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The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism
The objective of the current study is to explore the association of thyroid-stimulating hormone receptor ( TSHR ) rs1991517 polymorphism (c.2337 C > G, p.D727E) with congenital hypothyroidism (CH) through a case–control study followed by a meta-analysis. The case–control study was based on 45 CH...
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| Published in: | 3 Biotech 2020-06, Vol.10 (6), p.285-285, Article 285 |
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| creator | Kollati, Yedukondalu Akella, Radha Rama Devi Naushad, Shaik Mohammad Thalla, Maunika Reddy, G Bhanuprakash Dirisala, Vijaya R. |
| description | The objective of the current study is to explore the association of thyroid-stimulating hormone receptor (
TSHR
) rs1991517 polymorphism (c.2337 C > G, p.D727E) with congenital hypothyroidism (CH) through a case–control study followed by a meta-analysis. The case–control study was based on 45 CH subjects and 700 healthy controls. Meta-analysis comprised of seven published studies and our current findings (1044 CH cases and 1649 healthy controls). The allele contrast model showed that the presence of G- allele increased CH risk by 45% (OR: 1.45, 95% CI 1.20–1.76) and 41% (OR: 1.41, 95% CI 1.03–1.93) in fixed effect and random effect models, respectively. The GG- genotype is associated with 2.3-fold (95% CI 1.32–3.99) increased risk for CH in the fixed-effect model.
I
2
(0.58) and Cochran’s
Q
test (
Q
: 16.72,
p
= 0.02) revealed evidence of heterogeneity in the association. No publication bias was observed by Egger’s test (
p
= 0.70). Sensitivity analysis revealed that even after excluding any study this polymorphism is associated with risk for CH. The rs1991517 mutation alters the binding affinity to cAMP (ΔG of 727D vs.727E: − 7.27 vs. − 7.34 kcal/mol). In conclusion, rs1991517 is a genetic risk factor for CH and exerts its impact by altering cAMP-mediated signal transduction. |
| doi_str_mv | 10.1007/s13205-020-02273-7 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7266893</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2414734032</sourcerecordid><originalsourceid>FETCH-LOGICAL-c474t-13e722bbad68fc5db0c2cd4d00cf8eef8b333d0f387097748d7fb39468f5bae03</originalsourceid><addsrcrecordid>eNp9kV1rFTEQhoMottT-gV5IwBtvtk6-TrI3ghS1QkGECr0L2WzSTd3drMke4fx7p556_LhoYEhgnnknMy8hZwzOGYB-U5ngoBrggMG1aPQTcsxZC43Swjw9vPnNETmt9Q7wKKZaBs_JkeBKAQN5TL5cD4GWytqWKabpksfdlMsypDrRVKmjt2EOa_K0pPqNRufXXGjE8HnGVFrdSIfdktdhV3LqsewFeRbdWMPpw31Cvn54f31x2Vx9_vjp4t1V46WWa8NE0Jx3nes3JnrVd-C572UP4KMJIZpOCNFDFEZDq7U0vY6daCXSqnMBxAl5u9ddtt0Ueh_mtbjRLiVNruxsdsn-m5nTYG_zD6v5ZmNagQKvHwRK_r4NdbVTqj6Mo5tD3lbLJZNaSBAc0Vf_oXd5W2YcDykwZqNxf0jxPeVLrrWEePgMA3tvmt2bZtE0-8s0q7Ho5d9jHEp-W4SA2AMVU7jz8qf3I7I_AROMooU</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2408867991</pqid></control><display><type>article</type><title>The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism</title><source>Springer Link</source><source>PubMed Central</source><creator>Kollati, Yedukondalu ; Akella, Radha Rama Devi ; Naushad, Shaik Mohammad ; Thalla, Maunika ; Reddy, G Bhanuprakash ; Dirisala, Vijaya R.</creator><creatorcontrib>Kollati, Yedukondalu ; Akella, Radha Rama Devi ; Naushad, Shaik Mohammad ; Thalla, Maunika ; Reddy, G Bhanuprakash ; Dirisala, Vijaya R.</creatorcontrib><description>The objective of the current study is to explore the association of thyroid-stimulating hormone receptor (
TSHR
) rs1991517 polymorphism (c.2337 C > G, p.D727E) with congenital hypothyroidism (CH) through a case–control study followed by a meta-analysis. The case–control study was based on 45 CH subjects and 700 healthy controls. Meta-analysis comprised of seven published studies and our current findings (1044 CH cases and 1649 healthy controls). The allele contrast model showed that the presence of G- allele increased CH risk by 45% (OR: 1.45, 95% CI 1.20–1.76) and 41% (OR: 1.41, 95% CI 1.03–1.93) in fixed effect and random effect models, respectively. The GG- genotype is associated with 2.3-fold (95% CI 1.32–3.99) increased risk for CH in the fixed-effect model.
