scholarly journals Familial Segregation of Venous Thromboembolism in Sweden: A Nationwide Family Study of Heritability and Complex Segregation Analysis

2021 ◽  
Author(s):  
Bengt Zöller ◽  
MirNabi Pirouzifard ◽  
Peter J. Svensson ◽  
Björn Holmquist ◽  
Emelie Stenman ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Segregation Analysis ◽  
First Generation ◽  
Family Study ◽  
Familial Aggregation ◽  
Major Type ◽  
Shared Environment ◽  
Complex Segregation Analysis ◽  
Swedish Patient ◽  
Selection Of

Background This is the first nationwide segregation analysis that aimed to determine whether familial venous thromboembolism (VTE) is attributable to inheritance and/or shared environment, and the possible mode of inheritance. Methods and Results The Swedish Multi‐Generation Register was linked to the Swedish patient register for the period 1964 to 2015. Three generational families of Swedish‐born individuals were identified. Heritability was examined using Falconer regression. Complex segregation analysis was conducted using the Statistical Analysis for Genetic Epidemiology software (version 6.4, 64‐bit Linux). Among the 4 301 174 relatives from 450 558 pedigrees, 177 865 (52% women) individuals were affected with VTE. VTE occurred in 2 or more affected relatives in 61 217 (13.6%) of the pedigrees. Heritability showed age and sex dependence with higher heritability for men and young individuals. In 18 933 pedigrees, VTE occurred only in the first generation and was not inherited. Segregation analysis was performed in the remaining 42 284 pedigrees with inherited VTE and included 939 192 individuals. Prevalence constraints were imposed in the models to allow for the selection of the pedigrees analyzed. The sporadic nongenetic model could be discarded. The major‐type‐only model, with a correlation structure compatible with some polygenic effects, was the preferred model. Among the Mendelian models, the mixed codominant (plus polygenic) model was preferred. Conclusions This nationwide segregation analysis of VTE supports a genetic cause of the familial aggregation of VTE. Heritability was higher for men and younger individuals, suggesting a Carter effect, in agreement with a multifactorial threshold inheritance.

The genetics of Crohn disease: Complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives

1989 ◽  
Vol 32 (1) ◽  
pp. 105-108 ◽  
Author(s):  
Wolfgang Küster ◽  
Leigh Pascoe ◽  
Jochen Purrmann ◽  
Sabine Funk ◽  
Frank Majewski ◽  
...  
Keyword(s):  
Crohn Disease ◽  
Segregation Analysis ◽  
Family Study ◽  
Disease Complex ◽  
Complex Segregation Analysis

scholarly journals Complex Segregation Analysis Provides Evidence for Autosomal Dominant Transmission in the Chinese Han Families with Ankylosing Spondylitis

2017 ◽  
Vol 2017 ◽  
pp. 1-6
Author(s):  
Yutong Jiang ◽  
Qing Lv ◽  
Shaoqi Rao ◽  
Zetao Liao ◽  
Pingping Zhang ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
General Model ◽  
Segregation Analysis ◽  
Familial Aggregation ◽  
Major Gene ◽  
Dominant Mode ◽  
Chinese Han ◽  
Complex Segregation Analysis ◽  
Familial Association ◽  
Mode Of Inheritance

Introduction. Familial aggregation of ankylosing spondylitis (AS) has been frequently noticed. However, the mode of inheritance in AS remains poorly understood. Our aim was to determine the mode of inheritance best fitting the observed transmission pattern of AS families. Methods. Families with 5 or more AS patients diagnosed with 1984 modified New York criteria were recruited. We performed complex segregation analysis for a binary trait in regressive multivariate logistic models. The inheritance models, including sporadic, major gene, environmental, general, and other 9 models, were compared by likelihood ratio tests and Akaike’s Information Criterion. Results. This research included 9 Chinese Han AS families with a total number of 315 persons, including 74 patients. First, familial association was determined. Sporadic with familial association model was rejected when compared with either the general model or the homogeneous general model (p<0.001). The environmental model was also rejected when compared with general models (p<0.02). Mendelian dominate mode fitted best in 5 AS families, while Tau AB free model best explained the mode of inheritance in these AS families. Conclusion. This study provided evidence in support of Mendelian dominant mode and firstly discovered a non-Mendelian mode called tau AB free inheritance mode in AS.

Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study

2006 ◽  
Vol 59 (5) ◽  
pp. 788-795 ◽  
Author(s):  
Shannon K. McDonnell ◽  
Daniel J. Schaid ◽  
Alexis Elbaz ◽  
Kari J. Strain ◽  
James H. Bower ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mayo Clinic ◽  
Segregation Analysis ◽  
Family Study ◽  
Complex Segregation Analysis

scholarly journals Complex segregation analysis of 1,792 cleft lip and palate families in South America: 1967-1997

2003 ◽  
Vol 17 (2) ◽  
pp. 161-165 ◽  
Author(s):  
Alexandre Rezende Vieira ◽  
Paul Anthony Romitti ◽  
Iêda Maria Orioli ◽  
Eduardo Enrique Castilla
Keyword(s):  
Segregation Analysis ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Disease Risk ◽  
Familial Aggregation ◽  
South American ◽  
Susceptibility Loci ◽  
Complex Segregation Analysis ◽  
Best Fitting ◽  
Fitting Model

Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains uncertain. We report the results of complex segregation analysis performed in South American families with a newborn affected with CL/P. Families of 1,792 consecutive newborns affected with CL/P and registered during the period 1967 to 1997 were studied. A model that did not include a major locus was the best-fitting model for CL/P families. This result is in agreement with previous studies which showed a significant association of several putative susceptibility loci and CL/P, indicating that the genes involved in CL/P are likely to have only a very modest impact on disease risk.

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