Association of infertility and methylenetetrahydrofolate reductase genotypes in Turkish couples

Halil İbrahim Pazarbaşı; Bertan Yılmaz; İbrahim Ferhat Ürünsak; Nurşen Keser; Hatice Korkmaz Güvenmez

doi:10.17826/cumj.1193382

EN TR

Association of infertility and methylenetetrahydrofolate reductase genotypes in Turkish couples

Abstract

Purpose: Infertility is described as unexplained when all of the tests of a basic infertility evaluation return within normal limits and present in 15% of infertile couples. Some studies indicate that there is an association between methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) mutations and unexplained infertility in male or female grown adults. The objective of this study was to analyze the distributions of MTHFR’s C677T and A1298C genotypes in couples with unexplained fertility problems (UFP) and healthy controls. Materials and Methods: Two common variants C677T and A1298C of the MTHFR gene were screened in infertile couples (n =60 for C677T polymorphism; n=62 for A1298C polymorphism) and controls from the Cukurova region of Turkey. C677T and A1298C mutations in the MTHFR gene were detected by the SNP analysis (Fragment analysis) kit of the multiplex PCR amplification/ligation products. Homocysteine levels (in serum) were determined by the human hcy ELISA kit and folate values were determined by the Beckman coulter Unicel DxI 800 chemiluminescence test kit at the Central Laboratory of Balcali Hospital in Cukurova University. Results: In this study, an association between unexplained infertility and MTHFR C677T polymorphism was not found. However, we found an association between MTHFR A1298C polymorphism and males with UFP (%7) and controls (%19). A statistically significant difference was observed between the infertile and control groups regarding i) the folate and homocysteine values of MTHFR C677T heterozygous individuals; ii) the homocysteine values of the MTHFR C677T normal individuals; iii) the homocysteine values of MTHFR A1298C heterozygous, normal and homozygous individuals; iv) the MTHFR C677T heterozygous and normal individuals; v) the homocysteine values of MTHFR C677T normal individuals; vi) the folate values of the MTHFR A1298C heterozygous and normal individuals. Conclusion: The etiopathogenesis of unexplained infertility remains largely unexplored. However, the relationship of the folate/homocysteine findings with the MTHFR polymorphisms under study is not clear. The results of our study support a relationship between the MTHFR A1298C polymorphism and male fertility problems.

Keywords

Unexplained infertility , MTHFR polymorphisms , A1298C , C677T , folate metabolism

Türk çiftlerde infertilite ve metilentetrahidrofolat redüktaz genotipleri arasındaki ilişki

Öz

Amaç: Açıklanamayan infertilite, infertil çiftlerin %15’inde görülen ve konvansiyonel tetkiklerle sebebi tespit edilemeyen bir durumdur. Literatürde, erkek veya kadınlarda methylentetrahydrofolate reductase gen polimorfizmleri (MTHFR C677T ve A1298C) ve açıklanamayan kısırlık arasında ilişki bulunduğunu gösteren çalışmalar mevcuttur. Çalışmamızda MTHFR genindeki C677T ve A1298C polimorfizmleri ile açıklanamayan infertilite arasındaki ilişkinin araştırılması amaçlanmıştır. Gereç ve Yöntem: Açıklanamayan infertilite tanısı alan çiftler ve sağlıklı kontrollerde MTHFR geninin iki yaygın polimorfizmi (C677T polimorfizmi için n=57 birey; A1298C polimorfizmi için n=62 birey) multiplex PCR amplifikasyon/ligasyon ürünlerinin SNP (Tek nükleotid polimorfizmi) analizi yöntemi ile çalışılmıştır. Çukurova Üniversitesi, Balcalı Hastanesi Merkez Laboratuvarında homosistein düzeyleri (serumda) human hcy ELISA kiti ile, folat değerleri ise Beckman coulter Unicel DxI 800 kemilüminesans test kiti ile belirlendi. Bulgular: Çalışmamızda, açıklanamayan infertilite ve kontrol gruplarında kadın ve erkek cinsiyetleri arasında MTHFR C677T polimorfizminin genotip ve allel sıklığı açısından istatistiksel olarak anlamlı bir fark bulunmamıştır. A1298C polimorfizmi açısından CC genotip oranlarının açıklanamayan infertilite tanısı almış erkeklerde (%7) kontrol (%19) grubuna göre daha düşük ve istatistiki olarak anlamlı olduğu bulunmuştur. İnfertil ve kontrol grupları arasında serum folik asit ve homosistein düzeyleri karşılaştırıldığında; MTHFR C677T heterozigot bireylerin folat ve homosistein değerleri arasında; MTHFR C677T normal bireylerin homosistein değerleri arasında; MTHFR A1298C heterozigot, normal ve homozigot bireylerin homosistein değerleri arasında; kadın infertil ve kontrol gruplarında MTHFR C677T heterozigot ve normal bireylerin folat değerleri arasında; MTHFR C677T normal bireylerin homosistein değerleri arasında; MTHFR A1298C heterozigot ve normal bireylerin folat değerleri arasında istatistiki olarak önemli fark bulunmuştur. Sonuç: Açıklanamayan infertilitenin etyopatogenezinde hala bilinmeyen noktalar bulunmaktadır. Folat/homosistein bulgularının çalışılan polimorfizmler ile ilişkisi net değildir. Çalışmamızın sonuçları, MTHFR A1298C polimorfizmi ve erkek fertilite problemleri arasındaki ilişkiyi desteklemektedir.

Anahtar Kelimeler

Açıklanamayan infertilite , MTHFR polimorfizmleri , A1298C , C677T , Folat metabolizması

Kaynakça

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Ayrıntılar

Birincil Dil

İngilizce

Konular

Klinik Tıp Bilimleri

Bölüm

Araştırma Makalesi

Yazarlar

Halil İbrahim Pazarbaşı ^*
0000-0002-0945-3861
Türkiye

Bertan Yılmaz
0000-0001-5558-3299
Türkiye

İbrahim Ferhat Ürünsak
0000-0002-4056-6434
Türkiye

Nurşen Keser
0000-0002-9683-1567
Türkiye

Hatice Korkmaz Güvenmez
0000-0002-2458-1546
Türkiye

Yayımlanma Tarihi

31 Mart 2023

Gönderilme Tarihi

23 Ekim 2022

Kabul Tarihi

11 Ocak 2023

Yayımlandığı Sayı

Yıl 2023 Cilt: 48 Sayı: 1

DOI

https://doi.org/10.17826/cumj.1193382

IZ

https://izlik.org/JA54ZG49ZW

MLA

Pazarbaşı, Halil İbrahim, vd. “Association of infertility and methylenetetrahydrofolate reductase genotypes in Turkish couples”. Cukurova Medical Journal, c. 48, sy 1, Mart 2023, ss. 117-26, doi:10.17826/cumj.1193382.

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Association of infertility and methylenetetrahydrofolate reductase genotypes in Turkish couples

Abstract

Keywords

Türk çiftlerde infertilite ve metilentetrahidrofolat redüktaz genotipleri arasındaki ilişki

Öz

Anahtar Kelimeler

Kaynakça

Ayrıntılar

Birincil Dil

Konular

Bölüm

Yazarlar

Yayımlanma Tarihi

Gönderilme Tarihi

Kabul Tarihi

Yayımlandığı Sayı

DOI

IZ

Kaynak Göster