Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.
BACKGROUND
Isolated populations are a useful resource for mapping complex traits due to shared stable environment, reduced genetic complexity and extended Linkage Disequilibrium (LD) compared to the general population. Here we describe a large genetic isolate from the North West Apennines, the mountain range that runs through Italy from the North West Alps to the South.


RESULTS
The study involved 1,803 people living in 7 villages of the upper Borbera Valley. For this large population cohort, data from genealogy reconstruction, medical questionnaires, blood, anthropometric and bone status QUS parameters were evaluated. Demographic and epidemiological analyses indicated a substantial genetic component contributing to each trait variation as well as overlapping genetic determinants and family clustering for some traits.


CONCLUSIONS
The data provide evidence for significant heritability of medical relevant traits that will be important in mapping quantitative traits. We suggest that this population isolate is suitable to identify rare variants associated with complex phenotypes that may be difficult to study in larger but more heterogeneous populations.
Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano Italy.
Michela
M
Traglia
Cinzia
C
Sala
Corrado
C
Masciullo
Valeria
V
Cverhova
Francesca
F
Lori
Giorgio
G
Pistis
Silvia
S
Bione
Paolo
P
Gasparini
Sheila
S
Ulivi
Marina
M
Ciullo
Teresa
T
Nutile
Emanuele
E
Bosi
Marcella
M
Sirtori
Giovanna
G
Mignogna
Alessandro
A
Rubinacci
Iwan
I
Buetti
Clara
C
Camaschella
Enrico
E
Petretto
Daniela
D
Toniolo
D002874:Chromosome Mapping; D016000:Cluster Analysis; D015331:Cohort Studies; D003710:Demography; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D005843:Geography; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D010641:Phenotype; D044382:Population Groups / Q000235:genetics