Association of Single Nucleotide Polymorphism LEP-R c.668A>G (p.Gln223Arg, rs1137101) of leptin receptor gene with endometrial cancer

BMC Cancer

Hanna Romanowicz¹  Anna Stepowicz²  Jan Bieńkiewicz³  Anna Obłękowska³  Grzegorz Jabłoński³  Miłosz Wilczyński³  Andrzej Malinowski⁴  Beata Smolarz⁵ 

[1] Department of Clinical Pathology, Polish Mother’s Memorial Hospital – Research Institute, Lodz, Poland;Department of Obstetrics, Perinatology and Gynecology, Polish Mother’s Memorial Hospital-Research Institute, Lodz, Poland;Department of Operative Gynecology, Endoscopy and Gynecologic Oncology, Polish Mother’s Memorial Hospital-Research Institute, Lodz, Poland;Department of Operative and Endoscopic Gynecology, Medical University of Lodz, Lodz, Poland;Laboratory of Cancer Genetics, Department of Clinical Pathology, Polish Mother’s Memorial Hospital-Research Institute, Lodz, Poland;

关键词: Single nucleotide polymorphism;    p.Gln223Arg;    LEP-R;    c.668A>G;    rs1137101;    Endometrial cancer;    Uterine leiomyomas;    Uterine fibroids;    Leptin;    Obesity;    Adipokines;   

DOI  :  10.1186/s12885-021-08620-y

来源: Springer

【 摘 要 】

BackgroundThe aim of this study was to analyze the frequencies of genotypes and alleles of Single Nucleotide Polymorphism (SNP) LEP-R c.668A>G (p.Gln223Arg, rs1137101) of leptin receptor gene and to assess the influence this DNA marker has on endometrial cancer (EC) with respect to total body fat content.MethodsThe study comprised 120 patients treated for endometrial cancer and 90 controls treated for uterine fibroids. In total, 210 patients were included in this research. DNA was isolated from archival post-operative specimens. Polymerase Chain Reaction – Restriction Fragment Length Polymorphism was employed to analyze the SNP.ResultsIn this paper we have demonstrated that heterozygous genotype AG of SNP LEP-R c.668A>G (p.Gln223Arg, rs1137101) is statistically less frequent in women with endometrial cancer (EC) than in controls: 33 versus 57%, respectively. Similarly, this heterozygous genotype is statistically significantly less frequent in obese (BMI > 30) women with EC than in lean controls (BMI < 25): 30 versus 63%, respectively.ConclusionsAG polymorphic variant of SNP LEP-R c.668A>G (p.Gln223Arg, rs1137101) in LEP-R may be considered a protective factor in the development of endometrial cancer.

【 授权许可】

CC BY