Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study
Background A role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results. A...
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Veröffentlicht in: | American journal of reproductive immunology (1989) 2023-07, Vol.90 (1), p.e13731-n/a |
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creator | Al‐Awadi, Aminah M. Saldhana, Fabiola Lisa Bauyrzhanova, Zhansaya Nemr, Rita Mahmood, Naeema A. Almawi, Wassim Y. |
description | Background
A role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results.
Aim
To investigate the association of rs34124816 (–537A>C), rs1862513 (–420C>G), rs3219175 (–358G>A), rs3745367 (+299G>A), rs3745369 (+1263G>C), and rs1423096 (+4965C>T) RETN SNPs with PCOS.
Methods
Study subjects included 583 women with PCOS, and 713 eumenorrheic women serving as controls. Genotyping was done by real‐time PCR.
Results
Higher minor allele frequency (MAF) of rs34124816, rs3219175, and rs3745369, and lower MAF of rs1862513 and rs1423096 were seen in PCOS cases. Reduced PCOS risk was found with rs3745367 minor‐allele homozygotes and rs1423096 minor‐allele homozygotes, while increased risk was linked with rs3745367 heterozygotes, and with rs3745369 heterozygotes and minor‐allele homozygotes. While it did not reach statistical significance, serum resistin levels were elevated in PCOS cases than in control women and major‐allele homozygotes of rs34124816 and rs1862513, and in rs1423096 minor‐allele‐containing carriers. Carriage of rs34124816 correlated positively with age and LH, whereas rs1862513 positively and rs3745367 negatively correlated with fasting glucose. Six‐locus (rs34124816‐rs1862513‐rs3219175‐rs3745367‐rs3745369‐rs1423096) haplotype analysis demonstrated a significant reduction in AGGGGG and a marked increase in AGGGCG haplotypes between cases and controls, thus assigning PCOS protective and susceptible nature to these haplotypes, respectively.
Conclusions
This study is the first to document the contribution of rs34124816 and rs1423096 RETN variants to the risk of PCOS. The varied association of RETN gene variants with PCOS suggests an ethnic contribution of RETN association with PCOS. |
doi_str_mv | 10.1111/aji.13731 |
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fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2831298600</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2831298600</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3531-18081907778ff289b048a0ddbdc9b13113bd9571566f0a917c4d2e4efe586453</originalsourceid><addsrcrecordid>eNp1kU2L1TAUhoMozocu_AMScOMsOpPTtE3q7jL4MTIgyOxLmpxKLmlSk3SG_gV_tbneUUEwm4ST5zyc5CXkFbBLKOtK7e0lcMHhCTmFjrGKyV48LWfWdJVomDwhZyntGSt1Lp6Tk8LKGgSckh9f0alsg6dhohGTTdl6-g090nsVrfI50Rz-3ixOpVlRh_foElXeUOUyRjQ0rUnjku1onc3boWkJbtNbadM0FNlG0-ZNDDO-ozuqVUKqg88xOJryarYX5NmkXMKXj_s5ufvw_u76U3X75ePN9e620rzlUIFkEnomhJDTVMt-ZI1UzJjR6H4EDsBH07cC2q6bmOpB6MbU2OCEreyalp-Tt0ftEsP3FVMeZlsmd055DGsaasmh7mX5xoK--QfdhzX6MtyBYm3HOnkQXhwpHUNKEadhiXYu7x2ADYd8hpLP8Cufwr5-NK7jjOYP-TuQAlwdgQfrcPu_adh9vjkqfwJXbJst</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2830560685</pqid></control><display><type>article</type><title>Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Al‐Awadi, Aminah M. ; Saldhana, Fabiola Lisa ; Bauyrzhanova, Zhansaya ; Nemr, Rita ; Mahmood, Naeema A. ; Almawi, Wassim Y.</creator><creatorcontrib>Al‐Awadi, Aminah M. ; Saldhana, Fabiola Lisa ; Bauyrzhanova, Zhansaya ; Nemr, Rita ; Mahmood, Naeema A. ; Almawi, Wassim Y.</creatorcontrib><description>Background
A role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results.
