A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8
Background An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30–40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. Ho...
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creator | Saleh Jaweesh, Mayyas Hammadeh, Mohamad Eid Dahadhah, Fatina W. Al Smadi, Mohammad A. Al Zoubi, Mazhar Salim Alarjah, Manal Issam Abu Amor, Houda |
description | Background
An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30–40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. However, genetic factors result in up to 15% of male infertility cases. The present study aimed to analyze the possible correlations between sub-fertility and polymorphisms in sperm mitochondrial CO3, ATP6 and ATP8 genes in sub-fertile men.
Methods and results
For 67 sub-fertile and 44 fertile male samples, Sanger sequencing of selected mitochondrial DNA genes was done. A total of twelve SNPs in the MT-CO3 gene: rs2248727, rs7520428, rs3134801, rs9743, rs28358272, rs2853824, rs2856985, rs2854139, rs41347846, rs28380140, rs3902407, and 28,411,821, fourteen SNPs in the MT-ATP6: rs2001031, rs2000975, rs2298011, rs7520428, rs9645429, rs112660509, rs6650105, rs6594033, rs6594034, rs6594035, rs3020563, rs28358887, rs2096044, and rs9283154, and ten SNPs in the MT-ATP8: rs9285835, rs9285836, rs9283154, rs8179289, rs121434446, rs1116906, rs2153588, rs1116905, rs1116907, and rs3020563 were detected in the case and control groups at different nucleotide positions. Only the rs7520428 in the MT-CO3 and MT-ATP6 showed a statistically significant difference between sub-fertile and fertile groups in the genotype’s and allele’s frequency test (P |
doi_str_mv | 10.1007/s11033-022-07884-2 |
format | Article |
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An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30–40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. However, genetic factors result in up to 15% of male infertility cases. The present study aimed to analyze the possible correlations between sub-fertility and polymorphisms in sperm mitochondrial CO3, ATP6 and ATP8 genes in sub-fertile men.
Methods and results
For 67 sub-fertile and 44 fertile male samples, Sanger sequencing of selected mitochondrial DNA genes was done. A total of twelve SNPs in the MT-CO3 gene: rs2248727, rs7520428, rs3134801, rs9743, rs28358272, rs2853824, rs2856985, rs2854139, rs41347846, rs28380140, rs3902407, and 28,411,821, fourteen SNPs in the MT-ATP6: rs2001031, rs2000975, rs2298011, rs7520428, rs9645429, rs112660509, rs6650105, rs6594033, rs6594034, rs6594035, rs3020563, rs28358887, rs2096044, and rs9283154, and ten SNPs in the MT-ATP8: rs9285835, rs9285836, rs9283154, rs8179289, rs121434446, rs1116906, rs2153588, rs1116905, rs1116907, and rs3020563 were detected in the case and control groups at different nucleotide positions. Only the rs7520428 in the MT-CO3 and MT-ATP6 showed a statistically significant difference between sub-fertile and fertile groups in the genotype’s and allele’s frequency test (P < 0.0001 for both).
Conclusion
The results of our study suggest that male sub-fertility is linked with rs7520428 SNP in MT-CO3 and MT-ATP6. The studied polymorphic variations in the MT-ATP8 gene, on the contrary, did not reveal any significant association with male sub-fertility.</description><identifier>ISSN: 0301-4851</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-022-07884-2</identifier><identifier>PMID: 36066780</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>alleles ; Animal Anatomy ; Animal Biochemistry ; ATP8 gene ; Biomedical and Life Sciences ; DNA sequencing ; DNA, Mitochondrial - genetics ; Female ; Fertility ; Gene frequency ; Genes ; Genes, Mitochondrial ; Genetic factors ; genotype ; Histology ; Humans ; Infertility ; Infertility, Male - genetics ; Life Sciences ; Male ; male fertility ; male sterility ; Males ; mitochondria ; Mitochondrial DNA ; Mitochondrial Proton-Translocating ATPases - genetics ; Morphology ; Original ; Original Article ; Polymorphism, Single Nucleotide - genetics ; Semen - metabolism ; Single-nucleotide polymorphism ; Sperm ; spermatogenesis ; spermatozoa ; Spermatozoa - metabolism ; Statistical analysis ; women</subject><ispartof>Molecular biology reports, 2022-11, Vol.49 (11), p.10229-10238</ispartof><rights>The Author(s) 2022</rights><rights>2022. The Author(s).</rights><rights>The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c507t-5d8607d2f749a2748524e1aefeb707d2607f686b9cc9432b0582222d0c1b9d143</citedby><cites>FETCH-LOGICAL-c507t-5d8607d2f749a2748524e1aefeb707d2607f686b9cc9432b0582222d0c1b9d143</cites><orcidid>0000-0003-0248-4777</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11033-022-07884-2$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-022-07884-2$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,777,781,882,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36066780$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Saleh Jaweesh, Mayyas</creatorcontrib><creatorcontrib>Hammadeh, Mohamad Eid</creatorcontrib><creatorcontrib>Dahadhah, Fatina W.</creatorcontrib><creatorcontrib>Al Smadi, Mohammad A.</creatorcontrib><creatorcontrib>Al Zoubi, Mazhar Salim</creatorcontrib><creatorcontrib>Alarjah, Manal Issam Abu</creatorcontrib><creatorcontrib>Amor, Houda</creatorcontrib><title>A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>Background
An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30–40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. However, genetic factors result in up to 15% of male infertility cases. The present study aimed to analyze the possible correlations between sub-fertility and polymorphisms in sperm mitochondrial CO3, ATP6 and ATP8 genes in sub-fertile men.
