臨床整形外科58巻4号

2023年04月発行

特集 疲労骨折からアスリートを守る—今，おさえておきたい“RED-S”

アスリートにおける疲労骨折の遺伝的リスク

著者： 宮本(三上)恵里¹

所属機関： ¹順天堂大学スポーツ健康科学部

ページ範囲：P.373 - P.378

アスリートにおける疲労骨折の遺伝的リスクに関する研究が，初めて報告されたのは2015年と比較的最近のことである．欧米と日本における2つの大規模なアスリートコホートにより，アスリートの疲労骨折リスクに関与する遺伝子多型が少しずつ明らかとなってきた．今後，ゲノムワイド関連解析などの網羅的な遺伝子解析の導入により，遺伝的背景がアスリートの疲労骨折に与える影響について理解が深まると考えられる．それと同時に，遺伝情報の活用が，実際にアスリートの疲労骨折予防に貢献するのか否か，検証を行っていく必要がある．

参考文献

1) Ralston SH, Uitterlinden AG. Genetics of osteoporosis. Endocr Rev 2010;31(5):629-62.

2) Varley I, Hughes DC, Greeves JP, et al. RANK/RANKL/OPG pathway:genetic associations with stress fracture period prevalence in elite athletes. Bone 2015;71:131-6.

3) Varley I, Greeves JP, Sale C, et al. Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury. Purinergic Signal 2016;12(1):103-13.

4) Varley I, Hughes DC, Greeves JP, et al. The association of novel polymorphisms with stress fracture injury in Elite Athletes:Further insights from the SFEA cohort. J Sci Med Sport 2018;21(6):564-8.

5) Varley I, Hughes DC, Greeves JP, et al. SNPs in the vicinity of P2X7R, RANK/RANKL/OPG and Wnt signalling pathways and their association with bone phenotypes in academy footballers. Bone 2018;108:179-85.

6) Wright AA, Taylor JB, Ford KR, et al. Risk factors associated with lower extremity stress fractures in runners:a systematic review with meta-analysis. Br J Sports Med 2015;49(23):1517-23.

7) Pitsiladis YP, Tanaka M, Eynon N, et al. Athlome Project Consortium:a concerted effort to discover genomic and other “omic” markers of athletic performance. Physiol Genomics 2016;48(3):183-90.

8) Cintron D, Rodriguez-Gutierrez R, Serrano V, et al. Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome:a systematic review and meta-analysis. Endocrine 2017;55(2):366-75.

9) Kumagai H, Miyamoto-Mikami E, Kikuchi N, et al. A rs936306 C/T Polymorphism in the CYP19A1 Is Associated With Stress Fractures. J Strength Cond Res 2022;36(8):2322-5.

10) Kumagai H, Miyamoto-Mikami E, Takaragawa M, et al. Genetic polymorphisms in CYP19A1 and ESR1 are associated with serum CK activity after prolonged running in men. J Appl Physiol (1985) 2022;132(4):966-73.

11) Xie P, Liu B, Zhang L, et al. Association of COL1A1 polymorphisms with osteoporosis:a meta-analysis of clinical studies. Int J Clin Exp Med 2015;8(9):14764-81.

12) Miyamoto-Mikami E, Kumagai H, Tanisawa K, et al. Female athletes genetically susceptible to fatigue fracture are resistant to muscle injury:potential role of COL1A1 variant. Med Sci Sports Exerc 2021;53(9):1855-64.

13) Mann V, Hobson EE, Li B, et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107(7):899-907.

14) Hotta K, Nakata Y, Matsuo T, et al. Variations in the FTO gene are associated with severe obesity in the Japanese. J Hum Genet 2008;53(6):546-53.

15) Sugiyama N, Miyamoto-Mikami E, Takaragawa M, et al., editors. Association of FTO rs1558902 T/A polymorphism with stress fractures in athlete. The 77th Japanese Society of Physical Fitness and Sports Medicine Proceedings 2022;11(6):418.

16) Pitsiladis Y, Wang G, Wolfarth B, et al. Genomics of elite sporting performance:what little we know and necessary advances. Br J Sports Med 2013;47(9):550-5.

17) Zempo H, Miyamoto-Mikami E, Kikuchi N, et al., editors. Genome-wide association study for stress fracture. The 77th Japanese Society of Physical Fitness and Sports Medicine Proceedings 2022;11(6):419.

18) Goodlin GT, Roos AK, Roos TR, et al. Applying personal genetic data to injury risk assessment in athletes. PLoS One 2014;10(4):e0122676. doi:10.1371/journal.pone.0122676.