RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population
Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based...
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| Veröffentlicht in: | Annals of translational medicine 2020-07, Vol.8 (14), p.851-851 |
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| creator | Zhu, Bin Liu, Xingju Zhen, Xueke Li, Xixi Wu, Mingfen Zhang, Yan Zhao, Zhigang Zhang, Dong Zhao, Jizong |
| description | Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons.
Five gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study. Genomic DNA was genotyped by Mass Array methods.
A significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P |
| doi_str_mv | 10.21037/atm-20-1040 |
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| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7396805</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2434483985</sourcerecordid><originalsourceid>FETCH-LOGICAL-c314t-2c5de240606a0d2cc166cd4adef3d7d1cb14160d65ccacf67ca3255784c233b13</originalsourceid><addsrcrecordid>eNpVkcFv1TAMxiMEYtPYjTPKkQMdTpyk7QUJPbGBNIE0jXPkl6TvBbVJaVqm99-vj41pHCzb8k-fLX-MvRVwIQVg_ZHmoZJQCVDwgp1KBF3pBtuXz-oTdl7KLwAQUrQI8JqdoKxbNK0-ZcvN90spkO9CCnzM_WHI07iPZeBTaVthUAtOya9dA7UCoXmJuxS76CjN_YFTKdlFmoPnd3He8yEf6BjcxxKoBB4T3-xjCuUoPy49zTGnN-xVR30J54_5jP28_HK7-Vpd_7j6tvl8XTkUaq6k0z5IBQYMgZfOCWOcV-RDh772wm2FEga80c6R60ztCKXWdaOcRNwKPGOfHnTHZTsE70KaJ-rtOMWBpoPNFO3_kxT3dpf_2Bpb04BeBd4_Ckz59xLKbIdYXOh7SiEvxUqFSq0_bo7ohwfUTbmUKXRPawTYv2bZ1SwrwR7NWvF3z097gv9Zg_c95pCV</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2434483985</pqid></control><display><type>article</type><title>RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population</title><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Zhu, Bin ; Liu, Xingju ; Zhen, Xueke ; Li, Xixi ; Wu, Mingfen ; Zhang, Yan ; Zhao, Zhigang ; Zhang, Dong ; Zhao, Jizong</creator><creatorcontrib>Zhu, Bin ; Liu, Xingju ; Zhen, Xueke ; Li, Xixi ; Wu, Mingfen ; Zhang, Yan ; Zhao, Zhigang ; Zhang, Dong ; Zhao, Jizong</creatorcontrib><description>Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons.
Five gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study. Genomic DNA was genotyped by Mass Array methods.
A significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P<0.01). Logistic regression analysis revealed the significant differences under the dominant, recessive and additional model in rs9916351 [odds ratio (OR) =4.173, 95% confidence interval (CI): 2.290-7.606, P<0.001; OR =3.152, 95% CI: 1.585-6.267, P=0.001; OR =0.199, 95% CI: 1.727-3.764, P<0.001; respectively] and rs8074015 (OR =0.359, 95% CI: 0.206-0.627, P<0.001; OR =0.348, 95% CI: 0.148-0.81, P=0.015; OR =0.208, 95% CI: 0.311-0.703, P<0.001; respectively), even adjusting for age and gender. In addition, the haplotype rs9913636-rs8074015 under "GACG" showed significant association with MMD.
Our results had revealed the polymorphism of RNF213 rs9916351 and rs8074015 were significantly associated with MMD especially in Chinese population.</description><identifier>ISSN: 2305-5839</identifier><identifier>EISSN: 2305-5839</identifier><identifier>DOI: 10.21037/atm-20-1040</identifier><identifier>PMID: 32793695</identifier><language>eng</language><publisher>China: AME Publishing Company</publisher><subject>Original</subject><ispartof>Annals of translational medicine, 2020-07, Vol.8 (14), p.851-851</ispartof><rights>2020 Annals of Translational Medicine. All rights reserved.</rights><rights>2020 Annals of Translational Medicine. All rights reserved. 2020 Annals of Translational Medicine.</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c314t-2c5de240606a0d2cc166cd4adef3d7d1cb14160d65ccacf67ca3255784c233b13</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396805/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396805/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32793695$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhu, Bin</creatorcontrib><creatorcontrib>Liu, Xingju</creatorcontrib><creatorcontrib>Zhen, Xueke</creatorcontrib><creatorcontrib>Li, Xixi</creatorcontrib><creatorcontrib>Wu, Mingfen</creatorcontrib><creatorcontrib>Zhang, Yan</creatorcontrib><creatorcontrib>Zhao, Zhigang</creatorcontrib><creatorcontrib>Zhang, Dong</creatorcontrib><creatorcontrib>Zhao, Jizong</creatorcontrib><title>RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population</title><title>Annals of translational medicine</title><addtitle>Ann Transl Med</addtitle><description>Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons.
Five gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study. Genomic DNA was genotyped by Mass Array methods.
A significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P<0.01). Logistic regression analysis revealed the significant differences under the dominant, recessive and additional model in rs9916351 [odds ratio (OR) =4.173, 95% confidence interval (CI): 2.290-7.606, P<0.001; OR =3.152, 95% CI: 1.585-6.267, P=0.001; OR =0.199, 95% CI: 1.727-3.764, P<0.001; respectively] and rs8074015 (OR =0.359, 95% CI: 0.206-0.627, P<0.001; OR =0.348, 95% CI: 0.148-0.81, P=0.015; OR =0.208, 95% CI: 0.311-0.703, P<0.001; respectively), even adjusting for age and gender. In addition, the haplotype rs9913636-rs8074015 under "GACG" showed significant association with MMD.
Our results had revealed the polymorphism of RNF213 rs9916351 and rs8074015 were significantly associated with MMD especially in Chinese population.</description><subject>Original</subject><issn>2305-5839</issn><issn>2305-5839</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNpVkcFv1TAMxiMEYtPYjTPKkQMdTpyk7QUJPbGBNIE0jXPkl6TvBbVJaVqm99-vj41pHCzb8k-fLX-MvRVwIQVg_ZHmoZJQCVDwgp1KBF3pBtuXz-oTdl7KLwAQUrQI8JqdoKxbNK0-ZcvN90spkO9CCnzM_WHI07iPZeBTaVthUAtOya9dA7UCoXmJuxS76CjN_YFTKdlFmoPnd3He8yEf6BjcxxKoBB4T3-xjCuUoPy49zTGnN-xVR30J54_5jP28_HK7-Vpd_7j6tvl8XTkUaq6k0z5IBQYMgZfOCWOcV-RDh772wm2FEga80c6R60ztCKXWdaOcRNwKPGOfHnTHZTsE70KaJ-rtOMWBpoPNFO3_kxT3dpf_2Bpb04BeBd4_Ckz59xLKbIdYXOh7SiEvxUqFSq0_bo7ohwfUTbmUKXRPawTYv2bZ1SwrwR7NWvF3z097gv9Zg_c95pCV</recordid><startdate>202007</startdate><enddate>202007</enddate><creator>Zhu, Bin</creator><creator>Liu, Xingju</creator><creator>Zhen, Xueke</creator><creator>Li, Xixi</creator><creator>Wu, Mingfen</creator><creator>Zhang, Yan</creator><creator>Zhao, Zhigang</creator><creator>Zhang, Dong</creator><creator>Zhao, Jizong</creator><general>AME Publishing Company</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>202007</creationdate><title>RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population</title><author>Zhu, Bin ; Liu, Xingju ; Zhen, Xueke ; Li, Xixi ; Wu, Mingfen ; Zhang, Yan ; Zhao, Zhigang ; Zhang, Dong ; Zhao, Jizong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c314t-2c5de240606a0d2cc166cd4adef3d7d1cb14160d65ccacf67ca3255784c233b13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Original</topic><toplevel>online_resources</toplevel><creatorcontrib>Zhu, Bin</creatorcontrib><creatorcontrib>Liu, Xingju</creatorcontrib><creatorcontrib>Zhen, Xueke</creatorcontrib><creatorcontrib>Li, Xixi</creatorcontrib><creatorcontrib>Wu, Mingfen</creatorcontrib><creatorcontrib>Zhang, Yan</creatorcontrib><creatorcontrib>Zhao, Zhigang</creatorcontrib><creatorcontrib>Zhang, Dong</creatorcontrib><creatorcontrib>Zhao, Jizong</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Annals of translational medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhu, Bin</au><au>Liu, Xingju</au><au>Zhen, Xueke</au><au>Li, Xixi</au><au>Wu, Mingfen</au><au>Zhang, Yan</au><au>Zhao, Zhigang</au><au>Zhang, Dong</au><au>Zhao, Jizong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population</atitle><jtitle>Annals of translational medicine</jtitle><addtitle>Ann Transl Med</addtitle><date>2020-07</date><risdate>2020</risdate><volume>8</volume><issue>14</issue><spage>851</spage><epage>851</epage><pages>851-851</pages><issn>2305-5839</issn><eissn>2305-5839</eissn><abstract>Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons.
Five gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study. Genomic DNA was genotyped by Mass Array methods.
A significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P<0.01). Logistic regression analysis revealed the significant differences under the dominant, recessive and additional model in rs9916351 [odds ratio (OR) =4.173, 95% confidence interval (CI): 2.290-7.606, P<0.001; OR =3.152, 95% CI: 1.585-6.267, P=0.001; OR =0.199, 95% CI: 1.727-3.764, P<0.001; respectively] and rs8074015 (OR =0.359, 95% CI: 0.206-0.627, P<0.001; OR =0.348, 95% CI: 0.148-0.81, P=0.015; OR =0.208, 95% CI: 0.311-0.703, P<0.001; respectively), even adjusting for age and gender. In addition, the haplotype rs9913636-rs8074015 under "GACG" showed significant association with MMD.
Our results had revealed the polymorphism of RNF213 rs9916351 and rs8074015 were significantly associated with MMD especially in Chinese population.</abstract><cop>China</cop><pub>AME Publishing Company</pub><pmid>32793695</pmid><doi>10.21037/atm-20-1040</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| title | RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population |
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