Genetic history of the population of Crete

Drineas, Petros; Tsetsos, Fotis; Plantinga, Anna; Lazaridis, Iosif; Yannaki, Evangelia; Razou, Anna; Kanaki, Katerina; Michalodimitrakis, Manolis; Pérez-Jiménez, Francisco; Silvestro, Giustina De; Renda, Maria Concetta; Stamatoyannopoulos, J; Kídd, Kenneth K.; Browning, Brian L.; Paschou, Peristera; Stamatoyannopoulos, George

doi:10.1111/ahg.12328

Cited by 3 publications

(3 citation statements)

References 40 publications

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“…There was an increased concentration of children with CMP in the central-western rural mountain regions of the island, with the highest incidence of pediatric CMPs in all years of the study (incidence 3.2 per 100,000/years vs. 1.59 per 100,000/year). A similar interesting distribution of genotypes in an east-west direction among native Cretans has been previously described, possibly reflecting the diverse patterns of island colonization in the past from different Mediterranean regions [18].…”

Section: Discussionsupporting

confidence: 78%

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

Bagkaki,

Parthenakis,

Chlouverakis

et al. 2024

Children

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Background. Our knowledge regarding the epidemiology of pediatric cardiomyopathy is based on large national population studies reporting an annual incidence of 1 case per 100,000 children, with a higher incidence observed in infancy and among selected populations. The aim here is to document the epidemiology of pediatric cardiomyopathy in a Mediterranean population. Methods. Children younger than 18 years of age living on the Mediterranean island of Crete, Greece, who have been evaluated since the establishment of tertiary pediatric cardiology services (2002–2022) were included in this retrospective study. Results. A total of 40 children were included, corresponding to an average annual incidence of pediatric cardiomyopathy of 1.59 cases (95% CI: 1.4–2.3) and a prevalence of 26 cases per 100,000 children. In decreasing order of frequency, most cases corresponded to dilated (50%), followed by hypertrophic (42.5%), arrhythmogenic (5%), and restrictive (2.5%) cardiomyopathy. An etiology was identified in 40%, including a genetic diagnosis in 22.5%. Conclusions. The incidence of pediatric cardiomyopathy in the Mediterranean island of Crete is higher compared with that reported previously for other Caucasian populations. Further study is needed to investigate the exact prevalence and specific genetic factors associated with the epidemiology of pediatric cardiomyopathy in Mediterranean populations.

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Section: Discussionsupporting

confidence: 78%

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

Bagkaki,

Parthenakis,

Chlouverakis

et al. 2024

Children

View full text Add to dashboard Cite

show abstract

“…Τhere was an increased concentration of children with CMP in the central-western rural, mountain regions of the island with the highest incidence of pediatric CMPs all years of the study (incidence 3,2 per 100000/years vs 1,59 per 100000/year). A similar interesting distribution of genotypes in an east -west direction among native Cretans has been previously described, possibly reflecting diverse patterns of island colonization in the past from different Mediterranean regions [18].…”

Section: Discussionsupporting

confidence: 77%

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

Bagkaki,

Parthenakis,

Chlouverakis

et al. 2024

Preprint

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Background. Our knowledge regarding the epidemiology of pediatric cardiomyopathy is based on large national population studies reporting an annual incidence of 1 case per 100 000 children with a higher incidence observed in infancy and among selected populations. The aim is to document the epidemiology of pediatric cardiomyopathy in a Mediterranean population. Methods. Children younger than 18 years of age, living on the Mediterranean island of Crete, Greece and evaluated during 20 years since the establishment of tertiary pediatric cardiology services (2002-2022) were included in this retrospective study. Results. A total of 40 children were included, corresponding to an average annual incidence of pediatric cardiomyopathy of 1.59 cases (95% CI: 1.4-2,3) and a prevalence of 26 cases per 100.000 children. In decreasing order of frequency most cases corresponded to dilated cardiomyopathy (50%) followed by hypertrophic (42.5%), arrhythmogenic (5%) and restrictive (2.5%). An etiology was identified in 40%, including a genetic diagnosis in 22.5%. Conclusion. The incidence of pediatric cardiomyopathy in the Mediterranean island of Crete is higher compared with that reported previously for other Caucasian populations. Further study is needed to investigate the exact prevalence and specific genetic factors associated with the epidemiology of pediatric cardiomyopathy in Mediterranean populations.

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“…One could hypothesize that a single founder accounts for almost all p.Val50Met TTR variant cases found on the island or at least for the cases originating in the 3 nearby villages in the Messara valley ( Figure 1 ). Given that Crete is at the crossroads of the Mediterranean and has been occupied by foreign nation armies during the last 12 centuries, 25 it is possible that the p.Val50Met TTR variant founder originated from outside Crete. In this regard, it has been shown that patients with the p.Val50Met variant in Brazil and Japan, but not in Sweden, are probably descendants of Portuguese founders that spread the variant following the commercial routes of the 15th and the 16th century.…”

Section: Discussionmentioning

confidence: 99%

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete

et al. 2022

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Background and ObjectivesOur goal was to study hereditary transthyretin-related amyloidosis (hATTR) in Crete, Greece.MethodsWe aimed at ascertaining all hATTR cases in Crete, an island of 0.62 million people. For this, we evaluated patients with polyneuropathy, autonomic involvement, cardiomyopathy, and/or ophthalmopathy suggestive of hATTR, who presented to the physicians of this study or were referred to them by other physicians. Genetic analyses were performed on all patients suspected of suffering from hATTR. We included in our observational longitudinal cohort study all individuals, residents of Crete, who, during the study period (1993–2019), were found to carry a pathogenic TTR variant.ResultsOver the past 27 years, 30 individuals (15 female patients, 15 male patients), from 12 apparently unrelated families, were diagnosed with hATTR, whereas evaluation of their offspring identified 5 asymptomatic TTR pathogenic variant carriers. The most prevalent TTR variant detected was p.Val50Met, affecting 19 patients (11 female patients, 8 male patients) and causing a rather consistent phenotype characterized by predominant polyneuropathy of early adult onset (median age of symptom onset: 30 years; range: 18–37 years). Specifically, patients affected by the p.Val50Met TTR variant experienced progressive sensorimotor disturbances, involving mainly the lower extremities, associated with autonomic and/or gastrointestinal dysfunction. The second most frequent TTR variant was p.Val114Ala, found in 10 patients (4 female patients, 6 male patients) who were affected at an older age (median age of symptom onset: 70 years; range: 54–78 years). This variant caused a predominantly cardiomyopathic phenotype, manifested by congestive heart failure and associated with peripheral neuropathy, carpal tunnel syndrome, and/or autonomic involvement. In these patients, cardiac amyloid deposition was detected on 99m-technetium pyrophosphate scintigraphy and/or heart biopsy. The third TTR variant (p.Arg54Gly) was found in a 50-year-old male patient with ophthalmopathy due to vitreous opacities and positive family history for visual loss. As 22 patients were alive at the end of the study, we calculated the hATTR prevalence in Crete to be 35 cases per 1 million inhabitants.DiscussionOur study revealed that the prevalence of hATTR in Crete is one of the world's highest. Three different pathogenic TTR variants causing distinct clinical phenotypes were identified in this relatively small population pool.

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Genetic history of the population of Crete

Cited by 3 publications

References 40 publications

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete

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