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

Merve Akman; Nevin Karakuş; Hüsniye Rüstemoğlu

Article Details

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

Authors:

Merve Akman | Nevin Karakuş | Hüsniye Rüstemoğlu

Publisher:

Cukurova University

Main Topics:

Klinik Tıp Bilimleri

Journal:

Cukurova Medical Journal Vol.48 Issue 2, pp.369-376

Document Type:

Article

Publication Date:

2/2023

Document Language:

English

Document ID (Org No.):

2001286363

pISSN:

2602-3032

Keywords:

Abstract:

 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 -2548GA 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 -2548GA 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 -2548GA 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.

 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 -2548GA 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 -2548GA 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 -2548GA 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.

 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 -2548GA 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 -2548GA 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 -2548GA 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.

 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 -2548GA 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 DNAlar, polimeraz zincir reaksiyonu PCR ile birlikte restriksiyon fragman uzunluk polimorfizmi RFLP teknikleri ile analiz edildi. Bulgular: LEP -2548GA 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 -2548GA 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.

Article Details

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

Authors:

Merve Akman | Nevin Karakuş | Hüsniye Rüstemoğlu

Publisher:

Cukurova University

Main Topics:

Klinik Tıp Bilimleri

Journal:

Cukurova Medical Journal Vol.48 Issue 2, pp.369-376

Document Type:

Article

Publication Date:

2/2023

Document Language:

English

Document ID (Org No.):

2001286363

pISSN:

2602-3032

azoospermic male infertility

LEP

LEPR

rs7799039

rs1137101

Azospermik erkek infetilitesi

LEP

LEPR

rs7799039

rs1137101.

Issues

Article Details

Authors: Merve Akman | Nevin Karakuş | Hüsniye Rüstemoğlu

Publisher: Cukurova University

Main Topics: Klinik Tıp Bilimleri

Journal: Cukurova Medical Journal Vol.48 Issue 2, pp.369-376

Document Type: Article

Publication Date: 2/2023

Document Language: English

Document ID (Org No.): 2001286363

pISSN: 2602-3032

Issues

Authors:

Merve Akman | Nevin Karakuş | Hüsniye Rüstemoğlu

Publisher:

Cukurova University

Main Topics:

Klinik Tıp Bilimleri

Journal:

Cukurova Medical Journal Vol.48 Issue 2, pp.369-376

Document Type:

Article

Publication Date:

2/2023

Document Language:

English

Document ID (Org No.):

2001286363

pISSN:

2602-3032