Complement component 3 mutations alter the longitudinal risk of pediatric malaria and severe malarial anemia.

ABSTRACT: Severe malarial anemia (SMA) is a leading cause of childhood morbidity and mortality in holoendemic Plasmodium falciparum transmission regions. To gain enhanced understanding of predisposing factors for SMA, we explored the relationship between complement component 3 (C3) missense mutations [rs2230199 (2307C>G, Arg>Gly¹⁰²) and rs11569534 (34420G>A, Gly>Asp¹²²⁴)], malaria, and SMA in a cohort of children (n = 1617 children) over 36 months of follow-up. Variants were selected based on their ability to impart amino acid substitutions that can alter the structure and function of C3. The 2307C>G mutation results in a basic to a polar residue change (Arg to Gly) at position 102 (β-chain) in the macroglobulin-1 (MG1) domain, while 34420G>A elicits a polar to acidic re

SUBMITTER: Raballah E 

PROVIDER: S-EPMC9039490 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature