ArticleBMC medical genetics2001
Genetic studies of the Roma (Gypsies): a review.
Article in BMC medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 163 citations in OpenAlex.
- Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.European journal of human genetics : EJHG · 2019Trial
- Rare Genetic Diseases with Founder Effect in Roma Children.Life (Basel, Switzerland) · 2026Article
- Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.International journal of molecular sciences · 2026Article
- High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.Biomedicines · 2025Article
- Diagnostic Yield of Next-Generation Sequencing for Rare Pediatric Genetic Disorders: A Single-Center Experience.Medical sciences (Basel, Switzerland) · 2025Article
- The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula.Human genetics · 2025Article
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
- An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy.Muscles (Basel, Switzerland) · 2023Review
- A founderFrontiers in medicine · 2023Article
- Risk behaviors and well-being among Egyptian and Roma adolescents in Albania during the COVID-19 pandemic: Vulnerability and resilience in a positive youth development perspective.Frontiers in psychology · 2023Article
- The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.Frontiers in endocrinology · 2023Article
- Review
- Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks.Scientific reports · 2022Article
- Article
- Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.Frontiers in genetics · 2021Article
- The shaping of immunological responses through natural selection after the Roma Diaspora.Scientific reports · 2020Article
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.Orphanet journal of rare diseases · 2020Article
- The Roma Population Living in Segregated Settlements in Eastern Slovakia Has a Higher Prevalence of Metabolic Syndrome, Kidney Disease, Viral Hepatitis B and E, and Some Parasitic Diseases Compared to the Majority Population.International journal of environmental research and public health · 2020Article
- Taste and Food Preferences of the Hungarian Roma Population.Frontiers in public health · 2020Article
- NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.Annals of clinical and translational neurology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundData provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies.
resultsRecent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups.
conclusionAlthough far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5-15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.