Fine mapping implicates a deletion of CFHR1 and CFHR3 in protection from IgA nephropathy in Han Chinese
J Xie, K Kiryluk, Y Li, N Mladkova, L Zhu… - Journal of the …, 2016 - journals.lww.com
An intronic variant at the complement factor H (CFH) gene on chromosome 1q32
(rs6677604) associates with risk of IgA nephropathy (IgAN), but the association signal has
not been uniformly replicated in Han Chinese populations. We investigated whether the
causal sequence variant resides in the CFH gene or the neighboring complement factor H–
related 1 (CFHR1) gene and CFHR3, which harbor an 84-kb combined deletion (CFHR3,
1Δ) in linkage disequilibrium with rs6677604. Imputation of 1000 Genomes Project data did …
(rs6677604) associates with risk of IgA nephropathy (IgAN), but the association signal has
not been uniformly replicated in Han Chinese populations. We investigated whether the
causal sequence variant resides in the CFH gene or the neighboring complement factor H–
related 1 (CFHR1) gene and CFHR3, which harbor an 84-kb combined deletion (CFHR3,
1Δ) in linkage disequilibrium with rs6677604. Imputation of 1000 Genomes Project data did …