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According to a new study, scoliosis, a curvature of the spine, may be linked to the body's inability to utilize manganese. In this exome-wide association study of 457 severe adolescent idiopathic scoliosis (AIS) cases and 987 controls, they observed “a missense SNP in SLC39A8 (p.Ala391Thr, rs13107325) associated with severe AIS (P = 1.60 × 10−7, OR = 2.01, CI = 1.54–2.62).”
Previously, this particular SNP has been associated with BMI, blood pressure, cholesterol, and blood manganese level. In this study, they noted “the minor allele of rs13107325 is associated with greater spinal curvature, decreased height, increased BMI and lower plasma manganese in their AIS cohort.”
AIS is not well understood, and recent genome-wide association studies have helped to identify genetic markers. “Because a previous genome-wide association had identified the minor allele of rs13107325 as being associated with reduced blood Mn2+ levels,[1] we obtained plasma Mn2+ and Fe2 + levels from a subset of our AIS cohort. Heterozygous carriers of rs13107325 had significantly lower plasma Mn2+ levels compared to non-carriers (P = 0.01, t-test), but there was no difference in plasma Fe2+ levels (P = 0.84, t-test) as expected.”
“A highly significant association between a coding variant in the manganese transporter SLC39A8 and risk of adolescent idiopathic scoliosis [was identified], [and the] association was replicated in a second independent cohort of AIS patients and controls.” SNP rs13107235 is arguably one of the most highly pleiotropic variants in the human genome.[2]
Although manganese deficiency is rare, it can cause growth impairment and skeletal abnormalities[3] because it acts as a preferred cofactor for multiple enzymes involved in the development of cartilage and bone.[4] Future studies are needed to determine whether manganese supplementation may be a therapeutic option in individuals at risk for scoliosis, but the results are promising.
[1] Ng, E. et al. Genome-wide association study of toxic metals and trace elements reveals novel associations. Hum. Mol. Genet. 2015 24:4739–4745.
[2] Pickrell, J. K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 2016 48:709–717.
[3] Keen, C. L., Zidenberg-Cherr, S. Present Knowledge in Nutrition 7th edn. (ILSI Press, Washington, DC, 1996).
[4] Breton C, Snajdrova L, Jeanneau C, Koca J, Imberty A. Structures and mechanisms of glycosyltransferases. Glycobiology. 2006 16:29R–37R.
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