Association of the CAG repeat polymorphism in mitochondrial polymerase gamma
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...
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| Veröffentlicht in: | African journal of reproductive health 2021-03, Vol.25 (1), p.67 |
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| creator | Rezgoune, Mohamed Larbi MLR Abadi, Noureddine NA Satta, Dalila DS Chellat, Djalila DC Slama, Abdelhamid AS |
| description | 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[R] (v6.0) software. A significant association with male infertility was found for CAG repeat polymorphism in heterozygous genotypes (10/ [not equal to] 10 vs 10/10: OR = 2.00 [0.99 - 4.05], p = 0.03; "infertile vs control groups"; 10/[not equal to]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 ([not equal to]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). Keywords: Infertility, CAG repeat length, Mitochondria, POLG1 gene, sequencing Les polymorphismes de l'ADN polymerase gamma mitochondriale (POLG) ont ete supposes etre associes a l'infertilite masculine. L'objectif principal de notre etude etait d'evaluer l'association possible du polymorphisme de repetition CAG dans le gene POLG1 et l'infertilite masculine dans la population algerienne. L'ADN genomique de 89 hommes steriles et 84 temoins a ete extrait en utilisant la methode de salting-out. Le polymorphisme de repetition CAG a ete analyse par le protocole de sequencage direct automatise. L'analyse statistique a ete realisee par le logiciel Epi-info[R] (v6.0). Une association significative avec l'infertilite masculine a ete trouvee pour le polymorphisme de repetition CAG dans les genotypes heterozygotes (10 / [not equal to] 10 vs 10/10: OR = 2,00 [0,99-4,05], p = 0,03; ; 10 / [not equal to] 10 vs 10/10: OR = 3,75 [1,20-11,96], p = 0,01 ). De plus, les resultats ont montre une association significative entre l'allele morbide ([not equal to] 10) et l'infertilite masculine (2,07 [1.07-4.02], p = 0.01). Nos resultats ont montre que l |
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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[R] (v6.0) software. A significant association with male infertility was found for CAG repeat polymorphism in heterozygous genotypes (10/ [not equal to] 10 vs 10/10: OR = 2.00 [0.99 - 4.05], p = 0.03; "infertile vs control groups"; 10/[not equal to]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 ([not equal to]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). Keywords: Infertility, CAG repeat length, Mitochondria, POLG1 gene, sequencing Les polymorphismes de l'ADN polymerase gamma mitochondriale (POLG) ont ete supposes etre associes a l'infertilite masculine. L'objectif principal de notre etude etait d'evaluer l'association possible du polymorphisme de repetition CAG dans le gene POLG1 et l'infertilite masculine dans la population algerienne. L'ADN genomique de 89 hommes steriles et 84 temoins a ete extrait en utilisant la methode de salting-out. Le polymorphisme de repetition CAG a ete analyse par le protocole de sequencage direct automatise. L'analyse statistique a ete realisee par le logiciel Epi-info[R] (v6.0). Une association significative avec l'infertilite masculine a ete trouvee pour le polymorphisme de repetition CAG dans les genotypes heterozygotes (10 / [not equal to] 10 vs 10/10: OR = 2,00 [0,99-4,05], p = 0,03; <<infertiles vs groupes temoins>>; 10 / [not equal to] 10 vs 10/10: OR = 3,75 [1,20-11,96], p = 0,01 <<groupe oligoasthenoteratospermique>>). De plus, les resultats ont montre une association significative entre l'allele morbide ([not equal to] 10) et l'infertilite masculine (2,07 [1.07-4.02], p = 0.01). Nos resultats ont montre que le polymorphisme repete de POLG1 CAG pourrait etre un facteur de risque d'infertilite masculine dans la population algerienne. Des enquetes avec des echantillons de plus grande taille et des cas representatifs bases sur la population et des temois apparies sont necessaires pour valider nos resultats. (Afr J Reprod Health 2021; 25[1]:67-75). Mots-cles: Infertilite, longueur de repetition CAG, mitochondries, gene POLG1, sequencage</description><identifier>ISSN: 1118-4841</identifier><language>eng</language><publisher>Women's Health and Action Research Centre (WHARC)</publisher><subject>Analysis ; DNA polymerases ; Ethylenediaminetetraacetic acid ; Genes ; Genetic aspects ; Genetic polymorphisms ; Infertility, Male ; Mitochondrial DNA ; Risk factors</subject><ispartof>African journal of reproductive health, 2021-03, Vol.25 (1), p.67</ispartof><rights>COPYRIGHT 2021 Women's Health and Action Research Centre (WHARC)</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781</link.rule.ids></links><search><creatorcontrib>Rezgoune, Mohamed Larbi MLR</creatorcontrib><creatorcontrib>Abadi, Noureddine NA</creatorcontrib><creatorcontrib>Satta, Dalila DS</creatorcontrib><creatorcontrib>Chellat, Djalila DC</creatorcontrib><creatorcontrib>Slama, Abdelhamid AS</creatorcontrib><title>Association of the CAG repeat polymorphism in mitochondrial polymerase gamma</title><title>African journal of reproductive health</title><description>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[R] (v6.0) software. A significant association with male infertility was found for CAG repeat polymorphism in heterozygous genotypes (10/ [not equal to] 10 vs 10/10: OR = 2.00 [0.99 - 4.05], p = 0.03; "infertile vs control groups"; 10/[not equal to]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 ([not equal to]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). Keywords: Infertility, CAG repeat length, Mitochondria, POLG1 gene, sequencing Les polymorphismes de l'ADN polymerase gamma mitochondriale (POLG) ont ete supposes etre associes a l'infertilite masculine. L'objectif principal de notre etude etait d'evaluer l'association possible du polymorphisme de repetition CAG dans le gene POLG1 et l'infertilite masculine dans la population algerienne. L'ADN genomique de 89 hommes steriles et 84 temoins a ete extrait en utilisant la methode de salting-out. Le polymorphisme de repetition CAG a ete analyse par le protocole de sequencage direct automatise. L'analyse statistique a ete realisee par le logiciel Epi-info[R] (v6.0). Une association significative avec l'infertilite masculine a ete trouvee pour le polymorphisme de repetition CAG dans les genotypes heterozygotes (10 / [not equal to] 10 vs 10/10: OR = 2,00 [0,99-4,05], p = 0,03; <<infertiles vs groupes temoins>>; 10 / [not equal to] 10 vs 10/10: OR = 3,75 [1,20-11,96], p = 0,01 <<groupe oligoasthenoteratospermique>>). De plus, les resultats ont montre une association significative entre l'allele morbide ([not equal to] 10) et l'infertilite masculine (2,07 [1.07-4.02], p = 0.01). Nos resultats ont montre que le polymorphisme repete de POLG1 CAG pourrait etre un facteur de risque d'infertilite masculine dans la population algerienne. Des enquetes avec des echantillons de plus grande taille et des cas representatifs bases sur la population et des temois apparies sont necessaires pour valider nos resultats. (Afr J Reprod Health 2021; 25[1]:67-75). Mots-cles: Infertilite, longueur de repetition CAG, mitochondries, gene POLG1, sequencage</description><subject>Analysis</subject><subject>DNA polymerases</subject><subject>Ethylenediaminetetraacetic acid</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic polymorphisms</subject><subject>Infertility, Male</subject><subject>Mitochondrial DNA</subject><subject>Risk factors</subject><issn>1118-4841</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid/><recordid>eNqNjTkOwjAQAF2ARDj-4IouUhycgzKKOApKerQKm9jIzkZeU_B7hOABVFPMSDMTiVKqTnWt1UIsmR9ZlusirxJxaZipsxAtjZJ6GQ3KtjnJgBNClBO5l6cwGcte2lF6G6kzNN6DBfe1GIBRDuA9rMW8B8e4-XEltsfDtT2nAzi8GQQXDZN7fmZ8a8qi0mVe7evd3-EbgOA_ow</recordid><startdate>20210301</startdate><enddate>20210301</enddate><creator>Rezgoune, Mohamed Larbi MLR</creator><creator>Abadi, Noureddine NA</creator><creator>Satta, Dalila DS</creator><creator>Chellat, Djalila DC</creator><creator>Slama, Abdelhamid AS</creator><general>Women's Health and Action Research Centre (WHARC)</general><scope/></search><sort><creationdate>20210301</creationdate><title>Association of the CAG repeat polymorphism in mitochondrial polymerase gamma</title><author>Rezgoune, Mohamed Larbi MLR ; Abadi, Noureddine NA ; Satta, Dalila DS ; Chellat, Djalila DC ; Slama, Abdelhamid AS</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-gale_healthsolutions_A6574627983</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Analysis</topic><topic>DNA polymerases</topic><topic>Ethylenediaminetetraacetic acid</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic polymorphisms</topic><topic>Infertility, Male</topic><topic>Mitochondrial DNA</topic><topic>Risk factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rezgoune, Mohamed Larbi MLR</creatorcontrib><creatorcontrib>Abadi, Noureddine NA</creatorcontrib><creatorcontrib>Satta, Dalila DS</creatorcontrib><creatorcontrib>Chellat, Djalila DC</creatorcontrib><creatorcontrib>Slama, Abdelhamid AS</creatorcontrib><jtitle>African journal of reproductive health</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rezgoune, Mohamed Larbi MLR</au><au>Abadi, Noureddine NA</au><au>Satta, Dalila DS</au><au>Chellat, Djalila DC</au><au>Slama, Abdelhamid AS</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of the CAG repeat polymorphism in mitochondrial polymerase gamma</atitle><jtitle>African journal of reproductive health</jtitle><date>2021-03-01</date><risdate>2021</risdate><volume>25</volume><issue>1</issue><spage>67</spage><pages>67-</pages><issn>1118-4841</issn><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[R] (v6.0) software. A significant association with male infertility was found for CAG repeat polymorphism in heterozygous genotypes (10/ [not equal to] 10 vs 10/10: OR = 2.00 [0.99 - 4.05], p = 0.03; "infertile vs control groups"; 10/[not equal to]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 ([not equal to]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). Keywords: Infertility, CAG repeat length, Mitochondria, POLG1 gene, sequencing Les polymorphismes de l'ADN polymerase gamma mitochondriale (POLG) ont ete supposes etre associes a l'infertilite masculine. L'objectif principal de notre etude etait d'evaluer l'association possible du polymorphisme de repetition CAG dans le gene POLG1 et l'infertilite masculine dans la population algerienne. L'ADN genomique de 89 hommes steriles et 84 temoins a ete extrait en utilisant la methode de salting-out. Le polymorphisme de repetition CAG a ete analyse par le protocole de sequencage direct automatise. L'analyse statistique a ete realisee par le logiciel Epi-info[R] (v6.0). Une association significative avec l'infertilite masculine a ete trouvee pour le polymorphisme de repetition CAG dans les genotypes heterozygotes (10 / [not equal to] 10 vs 10/10: OR = 2,00 [0,99-4,05], p = 0,03; <<infertiles vs groupes temoins>>; 10 / [not equal to] 10 vs 10/10: OR = 3,75 [1,20-11,96], p = 0,01 <<groupe oligoasthenoteratospermique>>). De plus, les resultats ont montre une association significative entre l'allele morbide ([not equal to] 10) et l'infertilite masculine (2,07 [1.07-4.02], p = 0.01). Nos resultats ont montre que le polymorphisme repete de POLG1 CAG pourrait etre un facteur de risque d'infertilite masculine dans la population algerienne. Des enquetes avec des echantillons de plus grande taille et des cas representatifs bases sur la population et des temois apparies sont necessaires pour valider nos resultats. (Afr J Reprod Health 2021; 25[1]:67-75). Mots-cles: Infertilite, longueur de repetition CAG, mitochondries, gene POLG1, sequencage</abstract><pub>Women's Health and Action Research Centre (WHARC)</pub></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Jstor Complete Legacy; African Journals Online (Open Access); Bioline International |
| subjects | Analysis DNA polymerases Ethylenediaminetetraacetic acid Genes Genetic aspects Genetic polymorphisms Infertility, Male Mitochondrial DNA Risk factors |
| title | Association of the CAG repeat polymorphism in mitochondrial polymerase gamma |
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