Naslov
Prevalence and genotype of 21-hydroxylase deficiency in Croatian Romani population

Autori
Dumić, Katja ; Grubic, Zorana ; Kušec, Vesna ; Braovac, Duje ; Gotovac, Kristina ; Vinkovic, Maja ; Vučinić, Maja ; Dumić, Miroslav

Izvornik
Frontiers in endocrinology (Lausanne) (1664-2392) XX (2023), XX; 1170449, 6

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
congenital adrenal hyperplasia ; founder mutation ; Romani tribes ; consanguinity ; CYP21A2 heterozygous advantage ; Romani Holocaust ; bottle neck effect
(CYP21A2 heterozygous advantage, Romani Holocaust, bottle neck effect)

Sažetak
Objective: Congenital 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. Design: Cross-sectional study. Methods: Data 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. Results: According 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). Conclusion: A 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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje)

POVEZANOST RADA