TY - JOUR
T1 - Triosephosphate isomerase gene promoter variation
T2 - -5G/A and -8G/A polymorphisms in clinical malaria groups in two African populations
AU - Guerra, Mónica
AU - Machado, Patrícia
AU - Manco, Licínio
AU - Fernandes, Natércia
AU - Miranda, Juliana
AU - Arez, Ana Paula
N1 - PMID: 25801609
WOS:000355027300034
PY - 2015/6/1
Y1 - 2015/6/1
N2 - TPI1 promoter polymorphisms occur in high prevalence in individuals from African origin. Malaria-patients from Angola and Mozambique were screened for the TPI1 gene promoter variants rs1800200A > G, (-5G > A), rs1800201G > A, (-8G > A), rs1800202T > G, (-24T > G), and for the intron 5 polymorphism rs2071069G > A, (2262G > A). -5G > A and -8G > A variants occur in 47% and 53% in Angola and Mozambique, respectively while -24T > G was monomorphic for the wild-type T allele. Six haplotypes were identified and -8A occurred in 45% of the individuals, especially associated with the GAG haplotype and more frequent in non-severe malaria groups, although not significantly. The arising and dispersion of -5G > A and -8G > A polymorphisms is controversial. Their age was estimated by analyses of two microsatellite loci, CD4 and ATN1, adjacent to TPI1 gene. The -5G > A is older than -8G > A, with an average estimate of approximately 35,000. years. The -8A variant arose in two different backgrounds, suggesting independent mutational events. The first, on the -5G background, may have occurred in East Africa around 20,800. years ago; the second, on the -5A background, may have occurred in West Africa some 7500. years ago. These estimates are within the period of spread of agriculture and the malaria mosquito vector in Africa, which could has been a possible reason for the selection of -8A polymorphism in malaria endemic countries.
AB - TPI1 promoter polymorphisms occur in high prevalence in individuals from African origin. Malaria-patients from Angola and Mozambique were screened for the TPI1 gene promoter variants rs1800200A > G, (-5G > A), rs1800201G > A, (-8G > A), rs1800202T > G, (-24T > G), and for the intron 5 polymorphism rs2071069G > A, (2262G > A). -5G > A and -8G > A variants occur in 47% and 53% in Angola and Mozambique, respectively while -24T > G was monomorphic for the wild-type T allele. Six haplotypes were identified and -8A occurred in 45% of the individuals, especially associated with the GAG haplotype and more frequent in non-severe malaria groups, although not significantly. The arising and dispersion of -5G > A and -8G > A polymorphisms is controversial. Their age was estimated by analyses of two microsatellite loci, CD4 and ATN1, adjacent to TPI1 gene. The -5G > A is older than -8G > A, with an average estimate of approximately 35,000. years. The -8A variant arose in two different backgrounds, suggesting independent mutational events. The first, on the -5G background, may have occurred in East Africa around 20,800. years ago; the second, on the -5A background, may have occurred in West Africa some 7500. years ago. These estimates are within the period of spread of agriculture and the malaria mosquito vector in Africa, which could has been a possible reason for the selection of -8A polymorphism in malaria endemic countries.
KW - Human malaria
KW - Selection signatures
KW - TPI1 gene promoter variants
KW - Triosephosphate isomerase-deficiency
UR - http://www.scopus.com/inward/record.url?scp=84926191438&partnerID=8YFLogxK
U2 - 10.1016/j.meegid.2015.03.020
DO - 10.1016/j.meegid.2015.03.020
M3 - Article
C2 - 25801609
AN - SCOPUS:84926191438
SN - 1567-1348
VL - 32
SP - 271
EP - 279
JO - Infection, Genetics and Evolution
JF - Infection, Genetics and Evolution
ER -