I
2
(0.58) and Cochran’s
Q
test (
Q
: 16.72,
p
= 0.02) revealed evidence of heterogeneity in the association. No publication bias was observed by Egger’s test (
p
= 0.70). Sensitivity analysis revealed that even after excluding any study this polymorphism is associated with risk for CH. The rs1991517 mutation alters the binding affinity to cAMP (ΔG of 727D vs.727E: − 7.27 vs. − 7.34 kcal/mol). In conclusion, rs1991517 is a genetic risk factor for CH and exerts its impact by altering cAMP-mediated signal transduction.</description><identifier>ISSN: 2190-572X</identifier><identifier>EISSN: 2190-5738</identifier><identifier>DOI: 10.1007/s13205-020-02273-7</identifier><identifier>PMID: 32550104</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Agriculture ; Alleles ; Bioinformatics ; Biomaterials ; Biotechnology ; Cancer Research ; Chemistry ; Chemistry and Materials Science ; Congenital diseases ; Cyclic AMP ; Gene polymorphism ; Heterogeneity ; Hypothyroidism ; Meta-analysis ; Mutation ; Original ; Original Article ; Polymorphism ; Risk analysis ; Risk factors ; Sensitivity analysis ; Signal transduction ; Stem Cells ; Thyroid ; Thyroid-stimulating hormone ; Thyroid-stimulating hormone receptors</subject><ispartof>3 Biotech, 2020-06, Vol.10 (6), p.285-285, Article 285</ispartof><rights>King Abdulaziz City for Science and Technology 2020</rights><rights>King Abdulaziz City for Science and Technology 2020.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-13e722bbad68fc5db0c2cd4d00cf8eef8b333d0f387097748d7fb39468f5bae03</citedby><cites>FETCH-LOGICAL-c474t-13e722bbad68fc5db0c2cd4d00cf8eef8b333d0f387097748d7fb39468f5bae03</cites><orcidid>0000-0002-9433-2780</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266893/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266893/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32550104$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kollati, Yedukondalu</creatorcontrib><creatorcontrib>Akella, Radha Rama Devi</creatorcontrib><creatorcontrib>Naushad, Shaik Mohammad</creatorcontrib><creatorcontrib>Thalla, Maunika</creatorcontrib><creatorcontrib>Reddy, G Bhanuprakash</creatorcontrib><creatorcontrib>Dirisala, Vijaya R.</creatorcontrib><title>The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism</title><title>3 Biotech</title><addtitle>3 Biotech</addtitle><addtitle>3 Biotech</addtitle><description>The objective of the current study is to explore the association of thyroid-stimulating hormone receptor (
TSHR
) rs1991517 polymorphism (c.2337 C > G, p.D727E) with congenital hypothyroidism (CH) through a case–control study followed by a meta-analysis. The case–control study was based on 45 CH subjects and 700 healthy controls. Meta-analysis comprised of seven published studies and our current findings (1044 CH cases and 1649 healthy controls). The allele contrast model showed that the presence of G- allele increased CH risk by 45% (OR: 1.45, 95% CI 1.20–1.76) and 41% (OR: 1.41, 95% CI 1.03–1.93) in fixed effect and random effect models, respectively. The GG- genotype is associated with 2.3-fold (95% CI 1.32–3.99) increased risk for CH in the fixed-effect model.
