Association of the CAG repeat polymorphism in mitochondrial polymerase gamma (POLG1) with male infertility: a case-control study in an Algerian population
), Djalila DC Chellat(2), Noureddine NA Abadi(3), Abdelhamid AS Slama(4), Dalila DS Satta(5),
(1) Laboratoire de biologie moléculaire et cellulaire, Université des frères Mentouri Constantine 1, Constantine, Algérie; Laboratoire de biologie et génétique moléculaire, Centre hospitalo-universitaire Ben-Badis, Université Salah Boubnider Constantine 3, Constantine,
(2) Laboratoire de biologie moléculaire et cellulaire, Université des frères Mentouri Constantine 1, Constantine, Algérie; Laboratoire de biologie et génétique moléculaire, Centre hospitalo-universitaire Ben-Badis, Université Salah Boubnider Constantine 3, Constantine,
(3) Laboratoire de biologie et génétique moléculaire, Centre hospitalo-universitaire Ben-Badis, Université Salah Boubnider Constantine 3, Constantine, Algérie
(4)
(5) Laboratoire de biologie moléculaire et cellulaire, Université des frères Mentouri Constantine 1, Constantine, Algérie; Laboratoire de biologie et génétique moléculaire, Centre hospitalo-universitaire Ben-Badis, Université Salah Boubnider Constantine 3, Constantine,
Corresponding Author
Abstract
Polymorphisms in the mitochondrial DNA polymerase gamma (POLG) have been speculated to be associated with male infertility. The main objective of our study was to assess the possible association of CAG repeat polymorphism in POLG1 gene and male infertility in Algerian population. Genomic DNA from 89 infertile men and 84 controls was extracted using salting-out method. CAG repeat polymorphism was analyzed by the automated direct sequencing protocol. Statistical analysis was performed by Epi-info® (v6.0) software. A significant association with male infertility was found for CAG repeat polymorphism in heterozygous genotypes (10/ ≠ 10 vs 10/10: OR = 2.00 [0.99 - 4.05], p = 0.03; “infertile vs control groups”; 10/≠10 vs 10/10: OR = 3.75 [1.20-11.96], p=0.01 “oligoasthenoteratospermic group”). Also, the results showed a significant association between the morbid allele (≠10) and male infertility (2.07 [01.07 - 04.02], p = 0.01). Our results showed that POLG1 CAG repeat polymorphism might be a risk factor for male infertility in Algerian population. Investigations with larger sample sizes and representative population-based cases and matched controls are needed to validate our results. (Afr J Reprod Health 2021; 25[1]: 67-75).
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