Genetic structure of the Greek gypsies

Bartsocas, C. S.; Karayanni, C.; Tsipouras, Petros; Baibas, E.; Bouloukos, A; Papadatos, C.

doi:10.1111/j.1399-0004.1979.tb02022.x

Cited by 10 publications

(5 citation statements)

References 13 publications

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“…Low or zero incidence of CF and CAH, and a contrasting high incidence of MCADD, SCADD, and CUD in the Slovak Roma population are both similar to California's findings in newborns from the Middle East and India [6]. Namely these regions are the provenance of the European Roma population [14,15].…”

Section: Discussionsupporting

confidence: 77%

“…Despite, the relation of significantly higher incidence of sudden infant death (SID [11]), which may be related to some IEMs [12,13], this has not yet been analyzed. Recent studies of the Roma population in Central Europe also point to differences in the Roma population in Slovakia in comparison to Roma populations of neighboring countries [14,15]. The Slovak Republic (SK), with its location in the center of Europe and five-million inhabitants, has a relatively homogeneous population of predominantly Caucasian ethnicity.…”

Section: Discussionmentioning

confidence: 99%

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The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

Dluholucký

Knapková²

2017

IJNS

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Abstract:The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations. A follow-up of ethnicity has been introduced in newborn screening for cystic fibrosis (NSCF) and afterwards to the entire ENS program comprising of 23 inborn errors of metabolism (IEM). In 2013-2015, a total of 165,648 newborns were investigated in ENS, 23,321 of them (14%) were the R ethnic group, a total of 313 positive cases were discovered (total ENS prevalence = 1:529, M = 1:758, R = 1:198). In the R ethnic group, there was a slightly higher prevalence of congenital hypothyroidism (CH), only one case of CF, and no cases of congenital adrenal hyperplasia (CAH) in the R ethnic group. The ENS prevalence of IEM detected by MS/MS was significantly higher in the R ethnic group than in M group (M = 1:1670 vs. R = 1:234, OR:7.13). Significant differences in the prevalence of individual types of IEM were also found. While PKU and other aminoaciduria and organic acidurias dominate in the M group, the fatty acid oxidation disorders (MCAD, SCAD) and carnitine defects (CUD) were more frequent in the R newborn group. Despite the preliminary nature of the results, an ethnic approach to ENS enables the recording of the ethnic differences in the screen prevalence of individual disorders, which would not be apparent without this approach.

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Section: Discussionsupporting

confidence: 77%

Section: Discussionmentioning

confidence: 99%

The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

Dluholucký

Knapková²

2017

IJNS

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“…studied the genetic structure of Greek Romani and concluded that there is no evidence of hereditary diseases except color blindness. However, the family history in this study revealed relatives with SW 21-OHD ( 17 ). Furthermore, some genetic diseases, such as inborn errors of metabolism (phenylketonuria, galactosemia, medium-chain and short-chain acyl-CoA dehydrogenase deficiency, and carnitine uptake defect), autosomal dominant polycystic kidney disease, and primary congenital glaucoma, have been shown to be more common in Romani compared with the other populations, in part due to increased use of molecular genetic diagnostics ( 5 ).…”

Section: Discussioncontrasting

confidence: 58%

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

Dumic,

Grubic,

Kusec

et al. 2023

Front. Endocrinol.

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ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene. After a high prevalence of classic 21-OHD CAH in the Romani population was reported in the Republic of North Macedonia, we decided to estimate the prevalence of 21-OHD in Croatia and, if high, assess the possible causes and estimate the frequency of particular CYP21A2 variants.DesignCross-sectional study.MethodsData from a Croatian 21-OHD genetic database was reviewed, and only Romani patients were included in the study. CYP21A2 genotyping was performed using allele-specific PCR, MLPA, and Sanger sequencing.ResultsAccording to a survey conducted in 2017, Croatia had 22,500 Romani people and six of them had a salt-wasting (SW) form of 21-OHD. All were homozygous for the c.IVS2-13A/C-G pathological variant in intron 2 and descended from consanguineous families belonging to different Romani tribes. The calculated prevalence of 21-OHD in Croatian Romani is 1:3,750, while in the Croatian general population, it is 1:18,000. Three of the six Romani patients originated from two neighboring villages in North-western Croatia (Slavonia County), as well as the seventh patient who is of mixed Romani/Croatian descent and heterozygous for the c.IVS2-13A/C-G pathological variant (not included in the prevalence calculation).ConclusionA high prevalence of SW 21-OHD in the Croatian Romani population caused by the homozygous cIVS2-13A/C-G pathological variant was found. In addition to isolation and consanguinity, other possible reasons could be the heterozygous advantage of the CYP21A2 gene pathological variant and the bottleneck effect as a result of the Romani Holocaust in World War II.

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“…41 Previously published work on polymorphic genetic markers in Greek Roma people has shown that the ABO, MN, Rhesus and Duffy blood system frequencies vary from those obtained in non-Roma Greeks. 42 This finding could be possibly explained by the fact that marriages with non-Gypsy people are extremely rare and there is a high rate of consanguinity. 43 Multilocus re-analysis of several marker systems reported in studies of European Gypsies has revealed that they are genetically closer to Indians than to other Europeans.…”

Section: Discussionmentioning

confidence: 99%

Spirometric values in Gypsy (Roma) children

Kaditis

Gourgoulianis

Tsoutsou

et al. 2008

Respiratory Medicine

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Values of spirometry indices vary among subjects of similar age, gender and somatometrics but of different ethnic origins. Low socioeconomic status in childhood is inversely related to lung growth. The aim of this investigation was to assess spirometry values in Gypsy children and compare them to reported values for Caucasians. Gypsy students attending primary schools in Central Greece were recruited. Spirometry indices were measured using a portable spirometer. Regression analysis was applied to construct prediction equations for forced vital capacity (FVC) and other spirometric indices (FEV(1), FEF(50), FEF(25), FEF(25-75)) based on standing height. Predicted spirometric values were compared to values for Caucasians from published studies. In 152 children (ages 5-14 years; 57 girls) lung function increased linearly with height: spirometry index=intercept+[slopexheight], (r(2)=0.68 for FVC and FEV(1) in girls; r(2)=0.78 for FVC and r(2)=0.74 for FEV(1) in boys). Excluding boys-but not girls-in puberty increased fit for FVC (r(2)=0.83) and FEV(1) (r(2)=0.79). Mean predicted values were 5-10% lower than values for Caucasians. In Gypsy children, FVC and expiratory flow function increase linearly with standing height and predicted values are lower than those for Caucasians of similar height.

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Genetic structure of the Greek gypsies

Cited by 10 publications

References 13 publications

The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

Spirometric values in Gypsy (Roma) children

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