SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

Albuquerque, David; Manco, Licínio; Loua, Kovana Marcel; Arez, Ana Paula; Trovoada, Maria de Jesus; Relvas, Luís; Millimono, Tamba S.; Rath, Silvia L.; Lopes, Dinora; Nogueira, Fátima; Varandas, Luís; Alvarez, Manuela; Ribeiro, Maria Letı́cia

doi:10.3109/03014460.2010.541496

Cited by 13 publications

(6 citation statements)

References 15 publications

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“…In the present study, the prevalence of ferroportin Q248H mutation was 6% in Rwandan HIV-positive women, which is lower or similar to earlier findings in African studies [26]. Gordeuk [4,8,27].…”

Section: Discussionsupporting

confidence: 87%

Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women

et al. 2012

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The Q248H mutation in the gene SLC40A1 which encodes for the cellular iron exporter ferroportin is relatively common in Africa. This mutation has been associated with resistance to hepcidin and therefore we hypothesized that iron-related parameters and the prevalence of opportunistic infections in HIV might be influenced by the Q248H mutation. We conducted a cross-sectional study among 200 HIV-positive women in the Butare University Teaching Hospital in Rwanda. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to identify the Q248H mutation. Physical examination was carried out and WHO HIV disease stage classification, complete blood count, CD4 count, indirect measures of iron status, serum hepcidin, and C-reactive protein concentrations were determined. The prevalence of ferroportin Q248H mutation was 6%. Subjects with ferroportin Q248H mutation had significantly higher values for serum ferritin (P = 0.001) and significantly lower values for serum hepcidin (P = 0.001) and transferrin (P = 0.01). Among the 12 HIV + Q248H heterozygotes, 8 suffered from at least one opportunistic infection. There was significantly higher prevalence of pulmonary TB (P = 0.01) and Pneumocystis jiroveci pneumonia (P = 0.02) in subjects with ferroportin Q248H mutation. Low hepcidin levels were found in ferroportin Q248H heterozygotes with HIV infection, notwithstanding the absence of anemia and the higher prevalence of some opportunistic infections. Hepcidin seems to be regulated in a different way in Q248H heterozygotes than is known thus far.

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Section: Discussionsupporting

confidence: 87%

Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women

et al. 2012

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“…The frequency of the mutation is much higher compared to populations studied in west and central Africa [16][17][18] but is similar to frequencies reported on populations from southern Africa [12]. This observation may seem to suggest that there is an increase in the frequency of ferroportin Q248H mutation as Bantu populations migrated to the south.…”

Section: Discussionsupporting

confidence: 83%

Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans

Kasvosve

Tshwenyego

Phuthego

et al. 2015

Clinica Chimica Acta

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“…It is a common FPN variant that is present in native Africans and African-American population, but has not been reported in populations of European origin. The prevalence of FPN Q248H allele ranges from 2.2% to 13.4% [51,52,[67][68][69][70].…”

Section: Mutations Associated With Gain-in-export Function (Resistancmentioning

confidence: 99%

Effect of ferroportin polymorphism on iron homeostasis and infection

Kasvosve

2013

Clinica Chimica Acta

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SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

Abstract: This study confirmed the presence of Q248H mutation at polymorphic frequencies in three native sub-Saharan populations. Analysis of two additional markers in the same gene support a single origin of the mutant allele c.744T in the haplotype background IVS1( - 24)G/(CGG)(7).

Cited by 13 publications

References 15 publications

Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women

Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women

Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans

Effect of ferroportin polymorphism on iron homeostasis and infection

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