I
2
(0.58) and Cochran’s
Q
test (
Q
: 16.72,
p
= 0.02) revealed evidence of heterogeneity in the association. No publication bias was observed by Egger’s test (
p
= 0.70). Sensitivity analysis revealed that even after excluding any study this polymorphism is associated with risk for CH. The rs1991517 mutation alters the binding affinity to cAMP (ΔG of 727D vs.727E: − 7.27 vs. − 7.34 kcal/mol). In conclusion, rs1991517 is a genetic risk factor for CH and exerts its impact by altering cAMP-mediated signal transduction.</description><subject>Agriculture</subject><subject>Alleles</subject><subject>Bioinformatics</subject><subject>Biomaterials</subject><subject>Biotechnology</subject><subject>Cancer Research</subject><subject>Chemistry</subject><subject>Chemistry and Materials Science</subject><subject>Congenital diseases</subject><subject>Cyclic AMP</subject><subject>Gene polymorphism</subject><subject>Heterogeneity</subject><subject>Hypothyroidism</subject><subject>Meta-analysis</subject><subject>Mutation</subject><subject>Original</subject><subject>Original Article</subject><subject>Polymorphism</subject><subject>Risk analysis</subject><subject>Risk factors</subject><subject>Sensitivity analysis</subject><subject>Signal transduction</subject><subject>Stem Cells</subject><subject>Thyroid</subject><subject>Thyroid-stimulating hormone</subject><subject>Thyroid-stimulating hormone receptors</subject><issn>2190-572X</issn><issn>2190-5738</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp9kV1rFTEQhoMottT-gV5IwBtvtk6-TrI3ghS1QkGECr0L2WzSTd3drMke4fx7p556_LhoYEhgnnknMy8hZwzOGYB-U5ngoBrggMG1aPQTcsxZC43Swjw9vPnNETmt9Q7wKKZaBs_JkeBKAQN5TL5cD4GWytqWKabpksfdlMsypDrRVKmjt2EOa_K0pPqNRufXXGjE8HnGVFrdSIfdktdhV3LqsewFeRbdWMPpw31Cvn54f31x2Vx9_vjp4t1V46WWa8NE0Jx3nes3JnrVd-C572UP4KMJIZpOCNFDFEZDq7U0vY6daCXSqnMBxAl5u9ddtt0Ueh_mtbjRLiVNruxsdsn-m5nTYG_zD6v5ZmNagQKvHwRK_r4NdbVTqj6Mo5tD3lbLJZNaSBAc0Vf_oXd5W2YcDykwZqNxf0jxPeVLrrWEePgMA3tvmt2bZtE0-8s0q7Ho5d9jHEp-W4SA2AMVU7jz8qf3I7I_AROMooU</recordid><startdate>20200601</startdate><enddate>20200601</enddate><creator>Kollati, Yedukondalu</creator><creator>Akella, Radha Rama Devi</creator><creator>Naushad, Shaik Mohammad</creator><creator>Thalla, Maunika</creator><creator>Reddy, G Bhanuprakash</creator><creator>Dirisala, Vijaya R.</creator><general>Springer International Publishing</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-9433-2780</orcidid></search><sort><creationdate>20200601</creationdate><title>The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism</title><author>Kollati, Yedukondalu ; Akella, Radha Rama Devi ; Naushad, Shaik Mohammad ; Thalla, Maunika ; Reddy, G Bhanuprakash ; Dirisala, Vijaya R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-13e722bbad68fc5db0c2cd4d00cf8eef8b333d0f387097748d7fb39468f5bae03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Agriculture</topic><topic>Alleles</topic><topic>Bioinformatics</topic><topic>Biomaterials</topic><topic>Biotechnology</topic><topic>Cancer Research</topic><topic>Chemistry</topic><topic>Chemistry and Materials Science</topic><topic>Congenital diseases</topic><topic>Cyclic AMP</topic><topic>Gene polymorphism</topic><topic>Heterogeneity</topic><topic>Hypothyroidism</topic><topic>Meta-analysis</topic><topic>Mutation</topic><topic>Original</topic><topic>Original Article</topic><topic>Polymorphism</topic><topic>Risk