|| 93% reduction in malarial risk
|| 29% reduction in malarial risk
|| common in clinvar
is a relatively rare SNP found in the beta hemoglobin HBB
gene, adjacent to the well-known SNP associated with malarial resistance (rs334
). This SNP gives rise to the "Hb C", or hemoglobin C, form of hemoglobin as the HBB forms are commonly named. It is found primarily in a subset of West Africa.
rs33930165 is associated with increased malarial resistance, yet without giving rise to sickle cell anemia. A study of 4,000+ individuals in Burkina Faso found that rs33930165(A;G) heterozygotes had a 29% reduction in risk of clinical malaria (p = 0.0008), and rs33930165(C;C) homozygotes had a 93% reduction (p = 0.0011).[PMID 11713529]
] Evidence for epistasis between hemoglobin C and immune genes in human P. falciparum malaria: a family study in Burkina Faso
[PMID 6129204] Hemoglobin Machida [beta 6 (A3) Glu replaced by Gln], a new abnormal hemoglobin discovered in a Japanese family: structure, function and biosynthesis.