Aim
To investigate the association of rs34124816 (–537A>C), rs1862513 (–420C>G), rs3219175 (–358G>A), rs3745367 (+299G>A), rs3745369 (+1263G>C), and rs1423096 (+4965C>T) RETN SNPs with PCOS.
Methods
Study subjects included 583 women with PCOS, and 713 eumenorrheic women serving as controls. Genotyping was done by real‐time PCR.
Results
Higher minor allele frequency (MAF) of rs34124816, rs3219175, and rs3745369, and lower MAF of rs1862513 and rs1423096 were seen in PCOS cases. Reduced PCOS risk was found with rs3745367 minor‐allele homozygotes and rs1423096 minor‐allele homozygotes, while increased risk was linked with rs3745367 heterozygotes, and with rs3745369 heterozygotes and minor‐allele homozygotes. While it did not reach statistical significance, serum resistin levels were elevated in PCOS cases than in control women and major‐allele homozygotes of rs34124816 and rs1862513, and in rs1423096 minor‐allele‐containing carriers. Carriage of rs34124816 correlated positively with age and LH, whereas rs1862513 positively and rs3745367 negatively correlated with fasting glucose. Six‐locus (rs34124816‐rs1862513‐rs3219175‐rs3745367‐rs3745369‐rs1423096) haplotype analysis demonstrated a significant reduction in AGGGGG and a marked increase in AGGGCG haplotypes between cases and controls, thus assigning PCOS protective and susceptible nature to these haplotypes, respectively.
Conclusions
This study is the first to document the contribution of rs34124816 and rs1423096 RETN variants to the risk of PCOS. The varied association of RETN gene variants with PCOS suggests an ethnic contribution of RETN association with PCOS.</description><identifier>ISSN: 1046-7408</identifier><identifier>EISSN: 1600-0897</identifier><identifier>DOI: 10.1111/aji.13731</identifier><identifier>PMID: 37382171</identifier><language>eng</language><publisher>Denmark: Wiley Subscription Services, Inc</publisher><subject>Alleles ; Case-Control Studies ; Female ; Gene frequency ; genotypes ; Genotyping ; Haplotypes ; Heterozygotes ; Homozygotes ; Humans ; insulin resistance ; Plasma levels ; Polycystic ovary syndrome ; Polycystic Ovary Syndrome - genetics ; Polymorphism, Single Nucleotide ; resistin ; Resistin - genetics ; Single-nucleotide polymorphism</subject><ispartof>American journal of reproductive immunology (1989), 2023-07, Vol.90 (1), p.e13731-n/a</ispartof><rights>2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3531-18081907778ff289b048a0ddbdc9b13113bd9571566f0a917c4d2e4efe586453</citedby><cites>FETCH-LOGICAL-c3531-18081907778ff289b048a0ddbdc9b13113bd9571566f0a917c4d2e4efe586453</cites><orcidid>0000-0003-3772-0813 ; 0000-0003-0932-7504 ; 0000-0003-1633-9757 ; 0000-0002-0859-198X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Faji.13731$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Faji.13731$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37382171$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al‐Awadi, Aminah M.</creatorcontrib><creatorcontrib>Saldhana, Fabiola Lisa</creatorcontrib><creatorcontrib>Bauyrzhanova, Zhansaya</creatorcontrib><creatorcontrib>Nemr, Rita</creatorcontrib><creatorcontrib>Mahmood, Naeema A.</creatorcontrib><creatorcontrib>Almawi, Wassim Y.</creatorcontrib><title>Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study</title><title>American journal of reproductive immunology (1989)</title><addtitle>Am J Reprod Immunol</addtitle><description>Background
A role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results.
Aim
To investigate the association of rs34124816 (–537A>C), rs1862513 (–420C>G), rs3219175 (–358G>A), rs3745367 (+299G>A), rs3745369 (+1263G>C), and rs1423096 (+4965C>T) RETN SNPs with PCOS.
Methods
Study subjects included 583 women with PCOS, and 713 eumenorrheic women serving as controls. Genotyping was done by real‐time PCR.
