Here we assess the role of parasite genetic variation in host disease
phenotype in human schistosomiasis by implementing concepts and techniques
from environmental association analysis in evolutionary epidemiology.
Schistosomiasis is a tropical disease that affects more than 200 million
people worldwide and is caused by parasitic flatworms belonging to the
genus Schistosoma. While the role of host genetics has been extensively
studied and demonstrated, nothing is yet known on the contribution of
parasite genetic variation to host disease phenotype in human
schistosomiasis. In this study microsatellite genotypes of 1561
Schistosoma mansoni larvae collected from 44 human hosts in Senegal were
linked to host characteristics such as age, gender, infection intensity,
liver and bladder morbidity by means of multivariate regression methods
(on each parasite locus separately). This revealed a highly significant
association between allelic variation at the parasite locus L46951 and
host infection intensity and bladder morbidity. Locus L46951 is located in
the 3’ untranslated region of the cGMP-dependent protein kinase gene that
is expressed in reproductive organs of adult schistosome worms and appears
to be linked to egg production. This putative link between parasite
genetic variation and schistosomiasis disease phenotype sets the stage for
further functional research. Microsatellite genotypes
and host phenotypesThe worksheet
“microsatellite genotypes” contains data from individual parasites (S.
mansoni larvae) collected in Senegal, genotyped with nine microsatellite
loci combined in a single multiplex: L46951, smd25, smd28 and smd89
(Durand et al., 2000); CA11-1 and S9-1 (Blair et al., 2001); smd11, smd43
and sdma28 (Curtis et al., 2001). This dataset represents 1692 parasites
from 63 human hosts with at least five out of the nine loci successfully
amplified. The worksheet “host phenotypes” contains host phenotypic data
from the 63 human hosts. The host variables include gender, village*,
liver morbidity (IP score), bladder morbidity (UBS score), Schistosoma
mansoni infection intensity (epg**), Schistosoma haematobium infection
intensity (ep 10ml**) and circulating anodic antigen (CAA) concentrations
(picogram of CAA per mL). village* : Pakh (code 200), Ndieumeul (code
501), Diokhor Takh (code 502) epg**: number of eggs per gram of faeces;
ep10ml**: number of eggs per 10 ml of urine.