Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

Ohashi, Jun; Naka, Izumi; Patarapotikul, Jintana; Hananantachai, Hathairad; Brittenham, Gary M.; Clark, Andrew G.; Tokunaga, Katsushi

doi:10.1007/s10038-004-0210-z

Cited by 5 publications

(4 citation statements)

References 24 publications

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“…However, the E allele found in China is on the same haplotype as that found in Thailand (Ohashi et al, 2005), suggesting that it does not have a different origin. From forward simulations, which used the amount of linkage disequilibrium close to the variant and the observed allele frequency, the age of the E allele was estimated to be about 100.3 generations (Ohashi et al, 2004), or 2508 years, and the estimated selection coefficient between genotypes AA and AE was 0.079.…”

Section: E or B E Or Hbementioning

confidence: 71%

Population genetics of malaria resistance in humans

2011

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Section: E or B E Or Hbementioning

confidence: 71%

Population genetics of malaria resistance in humans

2011

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“…The allele age was estimated to be 2,810 years and a selection coefficient of 0.06. More than one mutational origin for the E allele in Thailand is indicated [ 37 ]. On the other hand, the Chinese E allele has the same haplotype as in Thailand [ 38 ], implying the same origin.…”

Section: Strength Of Selectionmentioning

confidence: 99%

Resistance to malaria in humans: the impact of strong, recent selection

Hedrick

2012

Malar J

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Malaria is one of the leading causes of death worldwide and has been suggested as the most potent type of selection in humans in recent millennia. As a result, genes involved in malaria resistance are excellent examples of recent, strong selection. In 1949, Haldane initially suggested that infectious disease could be a strong selective force in human populations. Evidence for the strong selective effect of malaria resistance includes the high frequency of a number of detrimental genetic diseases caused by the pleiotropic effects of these malaria resistance variants, many of which are “loss of function” mutants. Evidence that this selection is recent comes from the genetic dating of the age of a number of these malaria resistant alleles to less than 5,000 years before the present, generally much more recent than other human genetic variants. An approach to estimate selection coefficients from contemporary case–control data is presented. In the situations described here, selection is much greater than 1%, significantly higher than generally observed for other human genetic variation. With these selection coefficients, predictions are generated about the joint change of alleles S and C at the β-globin locus, and for α-thalassaemia haplotypes and S, variants that are unlinked but exhibit epistasis. Population genetics can be used to determine the amount and pattern of selection in the past and predict selection in the future for other malaria resistance variants as they are discovered.

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“…[97]. However, the E allele found in China is on the same haplotype as that found in Thailand [98], suggesting that it does not have a different origin.…”

Section: Hbe and P Falciparum Malariamentioning

confidence: 98%

Inherited Disorders of Hemoglobin and Plasmodium falciparum Malaria

Bougouma¹,

Sirima²

2021

Human Blood Group Systems and Haemoglobinopathies

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An estimated 300,000 babies are born each year with severe Inherited Disorders of Hemoglobin (IDH). Despite major advances in the understanding of the molecular pathology, control, and management of the IDH thousands of infants and children with these diseases are dying due to the accessibility to appropriate medical care. In addition, as malaria has been the principal cause of early mortality in several parts of the world for much of the last 5000 years, as a result, it is the strongest force for selective pressure on the human genome. That is why, in the world, there is an overlap of malaria endemicity and IDH. Over the past twenty years several studies have shown that IDH such us hemoglobin and/or red cell membrane abnormalities confer resistance to malaria reducing hence the mortality during the first years of life. This has led to the selection of populations with IDH in malaria-endemic areas. This may explain the overlap between these two pathologies. This chapter aims to present the relationship between IDH and malaria susceptibility, make an overview of the current state of knowledge and the burden of IDH, and highlight steps that require to be taken urgently to improve the situation.

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Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

Cited by 5 publications

References 24 publications

Population genetics of malaria resistance in humans

Population genetics of malaria resistance in humans

Resistance to malaria in humans: the impact of strong, recent selection

Inherited Disorders of Hemoglobin and Plasmodium falciparum Malaria

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