ArticleAmerican journal of human genetics2006
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers.
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Who cites it
131 citing papers in PubMed, 265 citations in OpenAlex.
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- Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Benchmarking genetic birth prevalence estimates against newborn screening data.American journal of human genetics · 2026Article
- AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.Biology · 2025Article
- Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.Genome medicine · 2025Article
- The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents.Biology · 2025Article
- Characterization of a novel unliked 12 X-STR typing assay for forensic purposes in an admixed Rio de Janeiro population sample.Genetics and molecular biology · 2025Article
- The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.Frontiers in immunology · 2025Review
- Parental Consanguinity and Family History in Relation to Psoriasis and the Role of Sex: A Case-Control Study.Human heredity · 2025Article
- Consanguinity:Sultan Qaboos University medical journal · 2025Article
- Genomic and Conventional Inbreeding Coefficient Estimation Using Different Estimator Models in Korean Duroc, Landrace, and Yorkshire Breeds Using 70K Porcine SNP BeadChip.Animals : an open access journal from MDPI · 2024Article
- Using Runs of Homozygosity and Machine Learning to Disentangle Sources of Inbreeding and Infer Self-Fertilization Rates.Genome biology and evolution · 2024Article
- Awareness of consanguineous marriage burden and willingness towards premarital genetic testing in Sudan: a national cross-sectional study.Annals of medicine and surgery (2012) · 2024Article
- The Maintenance of Deleterious Variation in Wild Chinese Rhesus Macaques.Genome biology and evolution · 2024Article
- The Maintenance of Deleterious Variation in Wild Chinese Rhesus Macaques.bioRxiv : the preprint server for biology · 2024Article
- Consanguineous Marriage and Its Association With Genetic Disorders in Saudi Arabia: A Review.Cureus · 2024Review
- Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.Frontiers in genetics · 2024Article
- Mortality, morbidity and educational outcomes in children of consanguineous parents in the Born in Bradford cohort.Wellcome open research · 2024Article
- Review
- The coefficients of inbreeding revealed by ROH study among inbred individuals belonging to each type of the first cousin marriage: A preliminary report from North India.Genes & genomics · 2023Article
71 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
Individuals born of consanguineous union have segments of their genomes that are homozygous as a result of inheriting identical ancestral genomic segments through both parents. One consequence of this is an increased incidence of recessive disease within these sibships. Theoretical calculations predict that 6% (1/16) of the genome of a child of first cousins will be homozygous and that the average homozygous segment will be 20 cM in size. We assessed whether these predictions held true in populations that have preferred consanguineous marriage for many generations. We found that in individuals with a recessive disease whose parents were first cousins, on average, 11% of their genomes were homozygous (n = 38; range 5%-20%), with each individual bearing 20 homozygous segments exceeding 3 cM (n = 38; range of number of homozygous segments 7-32), and that the size of the homozygous segment associated with recessive disease was 26 cM (n = 100; range 5-70 cM). These data imply that prolonged parental inbreeding has led to a background level of homozygosity increased approximately 5% over and above that predicted by simple models of consanguinity. This has important clinical and research implications.
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