||1.4x increased risk for ALS
||1.2x increased risk for ALS
|?|| (A;A) (A;G) (G;G) ||28|
rs3849942 is one of 2 SNPs from the ch 9p21.2 region associated in a large GWAS study with ALS risk, the other SNP being rs2814707. In this study, the reported odds ratio for rs3849942(A) was 1.22 (CI: 1.15 - 1.30, p = 4.64 x 10e-10).[PMID 20801717]
The odds ratio for the minor rs3849942(A) allele was 1.15 (p=1.01x10e-8).[PMID 19734901]
From a study of 405 Finnish patients with ALS, rs3849942 was found within a 42 SNP haplotype associated with highly increased (p = 7 x 10e-33) risk when patients with familial ALS were compared to controls (odds ratio of 21.0, CI: 11.2-39.1). This haplotype overlapped with a region reported (by others) to associate with risk for frontotemporal dementia. In terms of population attributable risk, for the 93 patients with familial ALS, this 9p21 locus accounts for 38% and that of rs13048019 (on ch 21q22) for 25%.[PMID 20801718]
[PMID 20423481] Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study.
[PMID 22875086] C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
[PMID 23587638] Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.