autosomal recessive disorders
Conditions
Interventions
None listed
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Cases : -are defined as consanguineous parents of a child that is affected by an autosomal recessive disorder -This autosomal recessive disorder has not occurred in the family before. Controls : -are defined as consanguineous parents without (previous) affected children and with at least three healthy children. In our study we restrict ourselves to couples with an inbreeding coefficient (F) of at least F= 1/128. This inbreeding coefficient must be clear from the family tree that include ALL third-degree family members (including great grandparents) of the couple, to make sure equally reliable and sufficient information is obtained in all pedigrees. ;Cohort: Consanguineous couples with a desire to have children. There are no previous cases of autosomal recessive disorders in the family.
Exclusion criteria
Exclusion criteria: - the nature of the disorder of the affected child is not clear - the disease has occurred in the family before - the inbreeding coefficient is less than 1/128
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| For every individual a genotype is formed by using the SNP's. With this information for all couples the inbreeding coefficient is estimated. The estimates of inbreeding coefficient will be used as an outcome variable in the case-controle study. The expected outcome of these analyses is that the actual degree of relatedness (i.e. estimated from genotype data) of the cases is highger than the degree of relatedness of the controls. For our cohort design a logistic regression analysis will be performed with the inbreeding coefficient as independent variable. With this information an odds-ratio can be estimated for the relationship between the inbreeding coefficient and the risk of having a child with an autosomal recessive disorder. | — |
Countries
Netherlands
Outcome results
None listed