Genetic variants in the PLS3 gene are associated with osteoporotic fractures in postmenopausal Chinese women

Authors: Chong Shao1, Yi-wen Wang2, Jin-wei He1, Wen-zhen Fu1, Chun Wang1, Zhen-lin Zhang1
1 1Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China
2 Georgetown University, Washington, DC, USA
Correspondence to: Chun Wang:, Zhen-lin Zhang:,
DOI: 10.1038/s41401-019-0219-7
Received: 14 September 2018
Accepted: 24 December 2018
Advance online: 5 March 2019


Plastin 3 (PLS3) has been identified as a candidate gene for bone fragility in the Rotterdam study (RS) population. So far, however, whether PLS3 polymorphisms are genetic risk factors for osteoporosis in Asian population remains unclear. In order to investigate the association between genetic variants in PLS3 and the risk of fragility fracture and/or bone mineral density (BMD) in postmenopausal Chinese women, we conducted a case-control association study. A total of 1083 postmenopausal patients with osteoporotic fractures and 2578 unrelated non-fracture controls in Shanghai were enrolled. Seven SNPs, including six tagSNPs in PLS3 and one identified genetic risk factor (rs140121121) for osteoporosis in the RS population, were genotyped in all the participants. BMD at lumbar spine and hip sites were measured in 2578 controls. Association between SNPs and the risk of osteoporotic fractures and/or BMD were analyzed. The GC genotype of rs757124 and AC genotype of rs10521693 were associated with lumbar vertebral fracture (P = 0.020 and 0.046, respectively). The association between tagSNPs and BMD were analyzed only in 2546 controls to avoid biased conclusion. rs757124 was significantly associated with BMD at lumbar spine and hip sites. GG genotype had the highest BMD at lumbar spine (L1-4), while CC genotype had the highest BMD at hip sites. Our results suggest that polymorphisms in PLS3 are genetic loci for osteoporosis in postmenopausal Chinese women.
Keywords: Plastin 3; polymorphisms; osteoporosis; fracture; bone mineral density; postmenopausal Chinese women

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