rs11568350
|
|
Iron Overload
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although OR estimates of iron overload in African-Americans and Native Africans with Q248H were greater than unity, the increased OR were not statistically significant.
|
17490902 |
2007 |
rs11568350
|
|
Iron Overload
|
|
0.020 |
GeneticVariation
|
BEFREE |
We also found heterozygosity for the Q248H mutation in 7 of 51 (14%) southern African community control participants selected because they had a serum ferritin concentration below 400 microg/L and in 5 of 100 (5%) anonymous African-Americans, but we did not find the change in 300 Caucasians with normal iron status and 25 Caucasians with non-HFE iron overload.
|
14636642 |
2004 |
rs11568350
|
|
Human herpesvirus 8 infection
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast to these findings, ferroportin Q248H mutation (rs11568350) did not influence the susceptibility for an HHV-8 infection in sub-Saharan Africans.
|
27461879 |
2016 |
rs11568350
|
|
Pneumocystis jiroveci pneumonia
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was significantly higher prevalence of pulmonary TB (P = 0.01) and Pneumocystis jiroveci pneumonia (P = 0.02) in subjects with ferroportin Q248H mutation.
|
22249207 |
2012 |
rs11568350
|
|
Tuberculosis, Pulmonary
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was significantly higher prevalence of pulmonary TB (P = 0.01) and Pneumocystis jiroveci pneumonia (P = 0.02) in subjects with ferroportin Q248H mutation.
|
22249207 |
2012 |
rs11568350
|
|
Opportunistic Infections
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
22249207 |
2012 |
rs11568350
|
|
HIV Infections
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
22249207 |
2012 |
rs11568350
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
17276706 |
2007 |
rs11568350
|
|
Hemochromatosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
17276706 |
2007 |
rs11568350
|
|
Anemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We conclude that the Q248H mutation is a common polymorphism in the ferroportin 1 gene in African populations that may be associated with mild anemia and a tendency to iron loading.
|
14636642 |
2004 |