Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women

Abstract Background Osteoporosis (OP) is a complex bone metabolism disorder characterized by the loss of bone minerals and an increased risk of bone fracture. A recent study reported the relationship of the macrophage erythroblast attacher gene (MAEA) with low bone mineral density in postmenopausal...

Full description

Bibliographic Details
Main Authors: Xuan Cai, Jun Dong, Teng Lu, Liqiang Zhi, Xijing He
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Journal of Orthopaedic Surgery and Research
Subjects:
Online Access:https://doi.org/10.1186/s13018-020-02140-4
_version_ 1828747466962370560
author Xuan Cai
Jun Dong
Teng Lu
Liqiang Zhi
Xijing He
author_facet Xuan Cai
Jun Dong
Teng Lu
Liqiang Zhi
Xijing He
author_sort Xuan Cai
collection DOAJ
description Abstract Background Osteoporosis (OP) is a complex bone metabolism disorder characterized by the loss of bone minerals and an increased risk of bone fracture. A recent study reported the relationship of the macrophage erythroblast attacher gene (MAEA) with low bone mineral density in postmenopausal Japanese women. Our study aimed to investigate the association of MAEA with postmenopausal osteoporosis (PMOP) in Han Chinese individuals. Methods A total of 968 unrelated postmenopausal Chinese women comprising 484 patients with PMOP and 484 controls were recruited. Four tag single nucleotide polymorphisms (SNPs) that covered the gene region of MAEA were chosen for genotyping. Single SNP and haplotypic association analyses were performed, and analysis of variance was conducted to test the correlation between blood MAEA protein level and genotypes of associated SNPs. Results SNP rs6815464 was significantly associated with the risk of PMOP. The C allele of rs6815464 was strongly correlated with the decreased risk of PMOP in our study subjects (OR[95% CI]=0.75[0.63-0.89], P=0.0015). Significant differences in MAEA protein blood levels among genotypes of SNP rs6815464 were identified in both the PMOP (F=6.82, P=0.0012) and control groups (F=11.5, P=0.00001). The C allele was positively associated with decreased MAEA protein levels in blood. Conclusion This case-control study on Chinese postmenopausal women suggested an association between SNP rs6815464 of MAEA and PMOP. Further analyses showed that genotypes of SNP rs6815464 were also associated with the blood level of MAEA protein.
first_indexed 2024-04-14T04:42:20Z
format Article
id doaj.art-f531ffc84b854595ad676e9c643a90a6
institution Directory Open Access Journal
issn 1749-799X
language English
last_indexed 2024-04-14T04:42:20Z
publishDate 2021-01-01
publisher BMC
record_format Article
series Journal of Orthopaedic Surgery and Research
spelling doaj.art-f531ffc84b854595ad676e9c643a90a62022-12-22T02:11:37ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2021-01-011611710.1186/s13018-020-02140-4Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal womenXuan Cai0Jun Dong1Teng Lu2Liqiang Zhi3Xijing He4Department of Orthopaedic Surgery, The Second Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Orthopaedic Surgery, The Second Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Orthopaedic Surgery, The Second Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Joint Surgery, Honghui Hospital of Xi’an Jiaotong UniversityDepartment of Orthopaedic Surgery, The Second Affiliated Hospital of Xi’an Jiaotong UniversityAbstract Background Osteoporosis (OP) is a complex bone metabolism disorder characterized by the loss of bone minerals and an increased risk of bone fracture. A recent study reported the relationship of the macrophage erythroblast attacher gene (MAEA) with low bone mineral density in postmenopausal Japanese women. Our study aimed to investigate the association of MAEA with postmenopausal osteoporosis (PMOP) in Han Chinese individuals. Methods A total of 968 unrelated postmenopausal Chinese women comprising 484 patients with PMOP and 484 controls were recruited. Four tag single nucleotide polymorphisms (SNPs) that covered the gene region of MAEA were chosen for genotyping. Single SNP and haplotypic association analyses were performed, and analysis of variance was conducted to test the correlation between blood MAEA protein level and genotypes of associated SNPs. Results SNP rs6815464 was significantly associated with the risk of PMOP. The C allele of rs6815464 was strongly correlated with the decreased risk of PMOP in our study subjects (OR[95% CI]=0.75[0.63-0.89], P=0.0015). Significant differences in MAEA protein blood levels among genotypes of SNP rs6815464 were identified in both the PMOP (F=6.82, P=0.0012) and control groups (F=11.5, P=0.00001). The C allele was positively associated with decreased MAEA protein levels in blood. Conclusion This case-control study on Chinese postmenopausal women suggested an association between SNP rs6815464 of MAEA and PMOP. Further analyses showed that genotypes of SNP rs6815464 were also associated with the blood level of MAEA protein.https://doi.org/10.1186/s13018-020-02140-4Postmenopausal osteoporosisSingle nucleotide polymorphismsGenetic associationCase-control study
spellingShingle Xuan Cai
Jun Dong
Teng Lu
Liqiang Zhi
Xijing He
Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
Journal of Orthopaedic Surgery and Research
Postmenopausal osteoporosis
Single nucleotide polymorphisms
Genetic association
Case-control study
title Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
title_full Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
title_fullStr Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
title_full_unstemmed Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
title_short Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
title_sort common variants in maea gene contributed the susceptibility to osteoporosis in han chinese postmenopausal women
topic Postmenopausal osteoporosis
Single nucleotide polymorphisms
Genetic association
Case-control study
url https://doi.org/10.1186/s13018-020-02140-4
work_keys_str_mv AT xuancai commonvariantsinmaeagenecontributedthesusceptibilitytoosteoporosisinhanchinesepostmenopausalwomen
AT jundong commonvariantsinmaeagenecontributedthesusceptibilitytoosteoporosisinhanchinesepostmenopausalwomen
AT tenglu commonvariantsinmaeagenecontributedthesusceptibilitytoosteoporosisinhanchinesepostmenopausalwomen
AT liqiangzhi commonvariantsinmaeagenecontributedthesusceptibilitytoosteoporosisinhanchinesepostmenopausalwomen
AT xijinghe commonvariantsinmaeagenecontributedthesusceptibilitytoosteoporosisinhanchinesepostmenopausalwomen