptger4 (h(2) = 0.45; 95%CI: 0.10, 0.96), and Fadd (h(2) = 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.
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 (h(2) = 0.77; 95%CI: 0.36, 1.00), Plat (h(2) = 0.70; 95%CI: 0.27, 0.95), Anxa1 (h(2) = 0.68; 95%CI: 0.27, 1.00), Sod1 (h(2) = 0.58; 95%CI: 0.18, 0.96), Irf8 (h(2) = 0.56; 95%CI: 0.19, 0.99), Ptger4 (h(2) = 0.45; 95%CI: 0.10, 0.96), and Fadd (h(2) = 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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