analysis</topic><topic>Risk factors</topic><topic>Sensitivity analysis</topic><topic>Signal transduction</topic><topic>Stem Cells</topic><topic>Thyroid</topic><topic>Thyroid-stimulating hormone</topic><topic>Thyroid-stimulating hormone receptors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kollati, Yedukondalu</creatorcontrib><creatorcontrib>Akella, Radha Rama Devi</creatorcontrib><creatorcontrib>Naushad, Shaik Mohammad</creatorcontrib><creatorcontrib>Thalla, Maunika</creatorcontrib><creatorcontrib>Reddy, G Bhanuprakash</creatorcontrib><creatorcontrib>Dirisala, Vijaya R.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>3 Biotech</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kollati, Yedukondalu</au><au>Akella, Radha Rama Devi</au><au>Naushad, Shaik Mohammad</au><au>Thalla, Maunika</au><au>Reddy, G Bhanuprakash</au><au>Dirisala, Vijaya R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism</atitle><jtitle>3 Biotech</jtitle><stitle>3 Biotech</stitle><addtitle>3 Biotech</addtitle><date>2020-06-01</date><risdate>2020</risdate><volume>10</volume><issue>6</issue><spage>285</spage><epage>285</epage><pages>285-285</pages><artnum>285</artnum><issn>2190-572X</issn><eissn>2190-5738</eissn><abstract>The objective of the current study is to explore the association of thyroid-stimulating hormone receptor (
TSHR
) rs1991517 polymorphism (c.2337 C > G, p.D727E) with congenital hypothyroidism (CH) through a case–control study followed by a meta-analysis. The case–control study was based on 45 CH subjects and 700 healthy controls. Meta-analysis comprised of seven published studies and our current findings (1044 CH cases and 1649 healthy controls). The allele contrast model showed that the presence of G- allele increased CH risk by 45% (OR: 1.45, 95% CI 1.20–1.76) and 41% (OR: 1.41, 95% CI 1.03–1.93) in fixed effect and random effect models, respectively. The GG- genotype is associated with 2.3-fold (95% CI 1.32–3.99) increased risk for CH in the fixed-effect model.
I
2
(0.58) and Cochran’s
Q
test (
Q
: 16.72,
p
= 0.02) revealed evidence of heterogeneity in the association. No publication bias was observed by Egger’s test (
p
= 0.70). Sensitivity analysis revealed that even after excluding any study this polymorphism is associated with risk for CH. The rs1991517 mutation alters the binding affinity to cAMP (ΔG of 727D vs.727E: − 7.27 vs. − 7.34 kcal/mol). In conclusion, rs1991517 is a genetic risk factor for CH and exerts its impact by altering cAMP-mediated signal transduction.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>32550104</pmid><doi>10.1007/s13205-020-02273-7</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0002-9433-2780</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Springer Link; PubMed Central |
| subjects | Agriculture Alleles Bioinformatics Biomaterials Biotechnology Cancer Research Chemistry Chemistry and Materials Science Congenital diseases Cyclic AMP Gene polymorphism Heterogeneity Hypothyroidism Meta-analysis Mutation Original Original Article Polymorphism Risk analysis Risk factors Sensitivity analysis Signal transduction Stem Cells Thyroid Thyroid-stimulating hormone Thyroid-stimulating hormone receptors |
| title | The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism |
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