Results
Higher minor allele frequency (MAF) of rs34124816, rs3219175, and rs3745369, and lower MAF of rs1862513 and rs1423096 were seen in PCOS cases. Reduced PCOS risk was found with rs3745367 minor‐allele homozygotes and rs1423096 minor‐allele homozygotes, while increased risk was linked with rs3745367 heterozygotes, and with rs3745369 heterozygotes and minor‐allele homozygotes. While it did not reach statistical significance, serum resistin levels were elevated in PCOS cases than in control women and major‐allele homozygotes of rs34124816 and rs1862513, and in rs1423096 minor‐allele‐containing carriers. Carriage of rs34124816 correlated positively with age and LH, whereas rs1862513 positively and rs3745367 negatively correlated with fasting glucose. Six‐locus (rs34124816‐rs1862513‐rs3219175‐rs3745367‐rs3745369‐rs1423096) haplotype analysis demonstrated a significant reduction in AGGGGG and a marked increase in AGGGCG haplotypes between cases and controls, thus assigning PCOS protective and susceptible nature to these haplotypes, respectively.
Conclusions
This study is the first to document the contribution of rs34124816 and rs1423096 RETN variants to the risk of PCOS. The varied association of RETN gene variants with PCOS suggests an ethnic contribution of RETN association with PCOS.</description><subject>Alleles</subject><subject>Case-Control Studies</subject><subject>Female</subject><subject>Gene frequency</subject><subject>genotypes</subject><subject>Genotyping</subject><subject>Haplotypes</subject><subject>Heterozygotes</subject><subject>Homozygotes</subject><subject>Humans</subject><subject>insulin resistance</subject><subject>Plasma levels</subject><subject>Polycystic ovary syndrome</subject><subject>Polycystic Ovary Syndrome - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>resistin</subject><subject>Resistin - genetics</subject><subject>Single-nucleotide polymorphism</subject><issn>1046-7408</issn><issn>1600-0897</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kU2L1TAUhoMozocu_AMScOMsOpPTtE3q7jL4MTIgyOxLmpxKLmlSk3SG_gV_tbneUUEwm4ST5zyc5CXkFbBLKOtK7e0lcMHhCTmFjrGKyV48LWfWdJVomDwhZyntGSt1Lp6Tk8LKGgSckh9f0alsg6dhohGTTdl6-g090nsVrfI50Rz-3ixOpVlRh_foElXeUOUyRjQ0rUnjku1onc3boWkJbtNbadM0FNlG0-ZNDDO-ozuqVUKqg88xOJryarYX5NmkXMKXj_s5ufvw_u76U3X75ePN9e620rzlUIFkEnomhJDTVMt-ZI1UzJjR6H4EDsBH07cC2q6bmOpB6MbU2OCEreyalp-Tt0ftEsP3FVMeZlsmd055DGsaasmh7mX5xoK--QfdhzX6MtyBYm3HOnkQXhwpHUNKEadhiXYu7x2ADYd8hpLP8Cufwr5-NK7jjOYP-TuQAlwdgQfrcPu_adh9vjkqfwJXbJst</recordid><startdate>202307</startdate><enddate>202307</enddate><creator>Al‐Awadi, Aminah M.</creator><creator>Saldhana, Fabiola Lisa</creator><creator>Bauyrzhanova, Zhansaya</creator><creator>Nemr, Rita</creator><creator>Mahmood, Naeema A.</creator><creator>Almawi, Wassim Y.</creator><general>Wiley Subscription Services, Inc</general><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>7T5</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3772-0813</orcidid><orcidid>https://orcid.org/0000-0003-0932-7504</orcidid><orcidid>https://orcid.org/0000-0003-1633-9757</orcidid><orcidid>https://orcid.org/0000-0002-0859-198X</orcidid></search><sort><creationdate>202307</creationdate><title>Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study</title><author>Al‐Awadi, Aminah M. ; Saldhana, Fabiola Lisa ; Bauyrzhanova, Zhansaya ; Nemr, Rita ; Mahmood, Naeema A. ; Almawi, Wassim Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3531-18081907778ff289b048a0ddbdc9b13113bd9571566f0a917c4d2e4efe586453</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Alleles</topic><topic>Case-Control Studies</topic><topic>Female</topic><topic>Gene frequency</topic><topic>genotypes</topic><topic>Genotyping</topic><topic>Haplotypes</topic><topic>Heterozygotes</topic><topic>Homozygotes</topic><topic>Humans</topic><topic>insulin resistance</topic><topic>Plasma levels</topic><topic>Polycystic ovary syndrome</topic><topic>Polycystic Ovary Syndrome - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>resistin</topic><topic>Resistin - genetics</topic><topic>Single-nucleotide polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al‐Awadi, Aminah M.