Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.
Eur J Endocrinol. 2022 May 19;187(1):91-99. doi: 10.1530/EJE-21-1104.
Mild to moderate hypertriglyceridemia is a condition often associated with obesity and diabetes, with as yet incomplete knowledge of underlying genetic architecture. The 22q11.2 microdeletion is associated with multimorbidity, including increased risk of obesity and diabetes. In this study, we sought to investigate whether the 22q11.2 microdeletion was associated with mild to moderate hypertriglyceridemia (1.7-10 mmol/L).
This was a cohort study comparing 6793 population-based adults and 267 with a 22q11.2 microdeletion aged 17-69 years, excluding those with diabetes or on statins.
We used binomial logistic regression modeling to identify predictors of hypertriglyceridemia, accounting for the 22q11.2 microdeletion, male sex, BMI, ethnicity, age, and antipsychotic medications.
The 22q11.2 microdeletion was a significant independent predictor of mild to moderate hypertriglyceridemia (odds ratio (OR): 2.35, 95% CI: 1.70-3.26). All other factors examined were also significant predictors (OR: 1.23-2.10), except for antipsychotic medication use. Within the 22q11.2 microdeletion subgroup, only male sex (OR: 3.10, 95% CI: 1.77-5.44) and BMI (OR: 1.63, 95% CI: 1.14-1.98) were significant predictors of hypertriglyceridemia, evident at mean age 31.2 years.
The 22q11.2 microdeletion is associated with hypertriglyceridemia even when accounting for other known risk factors for elevated triglycerides. This effect is seen in young adulthood (76.6% were <40 years), in the absence of diabetes, and irrespective of antipsychotics, suggesting that the 22q11.2 microdeletion may represent an unrecognized genetic risk factor for hypertriglyceridemia, providing novel opportunities for animal and cellular models. Early dyslipidemia screening and management strategies would appear prudent for individuals with 22q11.2 microdeletions.
轻度至中度高甘油三酯血症通常与肥胖和糖尿病有关，但对其潜在遗传结构的了解尚不完整。22q11.2 微缺失与多种疾病相关，包括肥胖和糖尿病风险增加。在这项研究中，我们试图研究 22q11.2 微缺失是否与轻度至中度高甘油三酯血症（1.7-10mmol/L）有关。
这是一项队列研究，比较了 6793 名基于人群的成年人和 267 名年龄在 17-69 岁之间患有 22q11.2 微缺失的成年人，排除了患有糖尿病或服用他汀类药物的成年人。
我们使用二项逻辑回归模型来识别高甘油三酯血症的预测因素，同时考虑 22q11.2 微缺失、男性、BMI、种族、年龄和抗精神病药物。
22q11.2 微缺失是轻度至中度高甘油三酯血症的显著独立预测因子（优势比（OR）：2.35，95%CI：1.70-3.26）。所有其他检查的因素也是显著的预测因子（OR：1.23-2.10），除了抗精神病药物的使用。在 22q11.2 微缺失亚组中，只有男性（OR：3.10，95%CI：1.77-5.44）和 BMI（OR：1.63，95%CI：1.14-1.98）是高甘油三酯血症的显著预测因子，在平均年龄 31.2 岁时明显。
即使考虑到其他升高甘油三酯的已知危险因素，22q11.2 微缺失也与高甘油三酯血症有关。这种影响在年轻成年人（76.6%的人<40 岁）中可见，且没有糖尿病，也与抗精神病药物无关，这表明 22q11.2 微缺失可能是高甘油三酯血症的一个未被识别的遗传危险因素，为动物和细胞模型提供了新的机会。对于 22q11.2 微缺失的个体，早期血脂异常筛查和管理策略似乎是明智的。
