Journal article
Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
Annals of human genetics, Vol.79(6), pp.402-417
11/2015
DOI: 10.1111/ahg.12131
PMID: 26420437
Abstract
Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations' mating patterns in the past. We performed microarray genotyping on 15 individuals from a small isolated Tunisian community. We estimated the individual and population genome-wide level of homozygosity from data on ROH above 0.5 Mb in length. We found a high average number of ROH per individual (48.2). The smallest ROH category (0.5-1.49 Mb) represents 0.93% of the whole genome, while medium-size (1.5-4.99 Mb) and long-size ROH (>= 5 Mb) cover 1.18% and 0.95%, respectively. We found that genealogical individual inbreeding coefficients (Fped) based on three-to four-generation pedigrees are not reliable indicators of the current proportion of genome-wide homozygosity inferred from ROH (FROH) either for 0.5 or 1.5 Mb ROH length thresholds, while identity-by-descent sharing is a function of shared coancestry. This study emphasizes the effect of reproductive isolation and a prolonged practice of consanguinity that limits the genetic heterogeneity. It also provides evidence of both recent and ancient parental relatedness contribution to the current level of genome-wide homozygosity in the studied population. These findings may be useful for evaluation of long-term effects of inbreeding on human health and for future applications of ROHs in identifying recessive susceptibility genes.
Details
- Title: Subtitle
- Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
- Creators
- Nizar Ben Halim - Institut Pasteur de TunisMajdi Nagara - Institut Pasteur de TunisBéatrice Regnault - Institut PasteurSana Hsouna - Institut Pasteur de TunisKhaled Lasram - Institut Pasteur de TunisRym Kefi - Institut Pasteur de TunisHela Azaiez - Institut Pasteur de TunisLaroussi Khemira - Institut Pasteur de TunisRachid Saidane - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics LaboratorySlim Ben Ammar - Institut Pasteur de TunisGhazi Besbes - Hôpital La RabtaDominique Weil - Institut PasteurChristine Petit - Institut PasteurSonia Abdelhak - Institut Pasteur de TunisLilia Romdhane - Institut Pasteur de Tunis
- Resource Type
- Journal article
- Publication Details
- Annals of human genetics, Vol.79(6), pp.402-417
- Publisher
- Wiley
- DOI
- 10.1111/ahg.12131
- PMID
- 26420437
- ISSN
- 0003-4800
- eISSN
- 1469-1809
- Language
- English
- Date published
- 11/2015
- Academic Unit
- Otolaryngology
- Record Identifier
- 9984383892302771
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