Genetic susceptibility of postmenopausal osteoporosis on sulfide
quinone reductase-like gene
Received: 5 March 2018 / Accepted: 14 May 2018
International Osteoporosis Foundation and National Osteoporosis Foundation 2018
Summary Postmenopausal osteoporosis is a major health problem with important genetic factors in postmenopausal women. We
explored the relationship between SQRDL and osteoporosis in a cohort of 1006 patients and 2027 controls from Han Chinese
postmenopausal women. Our evidence supported the significant role of SQRDL in the etiology of postmenopausal osteoporosis.
Introduction Postmenopausal osteoporosis (PMOP) is a metabolic bone disease leading to progressive bone loss and the
deterioration of the bone microarchitecture. The sulfide-quinone reductase-like protein is an important enzyme regulating the
cellular hydrogen sulfide levels, and it can regulate bone metabolism balance in postmenopausal women. In this study, we aimed
to investigate whether SQRDL is associated with susceptibility to PMOP in the Han Chinese population.
Methods A total of 3033 postmenopausal women, comprised of 1006 cases and 2027 controls, were recruited in the study.
Twenty-two SNPs were selected for genotyping to evaluate the association of SQRDL gene with BMD and PMOP. Association
analyses in both single marker and haplotype levels were performed for PMOP. Bone mineral density (BMD) was also utilized as
a quantitative phenotype in further analyses. Bioinformatics tools were applied to predict the functional consequences of targeted
polymorphisms in SQRDL.
Results The SNP rs1044032 (P =6.42×10
, OR = 0.80) was identified as significantly associated with PMOP. Three SNPs
(rs1044032, rs2028589, and rs12913151) were found to be significantly associated with BMD. Although limited functional
significance can be obtained for these polymorphisms, significant hits for association with PMOP were found. Moreover, further
association analyses with BMD identified three SNPs with significantly independent effects.
Conclusions Our evidence supported the significant role of SQRDL in the etiology of PMOP and suggest that it may be a genetic
risk factor for BMD and osteoporosis in Han Chinese postmenopausal women.
Keywords Bone mineral density
X. Cai and X. Yi contributed equally to this work.
Electronic supplementary material The online version of this article
(https://doi.org/10.1007/s00198-018-4575-9) contains supplementary
material, which is available to authorized users.
* H. Liu
Department of Orthopaedic Surgery, The Second Affiliated Hospital
of Xi’an Jiaotong University, No.157, Xiwu Road,
Xi’an 710004, Shaanxi, China
Department of Pediatrics, The Second Affiliated Hospital of Xi’an
Jiaotong University, No.157, Xiwu Road, Xi’an 710004, Shaanxi,
Department of Orthopedic, The First Affiliated Hospital of Xi’an
Jiaotong University, No.277, Yanta West Road,
Xi’an 710061, Shaanxi, China
Department of Joint Surgery, Honghui Hospital, Xi’an Jiaotong
University Health Science Center, No.555, Youyi East Road,
Xi’an 710054, Shaanxi, China
Department of Trauma, Honghui Hospital, Xi’an Jiaotong University
Health Science Center, No.555, Youyi East Road,
Xi’an 710054, Shaanxi, China