Rs1061170

From SNPedia

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. [PMID 16849663]

A haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD. [PMID 17167412]

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 [PMID 16710702]

CFH variant rs1061170 Y402H is strongly associated with both dry and wet AMD [PMID 17306880]

rs1061170(C) alleles are significantly associated with increased susceptibility to early AMD in Taiwan Chinese populations.[PMID 18784628]

Some SNPs in other genes (like C7 and MBL2) may protect individuals with one or two of the rs1061170(C) risk alleles. [PMID 17266113]

[PMID 18682806] 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. [PMID 19000922]

age related macular degeneration [PMID 15870199]

Venter snp
Source	plos
Gene	CFH
allele	T
frequency
sift	TOLERATED
HuRef	1103675303121
Disease Association	Defects in CFH are a cause of suscpetibility to age- related macular degeneration 1 (ARMD1) (MIM:603075). ARMD is the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie the vast majority of cases are currently unknown. However, a number of studies have suggested that both genetic and environmental factors are likely to play a role.

[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain

[PMID 19680273] ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population

[PMID 19692124] Complement Factor H Y402H and C-Reactive Protein Polymorphism and Photodynamic Therapy Response in Age-Related Macular Degeneration

[PMID 19797206] Susceptibility genes and progression in age-related maculopathy - a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)

[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population

[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population