Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus

In Cyprus, no data are yet available on the frequencies of clinically diagnosed FH patients. Further, until now, familial hypercholesterolaemia in Cyprus had not been studied at the molecular level to determine the nature or frequency of LDLR gene mutations. Being a relatively homogeneous population...

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Bibliographic Details
Published in:Human mutation 2000-04, Vol.15 (4), p.380-380
Main Authors: Xenophontos, Stavroulla L., Pierides, Alkis, Demetriou, Kyproulla, Avraamides, Panicos, Manoli, Panayiotis, Ayrton, Nafsika, Skordis, Nicos, Anastasiadou, Violetta, Miltiadous, George, Cariolou, Marios A.
Format: Article
Language:English
Subjects:
Adolescent
Adult
atherosclerosis
Child
Child, Preschool
Cyprus - epidemiology
familial hypercholesterolaemia
Female
Genetic Markers
Greek Cypriot
Humans
LDLR
Male
Mutation, Missense - genetics
Receptors, LDL - blood
Receptors, LDL - genetics
xanthomata
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Summary:In Cyprus, no data are yet available on the frequencies of clinically diagnosed FH patients. Further, until now, familial hypercholesterolaemia in Cyprus had not been studied at the molecular level to determine the nature or frequency of LDLR gene mutations. Being a relatively homogeneous population, we anticipated that a few founder mutations would predominate on the island. In the present study, three previously identified LDLR gene mutations were found to cosegregate with high LDL cholesterol levels in 23 unrelated, clinically diagnosed families with FH. Geographical clustering of each of these LDLR gene mutations was indicated, a phenomenon arising from low migration rates and high inbreeding. The latter cultural practices account for the discovery of a homozygous FH sib pair whose parents are carriers of the same mutation. Microsatellite and intragenic haplotype analysis in this FH population, suggested that the families which shared the same LDLR gene mutation have a common origin. This is supported by their relative geographical distribution. Thirty young FH individuals were also offered presymptomatic diagnosis which should facilitate the prevention of premature coronary artery disease. Finally, results from this study support the suggestion that the formation of tendon xanthomata in FH patients may be under environmental influence. Hum Mutat 15:380, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU11>3.0.CO;2-T