Biswas Pritam, Banerjee Sudipta, Bhattacharya Paromita, Mukhoti Krishanu, Sarkar Moulibrata, Chowdhury Subhankar, Sahana Pranab Kumar
Department of Endocrinology, IPGME&R, Kolkata 700020, India.
Genetic Service Unit, BRIC-NIBMG, PG-Polyclinic, Kolkata 700020, India.
J Endocr Soc. 2025 May 8;9(7):bvaf082. doi: 10.1210/jendso/bvaf082. eCollection 2025 Jul.
Prader-Willi syndrome (PWS) is 1 of the most common monochromosomal (15q11-13) causes of polygenic syndromic childhood obesity.
We primarily compare and correlate serum lipoprotein(a) [Lp(a)], high-sensitivity C-reactive protein (hs-CRP), and baseline clinical characteristics of genetically confirmed children with PWS at their GH treatment-naïve stage to their control groups. Secondary objectives were to correlate serum Lp(a) and hs-CRP concentration to multiplex ligation-dependent probe amplification subgroups, body composition indices, sleep apnea parameters, and hepatic shear-stress by 2-dimensional shear wave elastography in children with PWS.
A total of 32 genetically confirmed PWS children (age 5 to 18 years), 20 simple obesity children, and 20 healthy children as age-matched control groups were studied for the primary and secondary study objectives.
Lp(a) was higher in the study group as compared to the control group ( .0001), but we found no difference between the control groups ( = .9680).In addition, no correlation was detected in Lp(a) levels in the study population with respect to their body weight, body mass index, and waist circumference. hs-CRP levels were also higher in the study population compared to both control groups ( = .0962; < .0001); in contrast, Lp(a) differed significantly between the control groups ( = .002). Lower fat-free mass index (FFMI) correlated with higher levels of serum Lp(a) ( = -0.5525; = .001), whereas FFMI was not correlated with hs-CRP levels in PWS children ( = .657). Based on genomic subtypes, patients with PWS were divided into deletion and nondeletion genetic subgroups. We found significantly altered levels of Lp(a), hs-CRP, fat-free mass, and sleep apnea parameters, particularly in the deletion subgroup.
Serum Lp(a) as well as hs-CRP stand out to be the core independent risk factors along with their strong correlation with the other study parameters, which necessitates the role of future targeted therapeutics in PWS, especially in deletion pathology. Thus, genetic subtyping during diagnostic confirmation endorses further prognostic elaboration.
普拉德-威利综合征（PWS）是儿童多基因综合征性肥胖最常见的单染色体（15q11 - 13）病因之一。
我们主要比较并关联基因确诊的PWS儿童在未接受生长激素治疗阶段的血清脂蛋白(a)[Lp(a)]、高敏C反应蛋白（hs-CRP）及基线临床特征与其对照组。次要目的是在PWS儿童中，将血清Lp(a)和hs-CRP浓度与多重连接依赖探针扩增亚组、身体成分指数、睡眠呼吸暂停参数以及二维剪切波弹性成像测量的肝脏剪切应力进行关联。
共研究了32名基因确诊的PWS儿童（年龄5至18岁）、20名单纯肥胖儿童以及20名健康儿童作为年龄匹配的对照组，以实现主要和次要研究目的。
与对照组相比，研究组的Lp(a)更高（P <.0001），但我们发现对照组之间无差异（P =.9680）。此外，研究人群中Lp(a)水平与其体重、体重指数和腰围之间未检测到相关性。与两个对照组相比，研究人群中的hs-CRP水平也更高（P =.0962；P <.0001）；相反，对照组之间Lp(a)差异显著（P =.002）。较低的去脂体重指数（FFMI）与较高的血清Lp(a)水平相关（r = - 0.5525；P =.001），而在PWS儿童中FFMI与hs-CRP水平无关（P =.657）。基于基因组亚型，PWS患者被分为缺失和非缺失遗传亚组。我们发现Lp(a)、hs-CRP、去脂体重和睡眠呼吸暂停参数水平有显著改变，尤其是在缺失亚组中。
血清Lp(a)以及hs-CRP是核心独立危险因素，且与其他研究参数密切相关，这使得未来针对性治疗在PWS中，尤其是在缺失病理中具有重要作用。因此，诊断确认期间的基因分型有助于进一步的预后阐述。
