Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity
Objectives This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data. Methods The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing...
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| Veröffentlicht in: | Journal of diabetes and metabolic disorders 2024-12, Vol.24 (1), p.23, Article 23 |
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| creator | Gholami, Morteza Hamidi, Armita Kakavand Naghshband, Zeinab Asadi, Mojgan Amoli, Mahsa M. |
| description | Objectives
This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data.
Methods
The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing Registry (GTR) monogenic obesity panels. WES was performed on (
n
= 49) extremely obese (children under 5 with weight-for-height greater than 3 standard deviations (SD) above the World Health Organization (WHO) Child Growth Standards median) and (
n
= 50) control nonobese (25 > body mass index (BMI) |
| doi_str_mv | 10.1007/s40200-024-01507-2 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_3148498315</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3148498315</sourcerecordid><originalsourceid>FETCH-LOGICAL-c228t-f3f36b29b64c1effd19bd0fbe30adc8ae8988942267ee38d4ef40aef7db02a0d3</originalsourceid><addsrcrecordid>eNp9kE1LxDAQhoMoKrp_wIPk6KU6-dg2PYr4BYIXxZOEtJnsdmmTNemq---Nroonc5kM88wL8xByxOCUAVRnSQIHKIDLAtgUqoJvkX3Op6wop4pt__nvkUlKC8ivqpRi5S7ZE3XFuJCwT56f5qFHiu9hQJrwZYW-7fyMRnxF06OlHt_oq4md8WOixls6N8s-jOsl5jal0HZmzNhbN87pEHyYoe9aGhpM3bg-JDvO9Akn3_WAPF5dPlzcFHf317cX53dFy7kaCyecKBteN6VsGTpnWd1YcA0KMLZVBlWtVC05LytEoaxEJ8Ggq2wD3IAVB-Rkk7uMIZ-QRj10qcW-Nx7DKmnBpJK1EmyaUb5B2xhSiuj0MnaDiWvNQH-a1RuzOpvVX2Y1z0vH3_mrZkD7u_LjMQNiA6Q88jOMehFW0eeb_4v9ACTthgY</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3148498315</pqid></control><display><type>article</type><title>Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity</title><source>Springer Nature - Complete Springer Journals</source><creator>Gholami, Morteza ; Hamidi, Armita Kakavand ; Naghshband, Zeinab ; Asadi, Mojgan ; Amoli, Mahsa M.</creator><creatorcontrib>Gholami, Morteza ; Hamidi, Armita Kakavand ; Naghshband, Zeinab ; Asadi, Mojgan ; Amoli, Mahsa M.</creatorcontrib><description>Objectives
This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data.
Methods
The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing Registry (GTR) monogenic obesity panels. WES was performed on (
n
= 49) extremely obese (children under 5 with weight-for-height greater than 3 standard deviations (SD) above the World Health Organization (WHO) Child Growth Standards median) and (
n
= 50) control nonobese (25 > body mass index (BMI) < 30) subjects without a history of childhood obesity, and also Iranome WES data of healthy subjects (
n
= 800).
Results
Seventy-four genes were included in WES analyses. After Bonferroni correction, the T allele of rs2275155 on
SDCCAG8
was significantly associated with the increased risk of obesity for allelic and co-dominant models (
p
˂0.05). Also, a significant association was observed for the T allele of rs116167439 on
CEP19
and the T allele of rs201676524 a rare variant on
ADCY3
; for allelic, dominant, overdominant, and co-dominant models (
p
˂0.05). In the haplotype association study, TC
(
on
CEP19
), CATA (on
SDCCAG8
), CAA, CTA, CAAA, and TTGA (on
ADCY3
) haplotypes showed significant associations with monogenic obesity (
p
< 0.05).
Conclusions
This study suggested that the T allele of two common variants rs2275155 and rs116167439, also rare variant rs201676524 are associated with an increased risk of monogenic obesity. The significant haplotype associations indicate these variants may be in linkage with causative rare variants and should be considered in future studies.</description><identifier>ISSN: 2251-6581</identifier><identifier>EISSN: 2251-6581</identifier><identifier>DOI: 10.1007/s40200-024-01507-2</identifier><identifier>PMID: 39712340</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Diabetes ; Endocrinology ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Research Article</subject><ispartof>Journal of diabetes and metabolic disorders, 2024-12, Vol.24 (1), p.23, Article 23</ispartof><rights>The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024 Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c228t-f3f36b29b64c1effd19bd0fbe30adc8ae8988942267ee38d4ef40aef7db02a0d3</cites><orcidid>0000-0003-3135-9879 ; 0000-0002-9168-9223</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/s40200-024-01507-2$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s40200-024-01507-2$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,778,782,27911,27912,41475,42544,51306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39712340$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gholami, Morteza</creatorcontrib><creatorcontrib>Hamidi, Armita Kakavand</creatorcontrib><creatorcontrib>Naghshband, Zeinab</creatorcontrib><creatorcontrib>Asadi, Mojgan</creatorcontrib><creatorcontrib>Amoli, Mahsa M.</creatorcontrib><title>Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity</title><title>Journal of diabetes and metabolic disorders</title><addtitle>J Diabetes Metab Disord</addtitle><addtitle>J Diabetes Metab Disord</addtitle><description>Objectives
This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data.
Methods
The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing Registry (GTR) monogenic obesity panels. WES was performed on (
n
= 49) extremely obese (children under 5 with weight-for-height greater than 3 standard deviations (SD) above the World Health Organization (WHO) Child Growth Standards median) and (
n
= 50) control nonobese (25 > body mass index (BMI) < 30) subjects without a history of childhood obesity, and also Iranome WES data of healthy subjects (
n
= 800).
