Adolescent idiopathic scoliosis (Kou, 2019)

Scoliosis is a sideways curvature of the spine.

STUDY TITLE: Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese

SUMMARY:Discovery of 14 novel genetic loci associated with adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine.

OVERVIEW: Adolescent idiopathic scoliosis (AIS) is a sideways curvature of the spine (greater than 10 degrees) that appears in children and adolescents ages 10 to 18. AIS is a common disease, affecting 2-3% of adolescents worldwide. In fact, ~30% of individuals with AIS have a family history of scoliosis, suggesting that genetics plays a role in AIS development. To identify genetic regions associated with AIS, this study examined genetic information of 79,211 Japanese individuals. The researchers identified 20 genetic regions significantly associated with AIS, 14 of which are novel. Together, these genetic regions explain ~5% of the heritability of AIS.

DID YOU KNOW? Females are more likely to develop AIS than males. Moreover, females are 8 times more likely to develop worse curvature over time than males. While it is unclear why there is a sex-bias, it is possible that the hormone leptin plays a role. Leptin is involved in telling your brain that you are full after a meal and females have higher leptin levels. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

Adolescent idiopathic scoliosis sample results.

AIS-ASSOCIATED VARIANTS: rs11190870, rs9389985, rs7028900, rs144131194, rs6047716, rs141903557, rs11205303, rs12029076, rs1978060, rs2467146, rs11787412, rs188915802, rs658839, rs2194285, rs160335, rs482012, rs11341092, rs17011903, rs397948882, rs12149832

Adolescent idiopathic scoliosis (Video)
Scoliosis research society

WEEKLY UPDATE: March 16, 2020