Female Athletes Genetically Susceptible to Fatigue Fracture Are Resistant to Muscle Injury: Potential Role of COL1A1 Variant

Miyamoto‐Mikami, Eri; Kumagai, Hiroshi; Tanisawa, Kumpei; Taga, Yuki; Hirata, Kosuke; Kikuchi, Naoki; Kamiya, Nobuhiro; Kawakami, Ryoko; Midorikawa, Taishi; Kawamura, Takanobu; Kakigi, Ryo; Natsume, Toshiharu; Zempo, Hirofumi; Suzuki, Koya; Kohmura, Yoshimitsu; Mizuno, Kazunori; Torii, Suguru; Sakamoto, Shizuo; Oka, Koichiro; Higuchi, Mitsuru; Naito, Hisashi; Miyamoto, Naokazu; Fuku, Noriyuki

doi:10.1249/mss.0000000000002658

Cited by 9 publications

(16 citation statements)

References 51 publications

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“…In contrast, a previous study suggested that the CC genotype carriers had significantly lower lumbar spine BMD than AA genotype carriers [13]. The CC genotype in COL1A1 rs1107946 polymorphism may be a risk factor for low BMD and fatigue fractures [13,[37][38][39]. Therefore, there is a trade-off between muscle and bone injury: the A allele in COL1A1 is associated with higher BMD, while the C allele decreases the risk of muscle injury.…”

Section: Discussionmentioning

confidence: 81%

“…A previous study reported an association between COL1A1 rs1107946 polymorphism and flexibility (e.g., muscle stiffness) [ 13 ]. The study suggested that the C allele (CC + AC genotype) of COL1A1 rs1107946 polymorphism shows lower muscle stiffness than the AA genotype.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies on monozygotic and dizygotic twins suggest that 18–55% of the heritability in flexibility (based on assessments of “sit-and-reach”) is explained by genetic factors [ 10 , 11 , 12 ]. Gene polymorphisms associated with flexibility include the range of motion, muscle stiffness, and general joint laxity [ 9 , 13 , 14 , 15 , 16 ]. A recent study showed that COL1A1 gene rs1107946 polymorphism is associated with muscle stiffness and injury [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

“…Gene polymorphisms associated with flexibility include the range of motion, muscle stiffness, and general joint laxity [ 9 , 13 , 14 , 15 , 16 ]. A recent study showed that COL1A1 gene rs1107946 polymorphism is associated with muscle stiffness and injury [ 13 ]. Flexibility is influenced by the properties of intramuscular tissues [ 17 ].…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, elongation of the muscle tissue across the joint may affect the range of motion measured by the sit-and-reach test. A previous study suggested that the C allele in the COL1A1 rs1107946 polymorphism tends to have a larger type I collagen α1/α2 chain ratio than the AA genotype, and lower muscle stiffness was shown in the C allele compared with the AA genotype [ 13 ]. Hence, COL1A1 gene rs1107946 polymorphism may also be associated with the range of motion, but this remains to be verified.…”

Section: Introductionmentioning

confidence: 99%

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Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility?

Ginszt

Semenova

Massidda

et al. 2022

Genes

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The purpose of this study was to compare the frequency of COL1A1 rs1107946 polymorphism between sport climbers and controls from three ethnic groups (Japanese, Polish, and Russian) and investigate the effect of the COL1A1 rs1107946 polymorphism on the age-related decrease in flexibility in the general population. Study I consisted of 1929 healthy people (controls) and 218 climbers, including Japanese, Polish, and Russian participants. The results of the meta-analysis showed that the frequency of the AC genotype was higher in climbers than in the controls (p = 0.03). Study II involved 1093 healthy Japanese individuals (435 men and 658 women). Flexibility was assessed using a sit-and-reach test. There was a tendency towards association between sit-and-reach and the COL1A1 rs1107946 polymorphism (genotype: p = 0.034; dominant: p = 0.435; recessive: p = 0.035; over-dominant: p = 0.026). In addition, there was a higher negative correlation between sit-and-reach and age in the AA + CC genotype than in the AC genotype (AA + CC: r = −0.216, p < 0.001; AC: r = −0.089, p = 0.04; interaction p = 0.037). However, none of these results survived correction for multiple testing. Further studies are warranted to investigate the association between the COL1A1 gene variation and exercise-related phenotypes.

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