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.
Traglia
Michela
M
Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano Italy.
Sala
Cinzia
C
Masciullo
Corrado
C
Cverhova
Valeria
V
Lori
Francesca
F
Pistis
Giorgio
G
Bione
Silvia
S
Gasparini
Paolo
P
Ulivi
Sheila
S
Ciullo
Marina
M
Nutile
Teresa
T
Bosi
Emanuele
E
Sirtori
Marcella
M
Mignogna
Giovanna
G
Rubinacci
Alessandro
A
Buetti
Iwan
I
Camaschella
Clara
C
Petretto
Enrico
E
Toniolo
Daniela
D
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