Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
Purpose Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected f...
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| Veröffentlicht in: | Genetics in medicine 2017-11, Vol.19 (11), p.1276-1279 |
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| creator | Hannah-Shmouni, Fady Morissette, Rachel Sinaii, Ninet Elman, Meredith Prezant, Toni R Chen, Wuyan Pulver, Ann Merke, Deborah P |
| description | Purpose
Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.
Methods
CYP21A2
genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis.
Results
Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (
P
=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309,
P |
| doi_str_mv | 10.1038/gim.2017.46 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5675788</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1961120108</sourcerecordid><originalsourceid>FETCH-LOGICAL-c446t-ed54aa9329b994476d27de1bc14b9d2951624b546348d4699f3de9ff49163f253</originalsourceid><addsrcrecordid>eNptkV2L1DAUhoMo7jp65b0EvBG0Y76aNjfCMvjJgqDudUiT05mMnaQm7cj6602ZdVnFqxN4H96c5EHoKSVrSnj7eusPa0ZosxbyHjqnNScV4VLeL2ei2opLQs7Qo5z3pECckYfojLW1oKyl52j_BY4--8mHLZ52gMcERzNAsIBjj0MMdjA5e4ttDFsIfjIDNi5BKHN3PUIaS-4N9gFffcUXefe9RL88_gQ_MzbB4Y2Z7UKE_Bg96M2Q4cnNXKGrd2-_bT5Ul5_ff9xcXFZWCDlV4GphjOJMdUoJ0UjHGge0s1R0yjFVU8lEVwvJReuEVKrnDlTfC0Ul71nNV-jNqXecuwM4C2FKZtBj8geTrnU0Xv-dBL_T23jUtWzqpm1LwYubghR_zJAnffDZwjCYAHHOmirCRMt40xT0-T_oPs6pfM5CSUqLF7IUvjxRNsWcE_S3y1CiF4e6ONSLQ12etULP7u5_y_6RVoBXJyCXqFhJdy79T99vYqOnOw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1961120108</pqid></control><display><type>article</type><title>Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>ProQuest Central UK/Ireland</source><source>Alma/SFX Local Collection</source><creator>Hannah-Shmouni, Fady ; Morissette, Rachel ; Sinaii, Ninet ; Elman, Meredith ; Prezant, Toni R ; Chen, Wuyan ; Pulver, Ann ; Merke, Deborah P</creator><creatorcontrib>Hannah-Shmouni, Fady ; Morissette, Rachel ; Sinaii, Ninet ; Elman, Meredith ; Prezant, Toni R ; Chen, Wuyan ; Pulver, Ann ; Merke, Deborah P</creatorcontrib><description>Purpose
Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.
Methods
CYP21A2
genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis.
Results
Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (
P
=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309,
P
<0.0001) and disease affected (0.005 versus 0.037,
P
=0.009) was not as high as previously reported. The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.01–2.8).
Conclusion
Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2017.46</identifier><identifier>PMID: 28541281</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/208/457 ; 692/308/2779/174 ; 692/699/2743/1279 ; Adrenal glands ; Adrenal Hyperplasia, Congenital - epidemiology ; Adrenal Hyperplasia, Congenital - genetics ; Biomedical and Life Sciences ; Biomedicine ; Brief Report ; Ethnicity ; Gene Frequency ; Genotyping Techniques ; Heterozygote ; Human Genetics ; Humans ; Infertility ; Jewish people ; Jews ; Laboratory Medicine ; Mutation ; Prevalence ; Steroid 21-Hydroxylase - genetics ; United States - epidemiology ; White people ; Whites - genetics</subject><ispartof>Genetics in medicine, 2017-11, Vol.19 (11), p.1276-1279</ispartof><rights>The Author(s) 2017</rights><rights>Copyright Nature Publishing Group Nov 2017</rights><rights>Copyright © 2017 The Author(s) 2017 The Author(s)</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c446t-ed54aa9329b994476d27de1bc14b9d2951624b546348d4699f3de9ff49163f253</citedby><cites>FETCH-LOGICAL-c446t-ed54aa9329b994476d27de1bc14b9d2951624b546348d4699f3de9ff49163f253</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/1961120108?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,314,780,784,885,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28541281$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hannah-Shmouni, Fady</creatorcontrib><creatorcontrib>Morissette, Rachel</creatorcontrib><creatorcontrib>Sinaii, Ninet</creatorcontrib><creatorcontrib>Elman, Meredith</creatorcontrib><creatorcontrib>Prezant, Toni R</creatorcontrib><creatorcontrib>Chen, Wuyan</creatorcontrib><creatorcontrib>Pulver, Ann</creatorcontrib><creatorcontrib>Merke, Deborah P</creatorcontrib><title>Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Purpose
Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.
Methods
CYP21A2
genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis.
Results
Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (
P
=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309,
P
<0.0001) and disease affected (0.005 versus 0.037,
P
=0.009) was not as high as previously reported. The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.01–2.8).
