Genetic anticipation and birth order effect in von Hippel-Lindau disease

2018 ◽  
Vol 17 (2) ◽  
pp. e1648
Author(s):  
J.Y. Wang ◽  
S.J. Liu ◽  
B.A. Hong ◽  
J.C. Zhou ◽  
K.F. Ma ◽  
...  
2019 ◽  
Author(s):  
Jiangyi Wang ◽  
Xiang Peng ◽  
Cen Chen ◽  
Xianghui Ning ◽  
Shuanghe Peng ◽  
...  

AbstractVon Hippel-Lindau (VHL) disease is a hereditary cancer syndrome with poor survival. The current recommendations have proposed uniform surveillance strategies for all patients, neglecting the obvious phenotypic varieties. In this study, we aim to confirm the phenotypic heterogeneity in VHL disease and the underlying mechanism. A total of 151 parent-child pairs were enrolled for genetic anticipation analysis, and 77 sibling pairs for birth order effect analysis. Four statistical methods were used to compare the onset age of patients among different generations and different birth orders. The results showed that the average onset age was 18.9 years earlier in children than in their parents, which was statistically significant in all of the four statistical methods. Furthermore, the first-born siblings were affected 8.3 years later than the other ones among the maternal patients. Telomere shortening was confirmed to be associated with genetic anticipation in VHL families, while it failed to explain the birth order effect. Moreover, no significant difference was observed for overall survival between parents and children (p=0.834) and between first-born patients and the other siblings (p=0.390). This study provides definitive evidence and possible mechanisms of intra-familial phenotypic heterogeneity in VHL families, which is helpful to the update of surveillance guidelines.


1960 ◽  
Vol 14 (72) ◽  
pp. 384
Author(s):  
C. C. Craig ◽  
D. E. Barton ◽  
F. N. David

2021 ◽  
Author(s):  
Johannes K Vilsmeier ◽  
Michael Kossmeier ◽  
Martin Voracek ◽  
Ulrich S. Tran

For a quarter of a century researchers investigating the origins of sexual orientation have largely ascribed to the fraternal birth order effect (FBOE) as a fact, holding that older brothers increase the odds of homosexual orientation among men through an immunoreactivity process. Here, we triangulate the empirical foundations of the FBOE from three distinct, informative perspectives: First, drawing on basic probability calculus, we deduce mathematically that the body of statistical evidence of the FBOE rests on the false assumptions that effects of family size should be controlled for and that this could be achieved through the use of ratio variables. Second, using a data-simulation approach, we demonstrate that by using ratio variables, researchers are bound to falsely declare corroborating evidence of an excess of older brothers at a rate of up to 100%, and that valid approaches attempting to quantify a potential excess of older brothers among homosexual men must control for the confounding effects of the number of older siblings. And third, we re-examine the empirical evidence of the FBOE by using a novel specification-curve and multiverse approach to meta-analysis. This yielded highly inconsistent and moreover similarly-sized effects across 64 male and 17 female samples (N = 2,778,998), compatible with an excess as well as with a lack of older brothers in both groups, thus, suggesting that almost no variation in the number of older brothers in men is attributable to sexual orientation.


Blood ◽  
2013 ◽  
Vol 121 (23) ◽  
pp. 4809-4811 ◽  
Author(s):  
Miranda P. Dierselhuis ◽  
Eric Spierings ◽  
Ronald Brand ◽  
Matthijs Hendriks ◽  
Angelica Canossi ◽  
...  

2017 ◽  
Vol 49 (54) ◽  
pp. 5523-5534 ◽  
Author(s):  
Lauren Calimeris ◽  
Christina Peters

2017 ◽  
Vol 28 (12) ◽  
pp. 1821-1832 ◽  
Author(s):  
Julia M. Rohrer ◽  
Boris Egloff ◽  
Stefan C. Schmukle

The idea that birth-order position has a lasting impact on personality has been discussed for the past 100 years. Recent large-scale studies have indicated that birth-order effects on the Big Five personality traits are negligible. In the current study, we examined a variety of more narrow personality traits in a large representative sample ( n = 6,500–10,500 in between-family analyses; n = 900–1,200 in within-family analyses). We used specification-curve analysis to assess evidence for birth-order effects across a range of models implementing defensible yet arbitrary analytical decisions (e.g., whether to control for age effects or to exclude participants on the basis of sibling spacing). Although specification-curve analysis clearly confirmed the previously reported birth-order effect on intellect, we found no meaningful effects on life satisfaction, locus of control, interpersonal trust, reciprocity, risk taking, patience, impulsivity, or political orientation. The lack of meaningful birth-order effects on self-reports of personality was not limited to broad traits but also held for more narrowly defined characteristics.


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