Dmytrzak Andrzej, Boroń Agnieszka, Łoniewska Beata, Lewandowska Klaudyna, Gorący Iwona, Kaczmarczyk Mariusz, Ciechanowicz Andrzej
Aesthetic Med Andrzej Dmytrzak Prywatne Centrum Chirurgii Plastycznej i Rekonstrukcyjnej, ul. Niedzialkowskiego 47, 71-403 Szczecin, Poland.
Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, al. Powstancow Wlkp. 72, 70-111 Szczecin, Poland.
Dermatol Res Pract. 2019 Nov 13;2019:6179063. doi: 10.1155/2019/6179063. eCollection 2019.
Keloid is defined as a benign proliferative scar that grows beyond the confines of the original insult to the skin, invading into adjacent normal tissue. The pathogenesis of keloid is complex, and many evidences suggest the influence of genetic factors, among them the polymorphisms of the gene encoding tumor protein p53.
To investigate the association of rs1042522 (c.215G>C, p.Arg72Pro) and rs17878362 (16-bp insertion/duplication in intron 3) variants, two most frequently analyzed functional polymorphisms and the risk of keloid in Polish patients.
The rs1042522 and rs17878362 polymorphisms were identified by sequencing genomic DNA extracted from peripheral blood leukocytes of 86 keloid patients and from cordial blood leukocytes of 100 newborn infants consisting control group.
The rs1042522 and rs17878362 genotype distributions both in keloid patients and in the control group conformed to the expected Hardy-Weinberg equilibrium. No significant differences in the distribution of rs1042522 and rs17878362 alleles or genotypes have been found between keloid patients and newborn controls. There is tight, but not complete, linkage disequilibrium between rs1042522 and rs17878362 polymorphisms (' = 0.667, = 0.448, and =0). No significant differences in the distribution of rs1042522 and rs17878362 haplotypes or diplotypes have been found between keloid patients and newborn controls.
Our results suggest the lack of association of rs1042522 and rs17878362 polymorphisms and their haplotypes or diplotypes with the susceptibility to keloid scarring in Polish patients.
瘢痕疙瘩被定义为一种良性增殖性瘢痕，其生长超出了对皮肤最初损伤的范围，侵入邻近的正常组织。瘢痕疙瘩的发病机制很复杂，许多证据表明遗传因素的影响，其中包括编码肿瘤蛋白p53的基因多态性。
研究rs1042522（c.215G>C，p.Arg72Pro）和rs17878362（内含子3中的16碱基插入/重复）这两个最常分析的功能多态性与波兰患者瘢痕疙瘩风险之间的关联。
通过对86例瘢痕疙瘩患者外周血白细胞和100例新生儿脐带血白细胞（作为对照组）提取的基因组DNA进行测序，鉴定rs1042522和rs17878362多态性。
瘢痕疙瘩患者和对照组中rs1042522和rs17878362的基因型分布均符合预期的哈迪-温伯格平衡。瘢痕疙瘩患者与新生儿对照组之间，rs1042522和rs17878362等位基因或基因型的分布没有显著差异。rs1042522和rs17878362多态性之间存在紧密但不完全的连锁不平衡（'=0.667，=0.448，且=0）。瘢痕疙瘩患者与新生儿对照组之间，rs1042522和rs17878362单倍型或双倍型的分布没有显著差异。
我们的结果表明，在波兰患者中，rs1042522和rs17878362多态性及其单倍型或双倍型与瘢痕疙瘩形成易感性之间缺乏关联。