Results
Seventy-four genes were included in WES analyses. After Bonferroni correction, the T allele of rs2275155 on
SDCCAG8
was significantly associated with the increased risk of obesity for allelic and co-dominant models (
p
˂0.05). Also, a significant association was observed for the T allele of rs116167439 on
CEP19
and the T allele of rs201676524 a rare variant on
ADCY3
; for allelic, dominant, overdominant, and co-dominant models (
p
˂0.05). In the haplotype association study, TC
(
on
CEP19
), CATA (on
SDCCAG8
), CAA, CTA, CAAA, and TTGA (on
ADCY3
) haplotypes showed significant associations with monogenic obesity (
p
< 0.05).
Conclusions
This study suggested that the T allele of two common variants rs2275155 and rs116167439, also rare variant rs201676524 are associated with an increased risk of monogenic obesity. The significant haplotype associations indicate these variants may be in linkage with causative rare variants and should be considered in future studies.</description><subject>Diabetes</subject><subject>Endocrinology</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Research Article</subject><issn>2251-6581</issn><issn>2251-6581</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kE1LxDAQhoMoKrp_wIPk6KU6-dg2PYr4BYIXxZOEtJnsdmmTNemq---Nroonc5kM88wL8xByxOCUAVRnSQIHKIDLAtgUqoJvkX3Op6wop4pt__nvkUlKC8ivqpRi5S7ZE3XFuJCwT56f5qFHiu9hQJrwZYW-7fyMRnxF06OlHt_oq4md8WOixls6N8s-jOsl5jal0HZmzNhbN87pEHyYoe9aGhpM3bg-JDvO9Akn3_WAPF5dPlzcFHf317cX53dFy7kaCyecKBteN6VsGTpnWd1YcA0KMLZVBlWtVC05LytEoaxEJ8Ggq2wD3IAVB-Rkk7uMIZ-QRj10qcW-Nx7DKmnBpJK1EmyaUb5B2xhSiuj0MnaDiWvNQH-a1RuzOpvVX2Y1z0vH3_mrZkD7u_LjMQNiA6Q88jOMehFW0eeb_4v9ACTthgY</recordid><startdate>20241220</startdate><enddate>20241220</enddate><creator>Gholami, Morteza</creator><creator>Hamidi, Armita Kakavand</creator><creator>Naghshband, Zeinab</creator><creator>Asadi, Mojgan</creator><creator>Amoli, Mahsa M.</creator><general>Springer International Publishing</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3135-9879</orcidid><orcidid>https://orcid.org/0000-0002-9168-9223</orcidid></search><sort><creationdate>20241220</creationdate><title>Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity</title><author>Gholami, Morteza ; Hamidi, Armita Kakavand ; Naghshband, Zeinab ; Asadi, Mojgan ; Amoli, Mahsa M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c228t-f3f36b29b64c1effd19bd0fbe30adc8ae8988942267ee38d4ef40aef7db02a0d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Diabetes</topic><topic>Endocrinology</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Research Article</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gholami, Morteza</creatorcontrib><creatorcontrib>Hamidi, Armita Kakavand</creatorcontrib><creatorcontrib>Naghshband, Zeinab</creatorcontrib><creatorcontrib>Asadi, Mojgan</creatorcontrib><creatorcontrib>Amoli, Mahsa M.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of diabetes and metabolic disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gholami, Morteza</au><au>Hamidi, Armita Kakavand</au><au>Naghshband, Zeinab</au><au>Asadi, Mojgan</au><au>Amoli, Mahsa M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity</atitle><jtitle>Journal of diabetes and metabolic disorders</jtitle><stitle>J Diabetes Metab Disord</stitle><addtitle>J Diabetes Metab Disord</addtitle><date>2024-12-20</date><risdate>2024</risdate><volume>24</volume><issue>1</issue><spage>23</spage><pages>23-</pages><artnum>23</artnum><issn>2251-6581</issn><eissn>2251-6581</eissn><abstract>Objectives
This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data.
Methods
The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing Registry (GTR) monogenic obesity panels. WES was performed on (
n
= 49) extremely obese (children under 5 with weight-for-height greater than 3 standard deviations (SD) above the World Health Organization (WHO) Child Growth Standards median) and (
n
= 50) control nonobese (25 > body mass index (BMI) < 30) subjects without a history of childhood obesity, and also Iranome WES data of healthy subjects (
n
= 800).
Results
Seventy-four genes were included in WES analyses. After Bonferroni correction, the T allele of rs2275155 on
SDCCAG8
was significantly associated with the increased risk of obesity for allelic and co-dominant models (
p
˂0.05). Also, a significant association was observed for the T allele of rs116167439 on
CEP19
and the T allele of rs201676524 a rare variant on
ADCY3
; for allelic, dominant, overdominant, and co-dominant models (
p
˂0.05). In the haplotype association study, TC
(
on
CEP19
), CATA (on
SDCCAG8
), CAA, CTA, CAAA, and TTGA (on
ADCY3
) haplotypes showed significant associations with monogenic obesity (
p
< 0.05).
Conclusions
This study suggested that the T allele of two common variants rs2275155 and rs116167439, also rare variant rs201676524 are associated with an increased risk of monogenic obesity. The significant haplotype associations indicate these variants may be in linkage with causative rare variants and should be considered in future studies.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>39712340</pmid><doi>10.1007/s40200-024-01507-2</doi><orcidid>https://orcid.org/0000-0003-3135-9879</orcidid><orcidid>https://orcid.org/0000-0002-9168-9223</orcidid></addata></record> |
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| subjects | Diabetes Endocrinology Medicine Medicine & Public Health Metabolic Diseases Research Article |
| title | Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity |
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