Methods and results
For 67 sub-fertile and 44 fertile male samples, Sanger sequencing of selected mitochondrial DNA genes was done. A total of twelve SNPs in the MT-CO3 gene: rs2248727, rs7520428, rs3134801, rs9743, rs28358272, rs2853824, rs2856985, rs2854139, rs41347846, rs28380140, rs3902407, and 28,411,821, fourteen SNPs in the MT-ATP6: rs2001031, rs2000975, rs2298011, rs7520428, rs9645429, rs112660509, rs6650105, rs6594033, rs6594034, rs6594035, rs3020563, rs28358887, rs2096044, and rs9283154, and ten SNPs in the MT-ATP8: rs9285835, rs9285836, rs9283154, rs8179289, rs121434446, rs1116906, rs2153588, rs1116905, rs1116907, and rs3020563 were detected in the case and control groups at different nucleotide positions. Only the rs7520428 in the MT-CO3 and MT-ATP6 showed a statistically significant difference between sub-fertile and fertile groups in the genotype’s and allele’s frequency test (P < 0.0001 for both).
Conclusion
The results of our study suggest that male sub-fertility is linked with rs7520428 SNP in MT-CO3 and MT-ATP6. The studied polymorphic variations in the MT-ATP8 gene, on the contrary, did not reveal any significant association with male sub-fertility.</description><subject>alleles</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>ATP8 gene</subject><subject>Biomedical and Life Sciences</subject><subject>DNA sequencing</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Female</subject><subject>Fertility</subject><subject>Gene frequency</subject><subject>Genes</subject><subject>Genes, Mitochondrial</subject><subject>Genetic factors</subject><subject>genotype</subject><subject>Histology</subject><subject>Humans</subject><subject>Infertility</subject><subject>Infertility, Male - genetics</subject><subject>Life Sciences</subject><subject>Male</subject><subject>male fertility</subject><subject>male sterility</subject><subject>Males</subject><subject>mitochondria</subject><subject>Mitochondrial DNA</subject><subject>Mitochondrial Proton-Translocating ATPases - genetics</subject><subject>Morphology</subject><subject>Original</subject><subject>Original Article</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Semen - metabolism</subject><subject>Single-nucleotide polymorphism</subject><subject>Sperm</subject><subject>spermatogenesis</subject><subject>spermatozoa</subject><subject>Spermatozoa - metabolism</subject><subject>Statistical analysis</subject><subject>women</subject><issn>0301-4851</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFksuOFCEUhitG47SjL-DCkLhxIQrUBWpj0ul4S8aMi3ZNKOpUNyMFJVCafpN53KG7xvGyUDaHcL7zwzn8RfGUkleUEP46UkrKEhPGMOFCVJjdK1a05iWuWi7uFytSEoorUdOz4lGMV4SQivL6YXFWNqRpuCCr4nqNrNJfkR-QQj0MxpkESPsQwKpkvEMdpB8ADo3KAopzhwcIyViTDki5HkXjdjnhZm3BJ9MDmrw9jD5MexPHiIxDcYIwotEkr_fe9cEoi3bgIKJPW7y5LF8e43r7uTkJLnvxuHgwKBvhyW08L768e7vdfMAXl-8_btYXWNeEJ1z3oiG8ZwOvWsV4bpZVQBUM0PHjeU4OjWi6Vuu2KllHasHy6ommXdvTqjwv3iy609yN0GtwKSgrp2BGFQ7SKyP_zDizlzv_XbYNFRWvs8CLW4Hgv80QkxxN1GCtcuDnKJmoWiHy3Mn_UU5J27RZN6PP_0Kv_BxcnkSm8rdy0Z4otlA6-BgDDHfvpkQePSIXj8jsEXnyiGS56NnvHd-V_DRFBsoFiDnldhB-3f0P2Ru8R8cB</recordid><startdate>20221101</startdate><enddate>20221101</enddate><creator>Saleh Jaweesh, Mayyas</creator><creator>Hammadeh, Mohamad Eid</creator><creator>Dahadhah, Fatina W.</creator><creator>Al Smadi, Mohammad A.</creator><creator>Al Zoubi, Mazhar Salim</creator><creator>Alarjah, Manal Issam Abu</creator><creator>Amor, Houda</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-0248-4777</orcidid></search><sort><creationdate>20221101</creationdate><title>A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8</title><author>Saleh Jaweesh, Mayyas ; Hammadeh, Mohamad Eid ; Dahadhah, Fatina W. ; Al Smadi, Mohammad A. ; Al Zoubi, Mazhar Salim ; Alarjah, Manal Issam Abu ; Amor, Houda</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c507t-5d8607d2f749a2748524e1aefeb707d2607f686b9cc9432b0582222d0c1b9d143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>alleles</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>ATP8 gene</topic><topic>Biomedical and Life Sciences</topic><topic>DNA sequencing</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Female</topic><topic>Fertility</topic><topic>Gene frequency</topic><topic>Genes</topic><topic>Genes, Mitochondrial</topic><topic>Genetic