A genomewide linkage analysis implicated this variant in MATN3 as being associated with osteoarthritis. This analysis strongly implicated the MATN3 region; gene sequencing found this and four other exonic SNPs. Follow-up on this SNP in all cases and controls found case var/var: 2, case var/wt: 43, case wt/wt: 2117, cont var/var: 0, cont var/wt: 9, cont wt/wt: 864. This is a p-value of 0.04 — this p-value does not account for multiple hypotheses implicit in the analysis, though.
The authors also mention observing this SNP in a follow-up cohort, along with five others. The variant had an allele frequencing of .017 in 745 cases, .004 in 368 controls. p = 0.01348 for this data — bonferroni correction for six hypotheses makes this equivalent to p-value of 0.08.
The chr2 region had a LOD of 4.97 … when carriers of this variant were removed from analysis, the LOD dropped to 3.80, indicating other variants must in the region that explain some of the variation.
The authors estimate that heterozygous carriers of this variant have a relative risk of 2.1 for hand osteoarthritis.