Association of TNF-α Gene Polymorphisms with the Occurrence of Uterine Leiomyoma

Abstract

Purpose: To investigate the association between the occurrence of uterine leiomyoma and two SNPs of the TNF-α-308 and TNF-α-863 genes. Material and Methods: Prospective case control study with 121 women with clinically and surgically diagnosed uterine leiomyoma and 246 controls. Genotyping was performed by polymerase chain reaction (PCR) based amplification of TNF-α-308 and TNF-α-863 genes, and restriction fragment length polymorphism (RFLP) analysis. Results: Comparing women with uterine leiomyoma and controls, we demonstrate statistically significant differences of genotype distribution for the TNF-α-308 polymorphism (p = 0.043). Concerning allele frequency we did not find any association (p = 0.13). Furthermore, for the TNF-α-863 polymorphism we also found a significant difference concerning genotype distribution (p = 0.044). However, for allele frequency, only borderline significance was observed (p = 0.058). Conclusion: We conclude that TNF-α-308 and TNF-α-863 SNPs are associated with uterine leiomyoma in a Caucasian population and may contribute to the understanding of the pathogenic mechanisms of uterine leiomyoma.

Zusammenfassung

Fragestellung: Diese Studie wurde durchgeführt, um den Zusammenhang vom Auftreten von Leiomyomen des Uterus und zwei SNPs der TNF-α-308- und TNF-α-863-Gene zu untersuchen. Material und Methoden: Prospektive Fall-Kontroll-Studie mit 121 Frauen mit klinisch und histologisch diagnostizierten Leiomyomen des Uterus und 246 Kontrollen. Das Genotyping wurde mittels polymerase chain reaction (PCR)-basierter Amplifikation der TNF-α-308- und TNF-α-863-Gene sowie Analyse von Restriktion-Fragmentlängen-Polymorphismen (RFLP) durchgeführt. Ergebnisse: Der Vergleich von Frauen mit Leiomyomen des Uterus und Kontrollen ergab einen statistisch signifikanten Unterschied der Genotypverteilung des TNF-α-308-Polymorphismus (p = 0,043). Bezüglich der Allelhäufigkeit konnte kein signifikanter Zusammenhang nachgewiesen werden (p = 0,13). Des Weiteren zeigte sich auch ein signifikanter Unterschied der Genotypverteilung des TNF-α-863-Polymorphismus (p = 0,044). Für die Allelhäufigkeit konnte jedoch nur ein nicht signifikanter Trend beobachtet werden (p = 0,058). Schlussfolgerung: Wir schlussfolgern, dass die SNPs von TNF-α-308 und TNF-α-863 in einer kaukasischen Population mit dem Auftreten von Leiomyomen des Uterus assoziiert sind, was zum molekularen Verständnis der Pathogenese uteriner Leiomyome beiträgt.

Key words

Leiomyoma - polymorphism - TNF‐α‐308 - TNF‐α‐863

Schlüsselwörter

Leiomyome - Polymorphismus - TNF‐α‐308 - TNF‐α‐863

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