In a screen for mutations in collagen genes with lumbar disc disease this variant was found to be significantly associated with the disease.
Of 171 patients, 2 were homozygous for this variant and 38 were heterozygous. In 186 healthy controls there were no homozygotes and 15 heterozygotes. Counting alleles, this is case+: 42, case-: 300, control+: 15, control-: 357, and a two-tailed Fisher’s Exact test gives p=0.000048. The authors include some other patients (primary osteoarthritis, rheumatoid arthritis, chondrodysplasias) to get a p-value of 0.000028 with the same statistical test.
The incidence of lumbar disc disease in carriers of this variant is increased 2.7x compared to non-carriers (11.6% vs. 4.3%), an increased attributable risk of 7.3%.