Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women

• 영문명: Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
• 발행기관: 대한의학유전학회
• 저자명: Bo-Young Kim Do-Wan Kim Eunkuk Park Jeonghyun Kim Chang-Gun Lee Hyun-Seok Jin Seon-Yong Jeong
• 간행물 정보: 『대한의학유전학회지』제19권 제2호, 63~75쪽, 전체 13쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2022.12.31

영문 초록

Purpose: Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced risk of bone fragility. In this study, we aimed to identify novel genes for susceptibility to osteoporosis and/or bone density. Materials and Methods: To identify differentially expressed genes (DEGs) between control and osteoporosis-induced cells, annealing control primer-based differential display reverse-transcription polymerase chain reaction (RT-PCR) was carried out in pre-osteoblast MC3T3-E1 cells. Expression levels of the identified DEGs were evaluated by quantitative RT-PCR. Associa-tion studies for the quantitative bone density analysis and osteoporosis case-control analysis of single nucleotide polymor-phism (SNPs) were performed in Korean women (3,570 subjects) from the Korean Association REsource (KARE) study cohort. Results: Comparison analysis of expression levels of the identified DEGs by quantitative RT-PCR found seven genes, Anxa6, Col5a1, Col6a2, Eno1, Myof, Nfib, and Scara5, that showed significantly different expression between the dexamethason-treated and untreated MC3T3-E1 cells and between the ovariectomized osteoporosis-induced mice and sham mice. Associa-tion studies revealed that there was a significant association between the SNPs in the five genes, ANXA6, COL5A1, ENO1, MYOF, and SCARA5, and bone density and/or osteoporosis. Conclusion: Using a whole-genome comparative expression analysis, gene expression evaluation analysis, and association analysis, we found five genes that were significantly associated with bone density and/or osteoporosis. Notably, the associa-tion P-values of the SNPs in the ANXA6 and COL5A1 genes were below the Bonferroni-corrected significance level.

목차

Introduction

Materials and Methods

Results

Discussion

Acknowledgements

Authors’ Contributions

References

키워드

Osteoporosis Differentially expressed gene Single nucleotide polymorphism Genetic variation Association study