Conclusion
Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling.</description><subject>631/208/457</subject><subject>692/308/2779/174</subject><subject>692/699/2743/1279</subject><subject>Adrenal glands</subject><subject>Adrenal Hyperplasia, Congenital - epidemiology</subject><subject>Adrenal Hyperplasia, Congenital - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Brief Report</subject><subject>Ethnicity</subject><subject>Gene Frequency</subject><subject>Genotyping Techniques</subject><subject>Heterozygote</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infertility</subject><subject>Jewish people</subject><subject>Jews</subject><subject>Laboratory Medicine</subject><subject>Mutation</subject><subject>Prevalence</subject><subject>Steroid 21-Hydroxylase - genetics</subject><subject>United States - epidemiology</subject><subject>White people</subject><subject>Whites - genetics</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNptkV2L1DAUhoMo7jp65b0EvBG0Y76aNjfCMvjJgqDudUiT05mMnaQm7cj6602ZdVnFqxN4H96c5EHoKSVrSnj7eusPa0ZosxbyHjqnNScV4VLeL2ei2opLQs7Qo5z3pECckYfojLW1oKyl52j_BY4--8mHLZ52gMcERzNAsIBjj0MMdjA5e4ttDFsIfjIDNi5BKHN3PUIaS-4N9gFffcUXefe9RL88_gQ_MzbB4Y2Z7UKE_Bg96M2Q4cnNXKGrd2-_bT5Ul5_ff9xcXFZWCDlV4GphjOJMdUoJ0UjHGge0s1R0yjFVU8lEVwvJReuEVKrnDlTfC0Ul71nNV-jNqXecuwM4C2FKZtBj8geTrnU0Xv-dBL_T23jUtWzqpm1LwYubghR_zJAnffDZwjCYAHHOmirCRMt40xT0-T_oPs6pfM5CSUqLF7IUvjxRNsWcE_S3y1CiF4e6ONSLQ12etULP7u5_y_6RVoBXJyCXqFhJdy79T99vYqOnOw</recordid><startdate>20171101</startdate><enddate>20171101</enddate><creator>Hannah-Shmouni, Fady</creator><creator>Morissette, Rachel</creator><creator>Sinaii, Ninet</creator><creator>Elman, Meredith</creator><creator>Prezant, Toni R</creator><creator>Chen, Wuyan</creator><creator>Pulver, Ann</creator><creator>Merke, Deborah P</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</general><general>Nature Publishing Group</general><scope>C6C</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20171101</creationdate><title>Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians</title><author>Hannah-Shmouni, Fady ; Morissette, Rachel ; Sinaii, Ninet ; Elman, Meredith ; Prezant, Toni R ; Chen, Wuyan ; Pulver, Ann ; Merke, Deborah P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c446t-ed54aa9329b994476d27de1bc14b9d2951624b546348d4699f3de9ff49163f253</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>631/208/457</topic><topic>692/308/2779/174</topic><topic>692/699/2743/1279</topic><topic>Adrenal glands</topic><topic>Adrenal Hyperplasia, Congenital - epidemiology</topic><topic>Adrenal Hyperplasia, Congenital - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brief Report</topic><topic>Ethnicity</topic><topic>Gene Frequency</topic><topic>Genotyping Techniques</topic><topic>Heterozygote</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infertility</topic><topic>Jewish people</topic><topic>Jews</topic><topic>Laboratory Medicine</topic><topic>Mutation</topic><topic>Prevalence</topic><topic>Steroid 21-Hydroxylase - genetics</topic><topic>United States - epidemiology</topic><topic>White people</topic><topic>Whites - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hannah-Shmouni, Fady</creatorcontrib><creatorcontrib>Morissette, Rachel</creatorcontrib><creatorcontrib>Sinaii, Ninet</creatorcontrib><creatorcontrib>Elman, Meredith</creatorcontrib><creatorcontrib>Prezant, Toni R</creatorcontrib><creatorcontrib>Chen, Wuyan</creatorcontrib><creatorcontrib>Pulver, Ann</creatorcontrib><creatorcontrib>Merke, Deborah P</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hannah-Shmouni, Fady</au><au>Morissette, Rachel</au><au>Sinaii, Ninet</au><au>Elman, Meredith</au><au>Prezant, Toni R</au><au>Chen, Wuyan</au><au>Pulver, Ann</au><au>Merke, Deborah P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2017-11-01</date><risdate>2017</risdate><volume>19</volume><issue>11</issue><spage>1276</spage><epage>1279</epage><pages>1276-1279</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose
Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.
Methods
CYP21A2
genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis.
Results
Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (
P
=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309,
P
<0.0001) and disease affected (0.005 versus 0.037,
P
=0.009) was not as high as previously reported. The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.01–2.8).
Conclusion
Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>28541281</pmid><doi>10.1038/gim.2017.46</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 631/208/457 692/308/2779/174 692/699/2743/1279 Adrenal glands Adrenal Hyperplasia, Congenital - epidemiology Adrenal Hyperplasia, Congenital - genetics Biomedical and Life Sciences Biomedicine Brief Report Ethnicity Gene Frequency Genotyping Techniques Heterozygote Human Genetics Humans Infertility Jewish people Jews Laboratory Medicine Mutation Prevalence Steroid 21-Hydroxylase - genetics United States - epidemiology White people Whites - genetics |
| title | Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
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