SNPs Involved in Manganese Deficiency

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.”