Kwon Tack-Kyun, Chung Eun Jae, Lee Nuri, Roh Eun Youn, Song Eun Young
Department of Otolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul, South Korea.
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.
J Otolaryngol Head Neck Surg. 2017 Mar 15;46(1):21. doi: 10.1186/s40463-017-0197-z.
FoxP3 is the most dependable marker for regulatory T cells which play a major role in immune tolerance. Foxp3 gene polymorphisms were associated with various autoimmune diseases and clearance of viral infections. We studied the association of Foxp3 polymorphisms in severe RRP patients.
A total of 30 Korean severe RRP patients and 195 healthy controls were enrolled. Foxp3 polymorphisms (rs5902434 del/ATT, rs3761548 C/A, rs3761549 C/T, and rs2232365 G/A) were determined by PCR and sequencing.
Genotype frequencies (GF) of rs5902434 ATT/ATT and rs2232365 GG were significantly decreased in female RRP patients than controls (0.0% vs 23.0%, p = 0.039, OR = 9.4 for both).
We showed that Foxp3 polymorphism of rs5902434 and rs2232365 could be an important protective factor in the susceptibility of severe RRP in female Koreans. Further studies on larger number of patients and other ethnic groups are needed to clarify the association.
FoxP3是调节性T细胞最可靠的标志物，调节性T细胞在免疫耐受中起主要作用。Foxp3基因多态性与多种自身免疫性疾病及病毒感染的清除有关。我们研究了严重复发性呼吸道乳头状瘤病（RRP）患者中Foxp3多态性的相关性。
共纳入30例韩国严重RRP患者和195例健康对照。通过聚合酶链反应（PCR）和测序确定Foxp3多态性（rs5902434 del/ATT、rs3761548 C/A、rs3761549 C/T和rs2232365 G/A）。
女性RRP患者中rs5902434 ATT/ATT和rs2232365 GG的基因型频率（GF）显著低于对照组（均为0.0% 对23.0%，p = 0.039，两者的比值比（OR）均为9.4）。
我们表明，rs5902434和rs2232365的Foxp3多态性可能是韩国女性严重RRP易感性的重要保护因素。需要对更多患者和其他种族进行进一步研究以阐明这种关联。
