Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish
Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (...
Uloženo v:
| Vydáno v: | BMC genomics Ročník 24; číslo 1; s. 134 - 9 |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
London
BioMed Central
20.03.2023
BioMed Central Ltd BMC |
| Témata: | |
| ISSN: | 1471-2164, 1471-2164 |
| On-line přístup: | Získat plný text |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
| Abstract | Background:
Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations.
Methods:
In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis.
Results:
In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10− 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10− 10).
Conclusions:
These analyses highlight the potential value of autozygosity mapping in founder populations. |
|---|---|
| AbstractList | Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations. Methods: In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis. Results: In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10− 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10− 10). Conclusions: These analyses highlight the potential value of autozygosity mapping in founder populations. Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations. Methods: In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis. Results: In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10− 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10− 10). Conclusions: These analyses highlight the potential value of autozygosity mapping in founder populations. Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations.BACKGROUNDAutozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations.In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis.METHODSIn this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis.In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10- 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10- 10).RESULTSIn genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10- 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10- 10).These analyses highlight the potential value of autozygosity mapping in founder populations.CONCLUSIONSThese analyses highlight the potential value of autozygosity mapping in founder populations. Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations. In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis. In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10- 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10- 10). These analyses highlight the potential value of autozygosity mapping in founder populations. Abstract Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations. Methods: In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis. Results: In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 × 10− 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 × 10− 10). Conclusions: These analyses highlight the potential value of autozygosity mapping in founder populations. Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations. Methods: In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA. We estimated the average length of an ROH segment to be 6350 KB, with each individual having on average 17.2 segments 1.5 KB or larger. Measurements of genome-wide and regional FROH were used as the primary predictors of trait variation in association analysis. Results: In genome-wide FROH analysis, we did not identify any associations that withstood Bonferroni-correction (p = 0.0005). However, on regional FROH analysis, we identified associations exceeding genome-wide thresholds for two traits: serum bilirubin levels, which were significantly associated with a region on chromosome 2 localized to a region surrounding UGT1A10 (p = 1 x 10- 43), and HbA1c levels, which were significantly associated with a region on chromosome 8 localized near CHRNB3 (p = 8 x 10- 10). Conclusions: These analyses highlight the potential value of autozygosity mapping in founder populations. Keywords: Autozygosity, Runs of Homozygosity, Founder population genetics, Amish |
| ArticleNumber | 134 |
| Audience | Academic |
| Author | Lynch, Megan T. Maloney, Kristin A. Mitchell, Braxton D. Perry, James A. Shuldiner, Alan R. Xu, Huichun Center, Regeneron Genetics |
| Author_xml | – sequence: 1 givenname: Megan T. surname: Lynch fullname: Lynch, Megan T. email: mlynch42@jhu.edu organization: Department of Medicine Baltimore, University of Maryland School of Medicine, University of Maryland School of Medicine, Program for Personalized and Genomic Medicine – sequence: 2 givenname: Kristin A. surname: Maloney fullname: Maloney, Kristin A. organization: Department of Medicine Baltimore, University of Maryland School of Medicine, University of Maryland School of Medicine, Program for Personalized and Genomic Medicine – sequence: 3 givenname: Huichun surname: Xu fullname: Xu, Huichun organization: Department of Medicine Baltimore, University of Maryland School of Medicine, University of Maryland School of Medicine, Program for Personalized and Genomic Medicine – sequence: 4 givenname: James A. surname: Perry fullname: Perry, James A. organization: Department of Medicine Baltimore, University of Maryland School of Medicine, University of Maryland School of Medicine, Program for Personalized and Genomic Medicine – sequence: 5 givenname: Regeneron Genetics surname: Center fullname: Center, Regeneron Genetics organization: Regeneron Genetics Center LLC – sequence: 6 givenname: Alan R. surname: Shuldiner fullname: Shuldiner, Alan R. organization: Regeneron Genetics Center LLC – sequence: 7 givenname: Braxton D. surname: Mitchell fullname: Mitchell, Braxton D. organization: Department of Medicine Baltimore, University of Maryland School of Medicine, University of Maryland School of Medicine, Program for Personalized and Genomic Medicine, Baltimore Veterans Administration Medical Center Geriatrics Research and Education Clinical Center |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/36941539$$D View this record in MEDLINE/PubMed |
