INFANT Research Centre, Ireland; Department of Paediatrics and Child Health, University College Cork, Ireland.
RiverD International B.V., Rotterdam The Netherlands.
Ann Allergy Asthma Immunol. 2020 May;124(5):500-504. doi: 10.1016/j.anai.2020.01.022. Epub 2020 Feb 6.
Carriers of loss-of-function mutations in the filaggrin gene (LoF FLG) have less natural moisturizing factor (NMF) in their stratum corneum (SC) and an increased risk of atopic dermatitis (AD). Natural moisturizing factor can be measured noninvasively by Raman spectroscopy. The use of Raman-derived NMF at birth to screen for FLG genotype could inform targeted AD prevention, but values in neonatal populations are largely unexplored.
To examine the associations between Raman-derived neonatal NMF measurements and FLG genotype.
Natural moisturizing factor was measured by Raman spectroscopy in the SC of the thenar eminence within 4 days of birth in 139 term neonates. Filaggrin genotyping was performed for 117 neonates (84%).
The mean (SD) NMF was 0.37 (0.11) g/g protein, with values increasing across the first 3 days (day 1 vs 3: 0.29 [0.09] vs 0.43 [0.08, P < .001]). Twelve infants (10.3%) were carriers of LoF FLG, all heterozygous. Natural moisturizing factor was lower in LoF FLG carriers compared with wild-type (0.27 [0.08] vs 0.38 [0.11] g/g protein, P ≤ .001). Natural moisturizing factor had good discriminatory power for FLG genotype (area under the receiver operating curve [AUROC]: 0.79; 95% CI: 0.66, 0.91; P ≤ .001). This improved after correcting day 1 and 2 measurements to day 3 (AUROC: 0.83; 95% CI: 0.75, 0.92; P < .001).
This study suggests that Raman-derived NMF measured in the early postnatal period may have the potential to classify by FLG genotype. The full translational value of this needs to be determined.
角蛋白丝聚合蛋白基因（FLG）失活突变的携带者其角质层中的天然保湿因子（NMF）较少，患特应性皮炎（AD）的风险增加。NMF 可通过拉曼光谱非侵入性地测量。出生时使用拉曼衍生的 NMF 筛查 FLG 基因型可能有助于有针对性地预防 AD，但新生儿人群中的这些值在很大程度上尚未得到探索。
检查拉曼衍生的新生儿 NMF 测量值与 FLG 基因型之间的相关性。
在 139 名足月新生儿出生后 4 天内，通过拉曼光谱测量大鱼际处的 SC 中的天然保湿因子。对 117 名新生儿（84%）进行了角蛋白丝聚合蛋白基因分型。
NMF 的平均值（SD）为 0.37（0.11）g/g 蛋白，在前 3 天内呈增加趋势（第 1 天与第 3 天：0.29[0.09] vs 0.43[0.08，P<0.001]）。12 名婴儿（10.3%）为 LoF FLG 携带者，均为杂合子。与野生型相比，LoF FLG 携带者的 NMF 较低（0.27[0.08] vs 0.38[0.11]g/g 蛋白，P≤0.001）。NMF 对 FLG 基因型具有良好的区分能力（接受者操作特征曲线下面积[AUROC]：0.79；95%CI：0.66，0.91；P≤0.001）。在纠正第 1 天和第 2 天的测量值至第 3 天后，这一结果得到了改善（AUROC：0.83；95%CI：0.75，0.92；P<0.001）。
本研究表明，在新生儿早期测量的拉曼衍生 NMF 可能具有分类 FLG 基因型的潜力。这需要进一步确定其全部转化价值。
