Lumbar disc disease
Lumbar disc disease (LDD) is one of the causes of lower back pain, accounting for perhaps 1/3rd of back problems (according to Wikipedia).
Several studies have found genetic predispositions for LDD, often in collagen genes. The SNPs identified to date include:
- rs2073711, a SNP in the CILP gene
- rs1676486, a SNP in the COLL11A1 gene
- A SNP known as Arg103Trp (or the Trp3 allele) in the COL9A3 gene, giving rise to an odds ratio of 2.7 (p=0.000013); this SNP needs an rs# to be assigned to it by dbSNP. It's position is 27 nucleotides before rs35908728, at the () position in GGTGCCCCTGGGGAA(C/T)GGGT (opposite strand sequenced), with the risk allele being (T) [PMID 11308397]