| BookMark | eNp9kktr3DAUhU1JaR7tH-iiCLppF071si2tyhD6GAgU-lgLWb7yaLCtqSQ3mf76amaSkiklaCFx9Z3DvdI5L04mP0FRvCT4khBRv4uEipqXmLISS4pFWT0pzghvSElJzU8enE-L8xjXGJNG0OpZccpqyUnF5FmhFjF643RyforIW9TD5Ecob1wHSE8dCtDnKz0gPSf_e9v76NIW3bi0QrJGxo-bAW5RCtqliNyE_NAhHzoIaDG6uHpePLV6iPDibr8ofnz88P3qc3n95dPyanFdmprwVGosKstobYABdMQSg2vOiWyZ5blXAN7W1JC2ZtYyIQG3hliLG1vVxpJWs4tiefDtvF6rTXCjDlvltVP7gg-90iE5M4CqWytZw7WsAHPBupY0uNNC6k5KClhkr_cHr83cjtAZmPJ4w5Hp8c3kVqr3vxTBmOaPoNnhzZ1D8D9niEnltzAwDHoCP0dFGyEp46whGX19QHude3OT9dnS7HC1aDilDSWCZ-ryP1ReHYzO5FhYl-tHgrdHgswkuE29nmNUy29fj9lXD-f9O-h9SjIgDoAJPsYAVhmX9pHZ_fuQ51a7QKpDIFV-ALUPpKqylP4jvXd_VMQOopjhqYeg1n4OOYTxMdUf9IXxkA |
| CitedBy_id | crossref_primary_10_1097_MOP_0000000000001392 crossref_primary_10_1038_s41431_025_01799_9 |
| Cites_doi | 10.1186/1755-8166-2-22 10.1126/science.1161524 10.1038/nrg.2017.109 10.1111/ajo.12493 10.1186/1471-2261-12-16 10.1093/hmg/ddq198 10.1038/nature14618 10.1038/ng1263 10.1002/gepi.20344 10.1093/hmg/ddu308 10.1016/j.ajhg.2015.06.001 10.1016/j.ygeno.2015.01.002 10.1161/CIRCGEN.120.003133 10.1371/journal.pgen.1002655 10.1111/j.1365-3016.2008.00988.x 10.1126/science.2884728 10.1016/j.ajhg.2008.08.007 10.1186/s13742-015-0047-8 10.1136/bmjdrc-2019-000912 10.1136/hrt.2003.013631 10.1016/j.ajhg.2013.05.003 10.2337/db17-0173 10.1001/archinternmed.2010.384 10.1038/mp.2015.120 10.1161/CIRCULATIONAHA.106.633206 10.1093/bioinformatics/btx102 10.1073/pnas.1621096114 |
| ContentType | Journal Article |
| Copyright | The Author(s) 2023 2023. The Author(s). COPYRIGHT 2023 BioMed Central Ltd. |
| Copyright_xml | – notice: The Author(s) 2023 – notice: 2023. The Author(s). – notice: COPYRIGHT 2023 BioMed Central Ltd. |
| DBID | C6C AAYXX CITATION CGR CUY CVF ECM EIF NPM ISR 7X8 5PM DOA |
| DOI | 10.1186/s12864-023-09208-5 |
| DatabaseName | Springer Nature OA Free Journals CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Science in Context MEDLINE - Academic PubMed Central (Full Participant titles) DOAJ Directory of Open Access Journals |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE - Academic MEDLINE CrossRef |
| Database_xml | – sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 3 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Biology |
| EISSN | 1471-2164 |
| EndPage | 9 |
| ExternalDocumentID | oai_doaj_org_article_6bf9374a95e0483db170da89ad992e08 PMC10029202 A742272184 36941539 10_1186_s12864_023_09208_5 |
| Genre | Journal Article |
| GeographicLocations | United States |
| GeographicLocations_xml | – name: United States |
| GrantInformation_xml | – fundername: University of Maryland School of Medicine Program for Personalized and Genomic Medicine – fundername: Regeneron Pharmaceuticals funderid: http://dx.doi.org/10.13039/100009857 – fundername: ; |
| GroupedDBID | --- 0R~ 23N 2WC 2XV 53G 5VS 6J9 7X7 88E 8AO 8FE 8FH 8FI 8FJ AAFWJ AAHBH AAJSJ AASML ABDBF ABUWG ACGFO ACGFS ACIHN ACIWK ACPRK ACUHS ADBBV ADUKV AEAQA AENEX AEUYN AFKRA AFPKN AFRAH AHBYD AHMBA AHYZX ALMA_UNASSIGNED_HOLDINGS AMKLP AMTXH AOIJS BAPOH BAWUL BBNVY BCNDV BENPR BFQNJ BHPHI BMC BPHCQ BVXVI C6C CCPQU CS3 DIK DU5 E3Z EAD EAP EAS EBD EBLON EBS EMB EMK EMOBN ESX F5P FYUFA GROUPED_DOAJ GX1 HCIFZ HMCUK IAO IGS IHR INH INR ISR ITC KQ8 LK8 M1P M48 M7P M~E O5R O5S OK1 OVT P2P PGMZT PHGZM PHGZT PIMPY PJZUB PPXIY PQGLB PQQKQ PROAC PSQYO PUEGO RBZ RNS ROL RPM RSV SBL SOJ SV3 TR2 TUS U2A UKHRP W2D WOQ WOW XSB AAYXX AFFHD CITATION -A0 3V. ACRMQ ADINQ AIXEN ALIPV C24 CGR CUY CVF ECM EIF NPM 7X8 5PM |
