Izvorni znanstveni članak
Historic, Demographic, and Genetic Evidence for Increased Population Frequencies of CCR5Δ32 Mutation in Croatian Island Isolates after Lethal 15th Century Epidemics
Zrinka Biloglav
; Andrija Štampar School of Public Health, School of Medicine, University of Zagreb, Croatia
Lina Zgaga
; Andrija Štampar School of Public Health, School of Medicine, University of Zagreb, Croatia
Mladen Smoljanović
; School of Medicine, University of Split, Croatia
Caroline Hayward
; Human Genetics Unit, Western General Hospital, Edinburg, UK
Ozren Polašek
; Andrija Štampar School of Public Health, School of Medicine, University of Zagreb, Croatia
Ivana Kolčić
; Andrija Štampar School of Public Health, School of Medicine, University of Zagreb, Croatia
Veronique Vitart
; Human Genetics Unit, Western General Hospital, Edinburg, UK
Tatijana Zemunik
; School of Medicine, University of Split, Croatia
Vesna Boraska
; School of Medicine, University of Split, Croatia
Vesela Torlak
; University of Split Hospital Center, Split, Croatia
Rosanda Mulić
; University of Split Hospital Center, Split, Croatia
Darko Ropac
; University of Split Hospital Center, Split, Croatia
Ivica Grković
; University of Split Hospital Center, Split, Croatia
Diana Rudan
; ''Dubrava'' University Hospital, Zagreb, Croatia
Smiljana Ristić
; School of Medicine, University of Rijeka, Croatia
Maja Barbalić
; Institute of Anthropological Research, Zagreb, Croatia
Harry Campbell
; Institute of Anthropological Research, Zagreb, Croatia
Alan F. Wright
; Human Genetics Unit, Western General Hospital, Edinburg, UK
Igor Rudan
; Croatian Centre for Global Health, School of Medicine, University of Split, Croatia
Sažetak
Aim To assess the frequency of 32 base pair deletion in
CCR5 (CCR5Δ32), which has been shown to confer resistance
to HIV infection in a homozygous form, in 10 isolated
island communities of Dalmatia, Croatia, with different histories
of exposure to epidemics during and since the medieval
period.
Methods In 2002, DNA analysis of 100 randomly selected
individuals from each of the 10 isolated communities of 5
Croatian islands (Susak, Rab, Vis, Lastovo, and Mljet) showed
high levels of 3-generational endogamy, indicating limited
gene flow. Five of the communities were decimated by epidemics
of unknown cause between 1449-1456, while the
other 5 villages remained unaffected. Genotyping of the
CCR5 gene was performed using the polymerase chain reaction
method with primers flanking the region containing
32-bp deletion.
Results The frequency of CCR5Δ32 in the 5 villages affected
by the epidemic was 6.1-10.0%, and 1.0-3.8% in the
5 unaffected villages. The Δ32 mutation was found in 71
of 916 alleles among the individuals from the affected villages
(7.5%), and in 24 of 968 alleles in unaffected villages
(2.5%, χ2 = 27.3, P < 10−6). A previous study in 303 random
Croatian blood donors showed the frequency of the CCR5
Δ32 of 7.1% in the general population. The difference remained
significant after correcting for population structure
using both STRAT and STRUCTURE software and the
genomic control test, to ensure results do not arise from
the background genetic differences.
Conclusion Our results and historical evidence, suggest
that the mid-15th century epidemic could have acted as a
selection pressure for the CCR5Δ32 mutation.
Ključne riječi
demography; population genetics; CCR5Δ32; selection; epidemic; isolated populations, Croatia
Hrčak ID:
38305
URI
Datum izdavanja:
15.2.2009.
Posjeta: 1.143 *