factors</topic><topic>genotype</topic><topic>Histology</topic><topic>Humans</topic><topic>Infertility</topic><topic>Infertility, Male - genetics</topic><topic>Life Sciences</topic><topic>Male</topic><topic>male fertility</topic><topic>male sterility</topic><topic>Males</topic><topic>mitochondria</topic><topic>Mitochondrial DNA</topic><topic>Mitochondrial Proton-Translocating ATPases - genetics</topic><topic>Morphology</topic><topic>Original</topic><topic>Original Article</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Semen - metabolism</topic><topic>Single-nucleotide polymorphism</topic><topic>Sperm</topic><topic>spermatogenesis</topic><topic>spermatozoa</topic><topic>Spermatozoa - metabolism</topic><topic>Statistical analysis</topic><topic>women</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saleh Jaweesh, Mayyas</creatorcontrib><creatorcontrib>Hammadeh, Mohamad Eid</creatorcontrib><creatorcontrib>Dahadhah, Fatina W.</creatorcontrib><creatorcontrib>Al Smadi, Mohammad A.</creatorcontrib><creatorcontrib>Al Zoubi, Mazhar Salim</creatorcontrib><creatorcontrib>Alarjah, Manal Issam Abu</creatorcontrib><creatorcontrib>Amor, Houda</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>AGRICOLA</collection><collection>AGRICOLA - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Saleh Jaweesh, Mayyas</au><au>Hammadeh, Mohamad Eid</au><au>Dahadhah, Fatina W.</au><au>Al Smadi, Mohammad A.</au><au>Al Zoubi, Mazhar Salim</au><au>Alarjah, Manal Issam Abu</au><au>Amor, Houda</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2022-11-01</date><risdate>2022</risdate><volume>49</volume><issue>11</issue><spage>10229</spage><epage>10238</epage><pages>10229-10238</pages><issn>0301-4851</issn><eissn>1573-4978</eissn><abstract>Background
An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30–40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. However, genetic factors result in up to 15% of male infertility cases. The present study aimed to analyze the possible correlations between sub-fertility and polymorphisms in sperm mitochondrial CO3, ATP6 and ATP8 genes in sub-fertile men.
Methods and results
For 67 sub-fertile and 44 fertile male samples, Sanger sequencing of selected mitochondrial DNA genes was done. A total of twelve SNPs in the MT-CO3 gene: rs2248727, rs7520428, rs3134801, rs9743, rs28358272, rs2853824, rs2856985, rs2854139, rs41347846, rs28380140, rs3902407, and 28,411,821, fourteen SNPs in the MT-ATP6: rs2001031, rs2000975, rs2298011, rs7520428, rs9645429, rs112660509, rs6650105, rs6594033, rs6594034, rs6594035, rs3020563, rs28358887, rs2096044, and rs9283154, and ten SNPs in the MT-ATP8: rs9285835, rs9285836, rs9283154, rs8179289, rs121434446, rs1116906, rs2153588, rs1116905, rs1116907, and rs3020563 were detected in the case and control groups at different nucleotide positions. Only the rs7520428 in the MT-CO3 and MT-ATP6 showed a statistically significant difference between sub-fertile and fertile groups in the genotype’s and allele’s frequency test (P < 0.0001 for both).
Conclusion
The results of our study suggest that male sub-fertility is linked with rs7520428 SNP in MT-CO3 and MT-ATP6. The studied polymorphic variations in the MT-ATP8 gene, on the contrary, did not reveal any significant association with male sub-fertility.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>36066780</pmid><doi>10.1007/s11033-022-07884-2</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0003-0248-4777</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | alleles Animal Anatomy Animal Biochemistry ATP8 gene Biomedical and Life Sciences DNA sequencing DNA, Mitochondrial - genetics Female Fertility Gene frequency Genes Genes, Mitochondrial Genetic factors genotype Histology Humans Infertility Infertility, Male - genetics Life Sciences Male male fertility male sterility Males mitochondria Mitochondrial DNA Mitochondrial Proton-Translocating ATPases - genetics Morphology Original Original Article Polymorphism, Single Nucleotide - genetics Semen - metabolism Single-nucleotide polymorphism Sperm spermatogenesis spermatozoa Spermatozoa - metabolism Statistical analysis women |
title | A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8 |
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