Merve AKMAN, Nevin KARAKUŞ, Hüsniye RÜSTEMOĞLU

Türk popülasyonunda azoospermik erkek infertilitesi için bir risk faktörü olarak LEP -2548G>A (rs7799039) ve LEPR Q223R (rs1137101) polimorfizmlerinin ikili etkisi

Amaç: İnfertilite, korunmasız cinsel ilişkiye rağmen en az bir yıl içerisinde gebelik elde edilememesi durumudur. Erkek kısırlığı, testislerde hiç sperm olmamasından (azospermi) sperm kalitesindeki gözle görülür değişikliklere kadar değişebilir. Leptin (LEP) geninde mutasyon olan hastaların infertil olduğu, Leptin Reseptör (LEPR) geninde mutasyon olan hastaların puberte gelişiminin olmadığı gösterilmiştir. Bu çalışma azospermik erkek infertilitesi ile LEP geni -2548G>A ve LEPR geni Q223R polimorfizmleri arasında bir ilişki olup olmadığını ortaya koymak amacıyla yapılmıştır. Gereç ve Yöntem: Bu çalışmaya 137 azospermik infertil erkek ve 100 fertil erkek dahil edildi. Katılımcıların periferik kanlarından elde edilen DNA'lar, polimeraz zincir reaksiyonu (PCR) ile birlikte restriksiyon fragman uzunluk polimorfizmi (RFLP) teknikleri ile analiz edildi. Bulgular: LEP -2548G>A (rs7799039) ve LEPR Q223R (rs1137101) polimorfizmleri açısından azospermik infertil ve fertil erkeklerin genotip ve alel dağılımlarında istatistiksel olarak dikkat çekici bir farklılık gözlenmedi. Kompozit genotip analizinde GGQR kompozit genotipinin azospermik infertil erkeklerde fertil erkeklere göre yaklaşık 9 kat daha fazla olduğu belirlendi (8.8% vs. 1.0%). Sonuç: LEP -2548G>A ve LEPR Q223R polimorfizmlerinin azospermik erkek infertilitesinde ikili etkiye sahip olabileceği belirlendi. Bu çalışmaların daha geniş popülasyonlarda yapılmasıyla daha etkin ve kesin sonuçlara ulaşılabileceğine inanıyoruz.

Anahtar Kelimeler:

Azospermik erkek infetilitesi, LEP, LEPR, rs7799039, rs1137101.

Dual effect of LEP -2548G>A (rs7799039) and LEPR Q223R (rs1137101) polymorphisms as a risk factor for azoospermic male infertility in Turkish population

Purpose: Infertility is the situation in which pregnancy cannot be achieved despite unprotected sexual intercourse within at least one year. Male infertility can range from the entire absence of spermatozoa in the testicles (azoospermia) to noticeable variations in sperm quality. The patients with a mutation in the leptin (LEP) gene have been reported to be infertile and the patients with a mutation in the Leptin Receptor (LEPR) gene were shown to lack pubertal development. This study was performed to state if there is a relationship between azoospermic male infertility and LEP gene -2548G>A and LEPR gene Q223R polymorphisms. Materials and Methods: One hundred thirty-seven azoospermic infertile men and a hundred fertile men were included in this study. DNAs obtained from peripheral blood of participants were analyzed by polymerase chain reaction (PCR) along with restriction fragment length polymorphism (RFLP) technics.. Results: In terms of LEP -2548G>A (rs7799039) and LEPR Q223R (rs1137101) polymorphisms, no statistically remarkable distinction was observed in the genotype and allele distributions of azoospermic infertile and fertile men. In the composite genotype analysis, it was determined that the GGQR composite genotype was approximately 9 times more common in azoospermic infertile men than in fertile men (8.8% vs. 1.0%). Conclusion: It has been determined that LEP -2548G>A and LEPR Q223R polymorphisms may have a dual effect in azoospermic male infertility. We believe that more efficient and precise results can be obtained by conducting these studies in larger populations.

Keywords:

azoospermic male infertility, LEP, LEPR, rs7799039, rs1137101,

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