| ID | FETCH-LOGICAL-c614t-a085f326ce3eed1f1c064419b3f4694ee4b62c1b63ff389e0bc1ff07f56cf1ba3 |
| IEDL.DBID | RSV |
| ISICitedReferencesCount | 2 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000953898600005&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1471-2164 |
| IngestDate | Mon Nov 10 04:27:42 EST 2025 Tue Nov 04 02:07:02 EST 2025 Fri Sep 05 09:12:25 EDT 2025 Tue Nov 11 10:20:13 EST 2025 Tue Nov 04 17:22:17 EST 2025 Wed Nov 26 11:28:16 EST 2025 Thu Jan 02 22:53:05 EST 2025 Tue Nov 18 22:13:30 EST 2025 Sat Nov 29 01:46:19 EST 2025 Sat Sep 06 07:21:49 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Keywords | Autozygosity Runs of Homozygosity Amish Founder population genetics |
| Language | English |
| License | 2023. The Author(s). Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c614t-a085f326ce3eed1f1c064419b3f4694ee4b62c1b63ff389e0bc1ff07f56cf1ba3 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
| OpenAccessLink | https://link.springer.com/10.1186/s12864-023-09208-5 |
| PMID | 36941539 |
| PQID | 2789234371 |
| PQPubID | 23479 |
| PageCount | 9 |
| ParticipantIDs | doaj_primary_oai_doaj_org_article_6bf9374a95e0483db170da89ad992e08 pubmedcentral_primary_oai_pubmedcentral_nih_gov_10029202 proquest_miscellaneous_2789234371 gale_infotracmisc_A742272184 gale_infotracacademiconefile_A742272184 gale_incontextgauss_ISR_A742272184 pubmed_primary_36941539 crossref_citationtrail_10_1186_s12864_023_09208_5 crossref_primary_10_1186_s12864_023_09208_5 springer_journals_10_1186_s12864_023_09208_5 |
| PublicationCentury | 2000 |
| PublicationDate | 2023-03-20 |
| PublicationDateYYYYMMDD | 2023-03-20 |
| PublicationDate_xml | – month: 03 year: 2023 text: 2023-03-20 day: 20 |
| PublicationDecade | 2020 |
| PublicationPlace | London |
| PublicationPlace_xml | – name: London – name: England |
| PublicationTitle | BMC genomics |
| PublicationTitleAbbrev | BMC Genomics |
| PublicationTitleAlternate | BMC Genomics |
| PublicationYear | 2023 |
| Publisher | BioMed Central BioMed Central Ltd BMC |
| Publisher_xml | – name: BioMed Central – name: BioMed Central Ltd – name: BMC |
| References | S Kapurubandara (9208_CR6) 2016; 56 S Assaf (9208_CR7) 2009; 23 FC Ceballos (9208_CR26) 2018; 19 9208_CR20 PK Joshi (9208_CR5) 2015; 523 ZA Szpiech (9208_CR12) 2013; 93 S Wang (9208_CR10) 2009; 33 F Sheth (9208_CR28) 2009; 2 R McQuillan (9208_CR4) 2012; 8 A Beja-Pereira (9208_CR22) 2003; 35 EA Streeten (9208_CR29) 2020; 13 S He (9208_CR13) 2020; 8 S Mukherjee (9208_CR27) 2014; 23 9208_CR11 TI Pollin (9208_CR19) 2008; 322 DP Howrigan (9208_CR25) 2016; 21 P Christofidou (9208_CR3) 2015; 97 L Yengo (9208_CR8) 2017; 114 RL McLaughlin (9208_CR9) 2015; 105 H Shen (9208_CR18) 2010; 170 R McQuillan (9208_CR16) 2008; 83 M Nothnagel (9208_CR21) 2010; 19 J-P Lin (9208_CR24) 2006; 114 J Ismail (9208_CR2) 2004; 90 PF McArdle (9208_CR23) 2012; 12 E Lander (9208_CR1) 1987; 236 9208_CR14 9208_CR15 9208_CR17 |
