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. 2020 Aug 27;11(9):1012.
doi: 10.3390/genes11091012.

PPARGC1A rs8192678 and NRF1 rs6949152 Polymorphisms Are Associated with Muscle Fiber Composition in Women

Thomas Yvert  1   2 , Eri Miyamoto-Mikami  1 , Takuro Tobina  3 , Keisuke Shiose  4 , Ryo Kakigi  5 , Takamasa Tsuzuki  6 , Mizuki Takaragawa  1 , Noriko Ichinoseki-Sekine  1   7 , Margarita Pérez  2 , Hiroyuki Kobayashi  8 , Hiroaki Tanaka  9 , Hisashi Naito  1 , Noriyuki Fuku  1
Affiliations

PPARGC1A rs8192678 and NRF1 rs6949152 Polymorphisms Are Associated with Muscle Fiber Composition in Women

Thomas Yvert et al. Genes (Basel). .

Abstract

PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms have been associated with endurance athlete status, endurance performance phenotypes, and certain health-related markers of different pathologies such as metabolic syndrome, diabetes, and dyslipidemia. We hypothesized that they could be considered interesting candidates for explaining inter-individual variations in muscle fiber composition in humans. We aimed to examine possible associations of these polymorphisms with myosin heavy-chain (MHC) isoforms as markers of muscle fiber compositions in vastus lateralis muscle in a population of 214 healthy Japanese subjects, aged between 19 and 79 years. No significant associations were found in men for any measured variables. In contrast, in women, the PPARGC1A rs8192678 A/A genotype was significantly associated with a higher proportion of MHC-I (p = 0.042) and with a lower proportion of MHC-IIx (p = 0.033), and the NRF1 rs6949152 AA genotype was significantly associated with a higher proportion of MHC-I (p = 0.008) and with a lower proportion of MHC IIx (p = 0.035). In women, the genotype scores of the modes presenting the most significant results for PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms were significantly associated with MHC-I (p = 0.0007) and MHC IIx (p = 0.0016). That is, women with combined PPARGC1A A/A and NRF1 A/A genotypes presented the highest proportion of MHC-I and the lowest proportion of MHC-IIx, in contrast to women with combined PPARGC1A GG+GA and NRF1 AG+GG genotypes, who presented the lowest proportion of MHC-I and the highest proportion of MHC-IIx. Our results suggest possible associations between these polymorphisms (both individually and in combination) and the inter-individual variability observed in muscle fiber composition in women, but not in men.

Keywords: PGC-1α; SNP; genotype score; myosin heavy chain; nuclear respiratory factor.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Typical image of myosin heavy-chain (MHC) isoforms determined by SDS-PAGE.
Figure 2
Figure 2
Genotype scores as combined effects of PPARGC1A rs8192678 G/A (Gly482Ser) (AA = 2 vs. GG + GA = 0) and NRF1 rs6949152 A/G (AA = 2 vs. AG + GG = 0) polymorphisms on MHC-I (a), MHC-IIa (b), and MHC-IIx content (c) in women.
See this image and copyright information in PMC

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