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Lumbar disc disease

From SNPedia

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]