| 1. |
- de Jong, S, et al.
(author)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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In: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Journal article (peer-reviewed)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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| 3. |
- Diaz, S, et al.
(author)
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Acoustic radiation force impulse (ARFI) elastography in a cohort of alpha-1 antitrypsin-deficient individuals and healthy volunteers
- 2018
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In: Acta radiologica open. - : SAGE Publications. - 2058-4601. ; 7:4, s. 2058460118768363-
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Journal article (peer-reviewed)abstract
- Acoustic radiation force impulse (ARFI) elastography has been used to assess liver stiffness non-invasively. However, its usefulness in alpha-1 antitripsin-deficient (AATD) individuals is unknown. Purpose To assess if liver fibrosis is present in a cohort of AATD individuals using ARFI elastography. Material and Methods Eighty-three participants aged 38–39 years, except for two who were aged 40 years, underwent ultrasound elastography of the liver with ARFI technique. Twenty-nine were homozygote ZZ genotype, PiZZ (14 men, 15 women); 12 were SZ genotype, Pi SZ (8 men, 4 women), and 42 were healthy volunteers, PiMM (16 men, 26 women). Three specific liver anatomical regions were examined: segments 2/3 (left lobe) in the subcostal plane, and 5/6 and 7/8 (right lobe) in the intercostal space. In each region, three measurements were registered. Results There was no statistically significant difference between ARFI-median in the AATD group and the control group ( P value = 0.877) and neither between AATD groups (PiZZ and PiSZ) with a P value = 0.259. The ARFI-median was lower in the right liver lobe than in the left lobe in all groups and the difference between both lobes was statistically significant ( P = 0.001). No statistically significant difference was found in ARFI-median of the right liver lobe between the AATD group and the control group ( P = 0.759), nor between the AATD group ( P = 0.384). No gender difference was found in ARFI-median. Conclusions ARFI values in AATD individuals aged 38–39 years showed no difference compare to healthy participants.
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