Abstract：
Osteoporosis (OP) and low bone mass can be debilitating and costly conditions if not acted on quickly. This disease is also difficult to diagnose as the symptoms develop unnoticed until fracture occurs. Therefore, gaining understanding of the genetic risk associated with these conditions could be beneficial for health-care professionals in early detection and prevention. The Boston Puerto Rican Osteoporosis (BPROS) study, an ancillary study to the Boston Puerto Rican Health Study (BPRHS), collected information regarding bone and bone health. All bone measurements were taken during regular BPROS visits using dual-energy X-ray absorptiometry. The OP was defined as T-score ≤ -2.5 (≥2.5 SDs below peak bone mass). Dietary variables were collected at the second wave of the BPRHS via a food frequency questionnaire. We conducted genome-wide associations with bone outcomes, including BMD and OP for 978 participants. We also examined the interactions with dietary quality on the relationships between genotype and bone outcomes. We further tested if candidate genetic variants described in previous GWAS on OP and BMD contribute to OP risk in this population. Four variants were associated with OP: rs114829316 (IQ motif containing J gene), rs76603051, rs12214684 (melanin-concentrating hormone receptor 2 gene), and rs77303493 (Ras and Rab interactor 2 gene), and 2 variants were associated with BMD of lumbar spine (rs11855618, cingulin-like 1 gene) and hip (rs73480593, NTRK2), reaching the genome-wide significance threshold of P ≤ 5E-08. In a gene-diet interaction analysis, we found that 1 SNP showed a significant interaction with the overall Dietary Approaches to Stop Hypertension (DASH) score, and 7 SNPs with sugar-sweetened beverages (SSBs), a major contributor to the DASH score. This study identifies new genetic markers related to OP and BMD in older Hispanic adults. Additionally, we uncovered unique genetic markers that interact with dietary quality, specifically SSBs, in relation to bone health. These findings may be useful to guide early detection and preventative care.
摘要：
背景：如果不迅速采取行动，骨质疏松（OP）和低骨量可能会使人衰弱且昂贵。这种疾病也很难诊断，因为直到骨折发生之前症状才被注意到。因此,了解与这些疾病相关的遗传风险可能有助于医疗保健专业人员的早期发现和预防。
方法：波士顿波多黎各人骨质疏松症（BPROS）研究，波士顿波多黎各人健康研究(BPRHS)的辅助研究，收集有关骨骼和骨骼健康的信息。在常规BPROS就诊期间使用双能X射线吸收测量法进行所有骨测量。骨质疏松症定义为T评分≤-2.5（峰值骨量以下2.5SD或更多）。通过食物频率问卷在BPRHS的第二波中收集饮食变量。我们对978名参与者进行了全基因组与骨结局的关联，包括骨矿物质密度（BMD）和OP。我们还研究了基因型和骨骼结局之间关系与饮食质量的相互作用。我们进一步测试了先前关于OP和BMD的GWAS中描述的候选遗传变异是否有助于该人群的OP风险。
结果：四种变异与OP相关：rs114829316（IQCJ），rs76603051,rs12214684(MCHR2),和rs77303493(RIN2)，以及腰椎BMD（rs11855618，CGNL1）和髋部BMD（rs73480593，NTRK2）的两种变体，达到全基因组显著性阈值P≤5E-08。在基因-饮食相互作用分析中，我们发现一个SNP与整体DASH得分表现出显著的相互作用，和7个SNPs含糖饮料，DASH得分的主要贡献者。
结论：这项研究确定了与老年西班牙裔成年人骨质疏松症和BMD相关的新遗传标记。此外,我们发现了与饮食质量相互作用的独特遗传标记，特别是含糖饮料，与骨骼健康有关。这些发现可能有助于指导早期发现和预防性护理。
方法：波士顿波多黎各人骨质疏松症（BPROS）研究，波士顿波多黎各人健康研究(BPRHS)的辅助研究，收集有关骨骼和骨骼健康的信息。在常规BPROS就诊期间使用双能X射线吸收测量法进行所有骨测量。骨质疏松症定义为T评分≤-2.5（峰值骨量以下2.5SD或更多）。通过食物频率问卷在BPRHS的第二波中收集饮食变量。我们对978名参与者进行了全基因组与骨结局的关联，包括骨矿物质密度（BMD）和OP。我们还研究了基因型和骨骼结局之间关系与饮食质量的相互作用。我们进一步测试了先前关于OP和BMD的GWAS中描述的候选遗传变异是否有助于该人群的OP风险。
结果：四种变异与OP相关：rs114829316（IQCJ），rs76603051,rs12214684(MCHR2),和rs77303493(RIN2)，以及腰椎BMD（rs11855618，CGNL1）和髋部BMD（rs73480593，NTRK2）的两种变体，达到全基因组显著性阈值P≤5E-08。在基因-饮食相互作用分析中，我们发现一个SNP与整体DASH得分表现出显著的相互作用，和7个SNPs含糖饮料，DASH得分的主要贡献者。
结论：这项研究确定了与老年西班牙裔成年人骨质疏松症和BMD相关的新遗传标记。此外,我们发现了与饮食质量相互作用的独特遗传标记，特别是含糖饮料，与骨骼健康有关。这些发现可能有助于指导早期发现和预防性护理。
