Rs1061170

rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H).

This SNP has been associated primarily with age related macular degeneration, and to a lesser extent, with longevity.

This research paper shows that CFH Y402H is the relevant mutation.

A haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD.

rs1061170 (aka Y402H 1277 T>C) was not associated with exudative AMD.

CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese

CFH variant rs1061170 Y402H is strongly associated with both dry and wet AMD

rs1061170(C) alleles are significantly associated with increased susceptibility to early AMD in Taiwan Chinese populations.

Some SNPs in other genes (like C7 and MBL2) may protect individuals with one or two of the rs1061170(C) risk alleles.

An analysis of the joint effects of rs1061170, rs11200638 and rs10490924 on AMD

In a 4 year study of longevity of 491 nonagenarians in the Finnish Vitality 90+ study, risk factor-adjusted mortality was significantly higher among the rs1061170(C) carriers compared to non-carriers (odds ratio 1.78, CI 1.19-2.67, p = 0.005), and the survival curves of these carriers and non-carriers deviated significantly (p = 0.016). In other words, in this study, rs1061170(T;T) individuals generally lived longer than (C) allele carriers.

age related macular degeneration