Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension
We analyzed the association of 2 biallelic polymorphisms of CYP11B2 (P450c11AS) gene (1 in the Lys(173)Arg of exon 3 and the other in the promoter at position -344T/C) with hypertension in 73 hypertensive patients and 134 normotensive subjects. The association between low-renin hypertension and angi...
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Veröffentlicht in: | Hypertension (Dallas, Tex. 1979) Tex. 1979), 2000-03, Vol.35 (3), p.699-703 |
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creator | Komiya, I Yamada, T Takara, M Asawa, T Shimabukuro, M Nishimori, T Takasu, N |
description | We analyzed the association of 2 biallelic polymorphisms of CYP11B2 (P450c11AS) gene (1 in the Lys(173)Arg of exon 3 and the other in the promoter at position -344T/C) with hypertension in 73 hypertensive patients and 134 normotensive subjects. The association between low-renin hypertension and angiotensin I-converting enzyme (ACE) gene was also analyzed. An elevated ratio of plasma aldosterone concentration to plasma renin activity was used to identify low-renin hypertension. Genotypes for CYP11B2 and ACE were determined through polymerase chain reactions. The Arg(173) allele frequency did not differ between hypertensive patients considered as 1 group (34%) and normotensive control subjects (37%). However, only 22% of 58 CYP11B2 alleles studied in 29 patients with low-renin hypertension were Arg(173) alleles, whereas the frequency of this allele was 41% in patients with normal- or high-renin hypertension (P=0.033). An analysis of the distribution of -344C and Arg(173) genotypes indicated that these 2 variants were in complete linkage disequilibrium: -344C was present in a subset of chromosomes carrying the Arg(173) (P |
doi_str_mv | 10.1161/01.HYP.35.3.699 |
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The association between low-renin hypertension and angiotensin I-converting enzyme (ACE) gene was also analyzed. An elevated ratio of plasma aldosterone concentration to plasma renin activity was used to identify low-renin hypertension. Genotypes for CYP11B2 and ACE were determined through polymerase chain reactions. The Arg(173) allele frequency did not differ between hypertensive patients considered as 1 group (34%) and normotensive control subjects (37%). However, only 22% of 58 CYP11B2 alleles studied in 29 patients with low-renin hypertension were Arg(173) alleles, whereas the frequency of this allele was 41% in patients with normal- or high-renin hypertension (P=0.033). An analysis of the distribution of -344C and Arg(173) genotypes indicated that these 2 variants were in complete linkage disequilibrium: -344C was present in a subset of chromosomes carrying the Arg(173) (P<0.001 in low-renin hypertension). Therefore, the frequency of the -344C allele was low in the patients with low-renin hypertension compared with those with normal- or high-renin hypertension. Deletion (D) allele frequencies of the ACE gene were 31% in the patients with low-renin hypertension, 39% in the patients with normal- or high-renin hypertension, and 29% in normotensive control subjects. We detected an association between the CYP11B2 gene polymorphisms and low-renin hypertension with inappropriate elevation of aldosterone. The decreased frequencies of the Arg(173) and -344C variants in the CYP11B2 appear to be genetically linked to low-renin hypertension in the Japanese population studied.</description><identifier>ISSN: 0194-911X</identifier><identifier>EISSN: 1524-4563</identifier><identifier>DOI: 10.1161/01.HYP.35.3.699</identifier><identifier>PMID: 10720581</identifier><identifier>CODEN: HPRTDN</identifier><language>eng</language><publisher>United States: American Heart Association, Inc</publisher><subject>Adult ; Aged ; Aldosterone - blood ; Alleles ; Arginine ; Cytochrome P-450 CYP11B2 - genetics ; DNA Mutational Analysis ; Female ; Gene Expression Regulation, Enzymologic ; Genetic Markers ; Humans ; Hypertension, Renal - blood ; Hypertension, Renal - genetics ; Japan ; Lysine ; Male ; Middle Aged ; Polymorphism, Genetic ; Promoter Regions, Genetic - physiology ; Renin - blood ; Renin-Angiotensin System - genetics</subject><ispartof>Hypertension (Dallas, Tex. 1979), 2000-03, Vol.35 (3), p.699-703</ispartof><rights>Copyright American Heart Association, Inc. Mar 2000</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10720581$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Komiya, I</creatorcontrib><creatorcontrib>Yamada, T</creatorcontrib><creatorcontrib>Takara, M</creatorcontrib><creatorcontrib>Asawa, T</creatorcontrib><creatorcontrib>Shimabukuro, M</creatorcontrib><creatorcontrib>Nishimori, T</creatorcontrib><creatorcontrib>Takasu, N</creatorcontrib><title>Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension</title><title>Hypertension (Dallas, Tex. 1979)</title><addtitle>Hypertension</addtitle><description>We analyzed the association of 2 biallelic polymorphisms of CYP11B2 (P450c11AS) gene (1 in the Lys(173)Arg of exon 3 and the other in the promoter at position -344T/C) with hypertension in 73 hypertensive patients and 134 normotensive subjects. The association between low-renin hypertension and angiotensin I-converting enzyme (ACE) gene was also analyzed. An elevated ratio of plasma aldosterone concentration to plasma renin activity was used to identify low-renin hypertension. Genotypes for CYP11B2 and ACE were determined through polymerase chain reactions. The Arg(173) allele frequency did not differ between hypertensive patients considered as 1 group (34%) and normotensive control subjects (37%). However, only 22% of 58 CYP11B2 alleles studied in 29 patients with low-renin hypertension were Arg(173) alleles, whereas the frequency of this allele was 41% in patients with normal- or high-renin hypertension (P=0.033). An analysis of the distribution of -344C and Arg(173) genotypes indicated that these 2 variants were in complete linkage disequilibrium: -344C was present in a subset of chromosomes carrying the Arg(173) (P<0.001 in low-renin hypertension). Therefore, the frequency of the -344C allele was low in the patients with low-renin hypertension compared with those with normal- or high-renin hypertension. Deletion (D) allele frequencies of the ACE gene were 31% in the patients with low-renin hypertension, 39% in the patients with normal- or high-renin hypertension, and 29% in normotensive control subjects. We detected an association between the CYP11B2 gene polymorphisms and low-renin hypertension with inappropriate elevation of aldosterone. The decreased frequencies of the Arg(173) and -344C variants in the CYP11B2 appear to be genetically linked to low-renin hypertension in the Japanese population studied.</description><subject>Adult</subject><subject>Aged</subject><subject>Aldosterone - blood</subject><subject>Alleles</subject><subject>Arginine</subject><subject>Cytochrome P-450 CYP11B2 - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gene Expression Regulation, Enzymologic</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Hypertension, Renal - blood</subject><subject>Hypertension, Renal - genetics</subject><subject>Japan</subject><subject>Lysine</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Polymorphism, Genetic</subject><subject>Promoter Regions, Genetic - physiology</subject><subject>Renin - blood</subject><subject>Renin-Angiotensin System - genetics</subject><issn>0194-911X</issn><issn>1524-4563</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpd0M9LwzAUB_AgipvTszcJHkQP7fLyo22Os6hTBu4wwYFQsiZ1HV1ak9ax_96KehEevMP78PjyRegcSAgQwZhAOF3OQyZCFkZSHqAhCMoDLiJ2iIYEJA8kwOsAnXi_IQQ45_ExGgCJKREJDNHbbO-vIWY3E_eOldU4YJwvxin-VK5UtvW4LnC6nAPcUlxa_KQaZY03uFFtab7vu7Jd46reBc7YHqz3jXGtsb6s7Sk6KlTlzdnvHqGX-7tFOg1mzw-P6WQWNJTxNtDa6IICI4lWUcJWEQjFgTHgUmtNIFc8odIUtIggFzzKC5EnRAq-inlSCM5G6Ornb-Pqj874NtuWPjdV1UetO5_FRPZDZQ8v_8FN3TnbZ8v6PhhhVECPLn5Rt9oanTWu3Cq3z_5KY18V3Grt</recordid><startdate>20000301</startdate><enddate>20000301</enddate><creator>Komiya, I</creator><creator>Yamada, T</creator><creator>Takara, M</creator><creator>Asawa, T</creator><creator>Shimabukuro, M</creator><creator>Nishimori, T</creator><creator>Takasu, N</creator><general>American Heart Association, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>20000301</creationdate><title>Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension</title><author>Komiya, I ; Yamada, T ; Takara, M ; Asawa, T ; Shimabukuro, M ; Nishimori, T ; Takasu, N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p234t-ddedf21308da683b615a4133149ddd01ca4829ef2f61c546cf5c80954b748f543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aldosterone - blood</topic><topic>Alleles</topic><topic>Arginine</topic><topic>Cytochrome P-450 CYP11B2 - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Gene Expression Regulation, Enzymologic</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Hypertension, Renal - blood</topic><topic>Hypertension, Renal - genetics</topic><topic>Japan</topic><topic>Lysine</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Polymorphism, Genetic</topic><topic>Promoter Regions, Genetic - physiology</topic><topic>Renin - blood</topic><topic>Renin-Angiotensin System - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Komiya, I</creatorcontrib><creatorcontrib>Yamada, T</creatorcontrib><creatorcontrib>Takara, M</creatorcontrib><creatorcontrib>Asawa, T</creatorcontrib><creatorcontrib>Shimabukuro, M</creatorcontrib><creatorcontrib>Nishimori, T</creatorcontrib><creatorcontrib>Takasu, N</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Hypertension (Dallas, Tex. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Komiya, I</au><au>Yamada, T</au><au>Takara, M</au><au>Asawa, T</au><au>Shimabukuro, M</au><au>Nishimori, T</au><au>Takasu, N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension</atitle><jtitle>Hypertension (Dallas, Tex. 1979)</jtitle><addtitle>Hypertension</addtitle><date>2000-03-01</date><risdate>2000</risdate><volume>35</volume><issue>3</issue><spage>699</spage><epage>703</epage><pages>699-703</pages><issn>0194-911X</issn><eissn>1524-4563</eissn><coden>HPRTDN</coden><abstract>We analyzed the association of 2 biallelic polymorphisms of CYP11B2 (P450c11AS) gene (1 in the Lys(173)Arg of exon 3 and the other in the promoter at position -344T/C) with hypertension in 73 hypertensive patients and 134 normotensive subjects. The association between low-renin hypertension and angiotensin I-converting enzyme (ACE) gene was also analyzed. An elevated ratio of plasma aldosterone concentration to plasma renin activity was used to identify low-renin hypertension. Genotypes for CYP11B2 and ACE were determined through polymerase chain reactions. The Arg(173) allele frequency did not differ between hypertensive patients considered as 1 group (34%) and normotensive control subjects (37%). However, only 22% of 58 CYP11B2 alleles studied in 29 patients with low-renin hypertension were Arg(173) alleles, whereas the frequency of this allele was 41% in patients with normal- or high-renin hypertension (P=0.033). An analysis of the distribution of -344C and Arg(173) genotypes indicated that these 2 variants were in complete linkage disequilibrium: -344C was present in a subset of chromosomes carrying the Arg(173) (P<0.001 in low-renin hypertension). Therefore, the frequency of the -344C allele was low in the patients with low-renin hypertension compared with those with normal- or high-renin hypertension. Deletion (D) allele frequencies of the ACE gene were 31% in the patients with low-renin hypertension, 39% in the patients with normal- or high-renin hypertension, and 29% in normotensive control subjects. We detected an association between the CYP11B2 gene polymorphisms and low-renin hypertension with inappropriate elevation of aldosterone. The decreased frequencies of the Arg(173) and -344C variants in the CYP11B2 appear to be genetically linked to low-renin hypertension in the Japanese population studied.</abstract><cop>United States</cop><pub>American Heart Association, Inc</pub><pmid>10720581</pmid><doi>10.1161/01.HYP.35.3.699</doi><tpages>5</tpages></addata></record> |
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subjects | Adult Aged Aldosterone - blood Alleles Arginine Cytochrome P-450 CYP11B2 - genetics DNA Mutational Analysis Female Gene Expression Regulation, Enzymologic Genetic Markers Humans Hypertension, Renal - blood Hypertension, Renal - genetics Japan Lysine Male Middle Aged Polymorphism, Genetic Promoter Regions, Genetic - physiology Renin - blood Renin-Angiotensin System - genetics |
title | Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension |
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