Oral Presentation ESA-SRB-ANZBMS 2024 in conjunction with ENSA

Novel Genetic Variants Associated with Bone Mineral Density (#316)

Ngoc Huynh 1 , Krisel De Dios 1 , Thach Son Tran 1 2 , John Peter Kemp 3 , Lan T Ho-Pham 4 , Tuan Nguyen 1 5
  1. School of Biomedical Engineering, University of Technology Sydney, Sydney, NSW, Australia
  2. Garvan Institute of Medical Research, Sydney, NSW, Australia
  3. Musculoskeletal Genomics Group, Mater Research Institute, University of Queensland, Brisbane, QLD, Australia
  4. Saigon Precision Medicine Research Center, Ho Chi Minh City, Vietnam
  5. School of Population Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, Australia

Background

Previous studies have identified numerous genetic variants linked to bone mineral density (BMD) in Caucasian populations; however, similar research on Southeast Asian populations remains limited. This study aimed to fill this gap by examining genetic variants associated with BMD in Vietnamese individuals.

Methods

We conducted a genome-wide association study (GWAS) involving over 4,200 men and women aged 20 years and older from the Vietnam Osteoporosis Study project. Participants were randomly selected from various districts in Saigon, Vietnam. BMD at the femoral neck, total hip, and lumbar spine was measured using dual-energy X-ray absorptiometry (Hologic Horizon). Genotypes were determined by the Illumina Infinium assay platform, specifically the Global Screen Array, which includes over 700,000 single nucleotide polymorphisms (SNPs). For quality control, we applied stringent filtering criteria: SNPs with a call rate below 98%, a minor allele frequency (MAF) less than 1%, or a P-value for Hardy-Weinberg equilibrium exceeding 1 x 10^-4 were excluded. Probes targeting the X and Y chromosomes were also removed from the analysis.

Results

The average age of the participants was 50, ranging from 20 to 90 years. After adjusting for age and BMI in a multiple linear regression model, we identified 17 SNPs associated with BMD. Among these, 8 SNPs were mapped to specific genes: SORCS2(rs4689808), SERGEF(rs2107426), LINC02131(rs7186410), AK4(rs76790101), LOC105370112(rs7325467), ATXN10(rs528202723), and GPRASP/ARMCX5-GPRASP2(rs201921260 and rs766843). Additionally, our results confirmed 7 SNPs (rs1871859, rs3779381, rs2908004, rs3801387, rs10242100, rs917727, rs7776725) previously known to be associated with BMD in Caucasian populations.

Conclusion

We have identified 17 SNPs associated with BMD in the Vietnamese population, expanding the understanding of genetic influences on BMD beyond previously studied Caucasian populations. These findings provide valuable insights into the genetic determinants of BMD in Southeast Asian populations and highlight the importance of including diverse ethnic groups in genetic research related to osteoporosis.

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