Association between the GLP1R A316T Mutation and Adolescent Idiopathic Scoliosis in French Canadian and Italian Cohorts

Author:

Normand Émilie12,Franco Anita3,Parent Stefan45ORCID,Lombardi Giovanni67ORCID,Brayda-Bruno Marco8,Colombini Alessandra9ORCID,Moreau Alain31011,Marcil Valérie12ORCID

Affiliation:

1. Research Center, Sainte-Justine University Hospital Center, Montreal, QC H3T 1C5, Canada

2. Department of Nutrition, Faculty of Medicine, Université de Montréal, Montreal, QC H3T 1A8, Canada

3. Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Research Center, Sainte-Justine University Hospital Center, Montreal, QC H3T 1C5, Canada

4. Department of Surgery, Sainte-Justine University Hospital Center, Montreal, QC H3T 1C5, Canada

5. Department of Surgery, Faculty of Medicine, Université de Montréal, Montreal, QC H3C 3J7, Canada

6. Laboratory of Experimental Biochemistry & Molecular Biology, IRCCS Istituto Ortopedico Galeazzi, 20161 Milan, Italy

7. Department of Athletics, Strength and Conditioning, Poznań University of Physical Education, 61-871 Poznań, Poland

8. Scoliosis Unit, Department of Orthopedics and Traumatology-Spine Surgery III, IRCCS Istituto Ortopedico Galeazzi, 20161 Milan, Italy

9. Orthopaedic Biotechnology Lab, IRCCS Istituto Ortopedico Galeazzi, 20161 Milan, Italy

10. Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Université de Montréal, Montreal, QC H3C 3J7, Canada

11. Department of Stomatology, Faculty of Dentistry, Université de Montréal, Montreal, QC H3A 1J4, Canada

Abstract

Studies have revealed anthropometric discrepancies in girls with adolescent idiopathic scoliosis (AIS) compared to non-scoliotic subjects, such as a higher stature, lower weight, and lower body mass index. While the causes are still unknown, it was proposed that metabolic hormones could play a role in AIS pathophysiology. Our objectives were to evaluate the association of GLP1R A316T polymorphism in AIS susceptibility and to study its relationship with disease severity and progression. We performed a retrospective case–control association study with controls and AIS patients from an Italian and French Canadian cohort. The GLP1R rs10305492 polymorphism was genotyped in 1025 subjects (313 non-scoliotic controls and 712 AIS patients) using a validated TaqMan allelic discrimination assay. Associations were evaluated by odds ratio and 95% confidence intervals. In the AIS group, there was a higher frequency of the variant genotype A/G (4.2% vs. 1.3%, OR = 3.40, p = 0.016) and allele A (2.1% vs. 0.6%, OR = 3.35, p = 0.017) than controls. When the AIS group was stratified for severity (≤40° vs. >40°), progression of the disease (progressor vs. non-progressor), curve type, or body mass index, there was no statistically significant difference in the distribution of the polymorphism. Our results support that the GLP1R A316T polymorphism is associated with a higher risk of developing AIS, but without being associated with disease severity and progression.

Funder

Fondation Yves Cotrel/Institut de France

Fonds de la Recherche du Québec-Santé

Publisher

MDPI AG

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