</creatorcontrib><creatorcontrib>Saldhana, Fabiola Lisa</creatorcontrib><creatorcontrib>Bauyrzhanova, Zhansaya</creatorcontrib><creatorcontrib>Nemr, Rita</creatorcontrib><creatorcontrib>Mahmood, Naeema A.</creatorcontrib><creatorcontrib>Almawi, Wassim Y.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of reproductive immunology (1989)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al‐Awadi, Aminah M.</au><au>Saldhana, Fabiola Lisa</au><au>Bauyrzhanova, Zhansaya</au><au>Nemr, Rita</au><au>Mahmood, Naeema A.</au><au>Almawi, Wassim Y.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study</atitle><jtitle>American journal of reproductive immunology (1989)</jtitle><addtitle>Am J Reprod Immunol</addtitle><date>2023-07</date><risdate>2023</risdate><volume>90</volume><issue>1</issue><spage>e13731</spage><epage>n/a</epage><pages>e13731-n/a</pages><issn>1046-7408</issn><eissn>1600-0897</eissn><abstract>Background
A role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results.
Aim
To investigate the association of rs34124816 (–537A>C), rs1862513 (–420C>G), rs3219175 (–358G>A), rs3745367 (+299G>A), rs3745369 (+1263G>C), and rs1423096 (+4965C>T) RETN SNPs with PCOS.
Methods
Study subjects included 583 women with PCOS, and 713 eumenorrheic women serving as controls. Genotyping was done by real‐time PCR.
Results
Higher minor allele frequency (MAF) of rs34124816, rs3219175, and rs3745369, and lower MAF of rs1862513 and rs1423096 were seen in PCOS cases. Reduced PCOS risk was found with rs3745367 minor‐allele homozygotes and rs1423096 minor‐allele homozygotes, while increased risk was linked with rs3745367 heterozygotes, and with rs3745369 heterozygotes and minor‐allele homozygotes. While it did not reach statistical significance, serum resistin levels were elevated in PCOS cases than in control women and major‐allele homozygotes of rs34124816 and rs1862513, and in rs1423096 minor‐allele‐containing carriers. Carriage of rs34124816 correlated positively with age and LH, whereas rs1862513 positively and rs3745367 negatively correlated with fasting glucose. Six‐locus (rs34124816‐rs1862513‐rs3219175‐rs3745367‐rs3745369‐rs1423096) haplotype analysis demonstrated a significant reduction in AGGGGG and a marked increase in AGGGCG haplotypes between cases and controls, thus assigning PCOS protective and susceptible nature to these haplotypes, respectively.
Conclusions
This study is the first to document the contribution of rs34124816 and rs1423096 RETN variants to the risk of PCOS. The varied association of RETN gene variants with PCOS suggests an ethnic contribution of RETN association with PCOS.</abstract><cop>Denmark</cop><pub>Wiley Subscription Services, Inc</pub><pmid>37382171</pmid><doi>10.1111/aji.13731</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0003-3772-0813</orcidid><orcidid>https://orcid.org/0000-0003-0932-7504</orcidid><orcidid>https://orcid.org/0000-0003-1633-9757</orcidid><orcidid>https://orcid.org/0000-0002-0859-198X</orcidid></addata></record> |
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source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
subjects | Alleles Case-Control Studies Female Gene frequency genotypes Genotyping Haplotypes Heterozygotes Homozygotes Humans insulin resistance Plasma levels Polycystic ovary syndrome Polycystic Ovary Syndrome - genetics Polymorphism, Single Nucleotide resistin Resistin - genetics Single-nucleotide polymorphism |
title | Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study |
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