| References_xml | – volume: 2 start-page: 22 year: 2009 ident: 9208_CR28 publication-title: Mol Cytogenet doi: 10.1186/1755-8166-2-22 – volume: 322 start-page: 1702 year: 2008 ident: 9208_CR19 publication-title: Science doi: 10.1126/science.1161524 – volume: 19 start-page: 220 year: 2018 ident: 9208_CR26 publication-title: Nat Rev Genet doi: 10.1038/nrg.2017.109 – volume: 56 start-page: 599 year: 2016 ident: 9208_CR6 publication-title: Aust N Z J Obstet Gynaecol doi: 10.1111/ajo.12493 – volume: 12 start-page: 16 year: 2012 ident: 9208_CR23 publication-title: BMC Cardiovasc Disord doi: 10.1186/1471-2261-12-16 – volume: 19 start-page: 2927 year: 2010 ident: 9208_CR21 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddq198 – volume: 523 start-page: 459 year: 2015 ident: 9208_CR5 publication-title: Nature doi: 10.1038/nature14618 – volume: 35 start-page: 311 year: 2003 ident: 9208_CR22 publication-title: Nat Genet doi: 10.1038/ng1263 – volume: 33 start-page: 172 year: 2009 ident: 9208_CR10 publication-title: Genet Epidemiol doi: 10.1002/gepi.20344 – volume: 23 start-page: 6088 year: 2014 ident: 9208_CR27 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddu308 – volume: 97 start-page: 228 year: 2015 ident: 9208_CR3 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2015.06.001 – volume: 105 start-page: 237 year: 2015 ident: 9208_CR9 publication-title: Genomics doi: 10.1016/j.ygeno.2015.01.002 – volume: 13 start-page: e003133 year: 2020 ident: 9208_CR29 publication-title: Circ Genom Precis Med doi: 10.1161/CIRCGEN.120.003133 – volume: 8 start-page: e1002655 year: 2012 ident: 9208_CR4 publication-title: PLoS Genet doi: 10.1371/journal.pgen.1002655 – volume: 23 start-page: 107 year: 2009 ident: 9208_CR7 publication-title: Paediatr Perinat Epidemiol doi: 10.1111/j.1365-3016.2008.00988.x – ident: 9208_CR20 – volume: 236 start-page: 1567 year: 1987 ident: 9208_CR1 publication-title: Science doi: 10.1126/science.2884728 – volume: 83 start-page: 359 year: 2008 ident: 9208_CR16 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2008.08.007 – ident: 9208_CR15 doi: 10.1186/s13742-015-0047-8 – volume: 8 start-page: e000912 year: 2020 ident: 9208_CR13 publication-title: BMJ Open Diab Res Care doi: 10.1136/bmjdrc-2019-000912 – volume: 90 start-page: 259 year: 2004 ident: 9208_CR2 publication-title: Heart doi: 10.1136/hrt.2003.013631 – ident: 9208_CR11 – volume: 93 start-page: 90 year: 2013 ident: 9208_CR12 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.05.003 – ident: 9208_CR14 doi: 10.2337/db17-0173 – volume: 170 start-page: 1850 year: 2010 ident: 9208_CR18 publication-title: Arch Intern Med doi: 10.1001/archinternmed.2010.384 – volume: 21 start-page: 837 year: 2016 ident: 9208_CR25 publication-title: Mol Psychiatry doi: 10.1038/mp.2015.120 – volume: 114 start-page: 1476 year: 2006 ident: 9208_CR24 publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.106.633206 – ident: 9208_CR17 doi: 10.1093/bioinformatics/btx102 – volume: 114 start-page: 8602 year: 2017 ident: 9208_CR8 publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.1621096114 |
| SSID | ssj0017825 |
| Score | 2.4071674 |
| Snippet | Background:
Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits... Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting... Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits... Abstract Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related... |
| SourceID | doaj pubmedcentral proquest gale pubmed crossref springer |
| SourceType | Open Website Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 134 |
| SubjectTerms | Amish Amish - genetics Animal Genetics and Genomics Autozygosity Biomedical and Life Sciences Founder population genetics Genetic aspects Genetic research Genome Health aspects Homozygosity Homozygote Humans Inbreeding Life Sciences Microarrays Microbial Genetics and Genomics Multifactorial Inheritance Plant Genetics and Genomics Polymorphism, Single Nucleotide Population genetics Proteomics Runs of Homozygosity |
| SummonAdditionalLinks | – databaseName: DOAJ Directory of Open Access Journals dbid: DOA link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1ba9VAEF6kKPgi9R5bZRXBBw3NZpO9PB7FoiBFvNG3JdlLe6BNpMlRj7_emU1yOKlQX3zc7ASyM7Mzs9mZbwh5DiGtLGqO-1vytKhzl1YsCzAMjodaMh-r0r59kEdH6vhYf9xq9YU5YQM88MC4A1EH8KBFpUuP6OeuZjJzldKV0zr3Q5lvJvV0mBrvD8DvlVOJjBIHHVhhUaTgn9JM55lKy5kbimj9f9vkLad0OWHy0q1pdEaHu-TWGEXSxfD1t8k139whN4a-kuu7xGwxvaNtoIjEeu7Tn0vnadU4iu0YMASn1apvf69PMHNrTfGfLNWCxjRz_4ti-4i-o8uGtmeORpBOugC9OL1Hvh6-_fLmXTp2UkgtuN8-rSCwChCoWc_BJ7LAbIZxkK55gONx4X1Ri9yyWvAQIILxWW1ZCJkMpbCB1RW_T3aatvEPCXUw0iowp4QrlOfKeqFdpqzUQgovEsImxho7wozj556ZeNxQwgzCMCAME4VhyoS83LzzfQDZuJL6NcprQ4kA2fEBqI0Z1cb8S20S8gylbRACo8Ecm5Nq1XXm_edPZiGLPJd49E3Ii5EotLAGW40lC8AJRM2aUe7PKEEWdjb9dFIqg1OY2Nb4dtUZLETOecElS8iDQck2C-NYZFxynRA1U7_ZyuczzfI0QoQjsC5wK0_Iq0lTzWicuitY--h_sHaP3MzjTuNggvfJTn-x8o_JdfujX3YXT-I-_QOr8z5w priority: 102 providerName: Directory of Open Access Journals |
| Title | Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish |
| URI | https://link.springer.com/article/10.1186/s12864-023-09208-5 https://www.ncbi.nlm.nih.gov/pubmed/36941539 https://www.proquest.com/docview/2789234371 https://pubmed.ncbi.nlm.nih.gov/PMC10029202 https://doaj.org/article/6bf9374a95e0483db170da89ad992e08 |
| Volume | 24 |
| WOSCitedRecordID | wos000953898600005&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVADU databaseName: Open Access: BioMedCentral Open Access Titles customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: RBZ dateStart: 20000101 isFulltext: true titleUrlDefault: https://www.biomedcentral.com/search/ providerName: BioMedCentral – providerCode: PRVAON databaseName: DOAJ Directory of Open Access Journals customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: DOA dateStart: 20000101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals – providerCode: PRVHPJ databaseName: ROAD: Directory of Open Access Scholarly Resources customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: M~E dateStart: 20000101 isFulltext: true titleUrlDefault: https://road.issn.org providerName: ISSN International Centre – providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: M7P dateStart: 20090101 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: 7X7 dateStart: 20090101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: