Studies of novel variants associated with Hb F in Sardinians and Tanzanians in sickle cell disease patients from Cameroon.
High level of Hb F has been shown to improve survival in sickle cell disease. Among 453 Cameroonians with sickle cell disease, we have investigated 18 selected single-nucleotide polymorphisms (SNPs) in novel and suggestive loci associated with Hb F level identified through a genomewide association study in sickle cell disease patients in Tanzania, and whole-genome sequencing of a population from Sardinia. Seven of 10 variants reported in Sardinians were either monomorphic or very rare in the Cameroonians. No associations were observed with any SNPs and Hb F levels in Cameroonians affected by sickle cell disease. The present study illustrates the complexity of replicating Hb F-promoting variants association results across populations.
a Division of Human Genetics, Department of Pathology, Faculty of Health Sciences , University of Cape Town , Cape Town , South Africa.
Gift D
GD
Pule
b Department of Microbiology, Hematology, Parasitology et de Infectious Pathologies, Faculty of Medicine and Biomedical Sciences , University of Yaoundé , Cameroon.
Valentina J
VJ
Ngo Bitoungui
b Department of Microbiology, Hematology, Parasitology et de Infectious Pathologies, Faculty of Medicine and Biomedical Sciences , University of Yaoundé , Cameroon.
Bernard
B
Chetcha Chemegni
c Non-Communicable Diseases Research Unit, South African Medical Research Council , Cape Town , South Africa.
Andre P
AP
Kengne
a Division of Human Genetics, Department of Pathology, Faculty of Health Sciences , University of Cape Town , Cape Town , South Africa.
Ambroise
A
Wonkam
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D002163:Cameroon / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis* / Q000235:genetics; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013636:Tanzania / Q000453:epidemiology; D055815:Young Adult
D005319:Fetal Hemoglobin
Cameroon; Hb F; Sardinia; Tanzania; sickle cell disease