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瘦素受体基因多态性与中国汉族人瘢痕疙瘩的相关性研究。

Association of Leptin Receptor Gene Polymorphisms with Keloids in the Chinese Han Population.

机构信息

Department of Dermatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China (mainland).

General Practice Department, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China (mainland).

出版信息

Med Sci Monit. 2021 Mar 7;27:e928503. doi: 10.12659/MSM.928503.

Abstract

BACKGROUND The association between leptin receptor (LEPR) polymorphisms and keloids is still unclear. Our study aimed to explore the association between LEPR gene polymorphisms and keloids in the Chinese Han population. MATERIAL AND METHODS We implemented a case-control study in a cohort of 352 keloid patients and 299 healthy controls to analyze the correlation between 4 SNPs (rs1137101, rs1938496, rs6588147, and rs7555955) and keloids. Genomic DNA was extracted from peripheral blood by using TGuide M16 (Tiangen). Genotyping of LEPR SNPs was performed using an improved multiple ligase detection reaction (iMLDR) by Shanghai Genesky Bio-Tech Co., Ltd. RESULTS We found that patients caring the AA genotype of rs1137101 and the CC genotype rs1938496 tend to have the increased risk of keloids (P=0.026, P=0.047). Carrying the GA, AA gene type, and G allele frequencies of rs7555955, patients were more likely to have to keloids (P=0.030, P=0.016, P=0.018, respectively). There were no significant differences in genotype distribution and allele frequencies of rs6588147 between cases and controls. The association of rs1137101 and rs7555955 under dominant, recessive, and allele models exhibited significant differences among family-history keloid patients, no-family-history keloid groups, and normal controls (χ²=6.471, P=0.039; χ²=6.477, P=0.039; χ²=6.197, P=0.045, respectively). Similarly, the OR of rs1137101 in the recessive model was significantly higher in patients with a family history of keloids than those in controls. Nonetheless, there are significant ORs of rs1938496 and rs6588147 among the mild-moderate keloid, severe keloid, and control groups. CONCLUSIONS The LEPR gene polymorphisms are associated with keloid formation and severity, especially in patients with a positive family history.

摘要

背景

瘦素受体(LEPR)多态性与瘢痕疙瘩之间的关系尚不清楚。本研究旨在探讨中国汉族人群 LEPR 基因多态性与瘢痕疙瘩的关系。

材料和方法

我们进行了一项病例对照研究,纳入了 352 例瘢痕疙瘩患者和 299 例健康对照,以分析 4 个单核苷酸多态性(rs1137101、rs1938496、rs6588147 和 rs7555955)与瘢痕疙瘩的相关性。采用 Tiangen 的 TGuide M16 从外周血中提取基因组 DNA。采用上海基恩斯生物科技有限公司的改良多重连接酶检测反应(iMLDR)对 LEPR SNPs 进行基因分型。

结果

我们发现 rs1137101 的 AA 基因型和 rs1938496 的 CC 基因型的患者发生瘢痕疙瘩的风险增加(P=0.026,P=0.047)。携带 rs7555955 的 GA、AA 基因型和 G 等位基因频率的患者更容易患瘢痕疙瘩(P=0.030,P=0.016,P=0.018)。病例组和对照组 rs6588147 的基因型分布和等位基因频率无显著性差异。在家族性瘢痕疙瘩患者、非家族性瘢痕疙瘩患者和正常对照组中,rs1137101 和 rs7555955 的显性、隐性和等位基因模型的相关性存在显著差异(χ²=6.471,P=0.039;χ²=6.477,P=0.039;χ²=6.197,P=0.045)。同样,rs1137101 隐性模型的 OR 在有家族史的瘢痕疙瘩患者中明显高于对照组。然而,rs1938496 和 rs6588147 的 OR 在轻度-中度瘢痕疙瘩、重度瘢痕疙瘩和对照组中均显著升高。

结论

LEPR 基因多态性与瘢痕疙瘩的形成和严重程度有关,尤其是在有家族史的患者中。

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