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Sökning: WFRF:(Mahjani B)

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  • Chozas, A., et al. (författare)
  • Family history of breast cancer is associated with elevated risk of prostate cancer : evidence for shared genetic risks
  • 2022
  • Ingår i: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 87, s. 12-19
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Although breast and prostate cancers arise in different organs and are more frequent in the opposite sex, multiple studies have reported an association between their family history. Analysis of single nucleotide polymorphism data, based on distant relatives, has revealed a small positive genetic correlation between these cancers explained by common variants. The estimate of genetic correlation based on close relatives reveals the extent to which shared genetic risks are explained by both common and rare variants. This estimate is unknown for breast and prostate cancer. Method: We estimated the relative risks, heritability, and genetic correlation of breast cancer and prostate cancer, based on the Minnesota Breast and Prostate Cancer Study, a family study of 141 families ascertained for breast cancer. Results: Heritability of breast cancer was 0.34 (95% credible interval: 0.23-0.49) and 0.65 (95% credible interval: 0.36-0.97) for prostate cancer, and the genetic correlation was 0.23. In terms of odds ratios, these values correspond to a 1.3 times higher odds of breast cancer among probands, given that the brother has prostate cancer. Conclusion: This study shows the inherent relation between prostate cancer and breast cancer; an incident of one in a family increases the risk of developing the other. The large difference between estimates of genetic correlation from distant and close relatives, if replicated, suggests that rare variants contribute to the shared genetic risk of breast and prostate cancer. However, the difference could steam from genotype-by-family effects shared between the two types of cancers. ©; 2021 The Author(s).
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  • Eriksson, Anders, 1975, et al. (författare)
  • Sequential Markov coalescent algorithms for population models with demographic structure.
  • 2009
  • Ingår i: Theoretical population biology. - : Elsevier BV. - 1096-0325 .- 0040-5809. ; 76:2, s. 84-91
  • Tidskriftsartikel (refereegranskat)abstract
    • We analyse sequential Markov coalescent algorithms for populations with demographic structure: for a bottleneck model, a population-divergence model, and for a two-island model with migration. The sequential Markov coalescent method is an approximation to the coalescent suggested by McVean and Cardin, and by Marjoram and Wall. Within this algorithm we compute, for two individuals randomly sampled from the population, the correlation between times to the most recent common ancestor and the linkage probability corresponding to two different loci with recombination rate R between them. These quantities characterise the linkage between the two loci in question. We find that the sequential Markov coalescent method approximates the coalescent well in general in models with demographic structure. An exception is the case where individuals are sampled from populations separated by reduced gene flow. In this situation, the correlations may be significantly underestimated. We explain why this is the case.
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  • Kępińska, AP, et al. (författare)
  • Familial risk of postpartum psychosis
  • 2024
  • Ingår i: medRxiv : the preprint server for health sciences.
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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  • Kepinska, A, et al. (författare)
  • FAMILIAL RISK OF POSTPARTUM PSYCHOSIS
  • 2023
  • Ingår i: EUROPEAN NEUROPSYCHOPHARMACOLOGY. - 0924-977X. ; 75, s. S239-S240
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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  • Mahjani, B, et al. (författare)
  • Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders
  • 2022
  • Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 13:10
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Recent studies report an important—and previously underestimated—role of rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders (CTD). Using data from a large epidemiological study, we evaluate the distribution of potentially damaging copy number variation (pdCNV) in OCD and CTD, examining associations between pdCNV and the phenotypes of probands, including a consideration of early- vs. late-diagnoses. Method: The Obsessive-Compulsive Inventory-Revised (OCI-R) questionnaire was used to ascertain psychometric profiles of OCD probands. CNV were identified genome-wide using chromosomal microarray data. Results: For 993 OCD cases, 86 (9%) were identified as pdCNV carriers. The most frequent pdCNV found was at the 16p13.11 region. There was no significant association between pdCNV and the OCI-R total score. However, pdCNV was associated with Obsessing and Checking subscores. There was no significant difference in pdCNV frequency between early- vs. late-diagnosed OCD probands. Of the 217 CTD cases, 18 (8%) were identified as pdCNV carriers. CTD probands with pdCNV were significantly more likely to have co-occurring autism spectrum disorder (ASD). Conclusions: pdCNV represents part of the risk architecture for OCD and CTD. If replicated, our findings suggest pdCNV impact some OCD symptoms. Genes within the 16p13.11 region are potential OCD risk genes.
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