Epistatic interactions between MBL2 and SOST modulate BMD in AIS and control females
Refereed conference paper presented and published in conference proceedings


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摘要Background: Adolescent idiopathic scoliosis (AIS) can be regarded as complex genetic disorder resulting from interplay between multiple genes and environment. Low bone mineral density (BMD) is characteristic systemic phenotype in AIS. Despite an increasing number of genes identified to have independent effects on BMD, few studies focused on gene-gene interaction. This study examined the epistatic interaction between selected genes on BMD in AIS and controls.

Methods: Girls with AIS were recruited from Scoliosis Clinic. Patients having a history of congenital deformity, neuromuscular diseases, endocrinal causes of scoliosis, autoimmune disorders and having scoliosis due to abnormal bone metabolism were excluded. Controls were recruited from secondary schools. Areal BMD (aBMD) at bilateral femoral neck was measured with DXA while 3D assessment on bone quality with HR-pQCT was conducted at non-dominant distal radius. Ten SNPs were selected and genotyped by IPLEX Sequenom MassARRAY platform. Epistatic interactions were analysed by generalised multifactor dimensionality reduction (GMDR).

Results: In total, 318 AIS patients and 201 controls were recruited. SPTBN1_rs4233949 and MEPE_ rs6532023 not passing the Hardy-Weinberg equilibrium were excluded from subsequent analyses. GMDR analyses revealed significant multiplelocus interactions for different BMD parameters: 3-locus and 6-locus interactions for Z-score of left femoral neck (FN)-aBMD, 3-locus, 4-locus, 5-locus and 6-locus interactions for Z-score of right FN-aBMD, 3-locus interaction for total volumetric BMD (vBMD), and 3-locus and 4-locus interactions for trabecular vBMD. MBL2_rs1373004 and SOST_rs4792909 were the SNPs most consistently associated with various BMD parameters.

Conclusions: Epistatic interactions are detected among MBL2_rs1373004 and SOST_rs4792909 modulating BMD in AIS
and controls.
著者Man Fung Tang, Ka Lo Cheng, Wayne Yuk Wai Lee, Jack Chun Yiu Cheng, Tsz Ping Lam
會議名稱Hong Kong Orthopaedic Association 40th Annual Congress 2020 (HKOA 2020)
會議開始日31.10.2020
會議完結日01.11.2020
會議地點Hong Kong
會議國家/地區香港
出版年份2020
月份10
出版地Hong Kong
語言英式英語

上次更新時間 2021-06-01 於 10:34