BENPR dateStart: 20090101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: Publicly Available Content Database customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: PIMPY dateStart: 20090101 isFulltext: true titleUrlDefault: http://search.proquest.com/publiccontent providerName: ProQuest – providerCode: PRVAVX databaseName: SpringerLINK Contemporary 1997-Present customDbUrl: eissn: 1471-2164 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0017825 issn: 1471-2164 databaseCode: RSV dateStart: 20001201 isFulltext: true titleUrlDefault: https://link.springer.com/search?facet-content-type=%22Journal%22 providerName: Springer Nature |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3db9MwELfYBhIvfH8ERmUQEg8QEceJPx47tIlJUFUdTOXJSvzRVRoJalqg_PX43KRaBpoEL5Fin6X4fL47x3e_Q-ild2l5VlLY35zGWZmauCCJ86_OUFdyYkNW2ukHPhqJ6VSO26Swpot2764kg6YO21qwt43XpCyLvY2JE5kmIs530J43dwIKNkxOTrd3B97m5V16zF_H9UxQQOr_Ux9fMEiXgyUv3ZgGQ3R0-_-mcAfdah1PPNxIyl10zVb30I1NKcr1faQurFODa4cBvPWrjX_MjcVFZTBUcACvHRerZf1rPYNgrzWG37hYMhwi0-1PDBUnlg2eV7g-NzjgeuKhF6WzB-jz0eGnd-_jtvhCrL3FXsaF98Wc9-20pd6MEkd0Aq6TLKnzJ-rM2qxkqSYlo855p8cmpSbOJdzlTDtSFvQh2q3qyj5G2Pg3KRwxgplMWCq0ZdIkQnPJOLMsQqRbD6VbZHL43HMVTiiCqQ3jlGecCoxTeYReb8d82-ByXEl9AMu8pQRM7dBQL2aq3aKKlc77alkhcws4-6YkPDGFkIWRMrWJiNALEBIFqBkVhOXMilXTqOOTiRryLE05nJYj9KolcrWfgy7aLAfPCQDa6lHu9yj9Wuhe9_NOFhV0QSxcZetVoyB3OaUZ5SRCjzayuZ0YhbzknMoIiZ7U9mbe76nmZwFVHLB4PbfSCL3phFe1-qy5grVP_o38KbqZBvmnXj_vo93lYmWfoev6-3LeLAZoh095eIoB2js4HI0ng_CXZAAxuWPfNj7-OP4yCBv-N3w_SdI |
| linkProvider | Springer Nature |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Jb9QwFLaggMqFfQkUMAiJQ4mI48TLcUBUrRhGqC1Vb1biZTpSm6BJBhh-PX6eZNQUVAmOiZ-l-O2O3_uM0Guf0vKspGDfnMZZmZq4IInzj85QV3JiQ1fa0ZhPJuL4WH7pmsKavtq9P5IMnjqYtWDvGu9JWRb7GBMnMk1EnF9F1zIfsQAxf__gaH124GNe3rfH_HXeIAQFpP4__fG5gHSxWPLCiWkIRDu3_28Jd9CtLvHEo5Wm3EVXbHUP3VhdRbm8j9Q5OTW4dhjAW89s_GNmLC4qg-EGB8jacbFo61_LKRR7LTH8xsWS4VCZbn9iuHGibfCswvWpwQHXE4-8Kp08QF93Ph5-2I27yxdi7SN2Gxc-F3M-t9OW-jBKHNEJpE6ypM7vqDNrs5KlmpSMOueTHpuUmjiXcJcz7UhZ0Idoo6or-xhh45-kcMQIZjJhqdCWSZMIzSXjzLIIkV4eSnfI5PC5pyrsUARTK8YpzzgVGKfyCG2v53xb4XJcSv0exLymBEzt8KKeT1VnooqVzudqWSFzCzj7piQ8MYWQhZEytYmI0CtQEgWoGRWU5UyLRdOovYN9NeJZmnLYLUfoTUfkar8GXXRdDp4TALQ1oNwaUHpZ6MHwy14XFQxBLVxl60WjoHc5pRnlJEKPVrq5XhiFvuScygiJgdYOVj4cqWYnAVUcsHg9t9IIve2VV3X-rLmEtU_-jfwF2tw9_DxW473Jp6foZhpsgXpfvYU22vnCPkPX9fd21syfB6P-Da9VRbE |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Zb9QwELagHOKF-wgUMAiJhxI1jhMfj8uxoqJaVRSqvlmJj-1KJak2WWD59Xic7GpTUCXEY-KxFI_njGc-I_TKh7Q8KynoN6dxVqYmLkji_KMz1JWc2NCVdrTPJxNxfCwPNrr4Q7X76kiy62kAlKaq3T0zrlNxwXYbb1VZFnt_EycyTUScX0ZXMiikh3z98Gh9juD9X75qlfnrvIE7Cqj9f9rmDed0vnDy3OlpcErjW_-_nNvoZh-Q4lEnQXfQJVvdRde6KyqX95Da2L8G1w4DqOs3G_-YGYuLymC42QGieVws2vrXcgpFYEsMv3exZDhUrNufGG6iaBs8q3B9anDA-8QjL2In99HX8Ycv7z7G_aUMsfaevI0Lz2TnYz5tqXevxBGdQEglS-p8pp1Zm5Us1aRk1DkfDNmk1MS5hLucaUfKgj5AW1Vd2UcIG_8khSNGMJMJS4W2TJpEaC4ZZ5ZFiKz2RukesRw-91SFzEUw1TFOecapwDiVR2hnPeesw-u4kPotbPmaErC2w4t6PlW96ipWOh_DZYXMLeDvm5LwxBRCFkbK1CYiQi9BYBSgaVRQrjMtFk2j9g4_qxHP0pRDFh2h1z2Rq_0adNF3P3hOAADXgHJ7QOn3Qg-GX6zkUsEQ1MhVtl40CnqaU5pRTiL0sJPT9cIo9CvnVEZIDCR4sPLhSDU7CWjjgNHruZVG6M1KkFVv55oLWPv438ifo-sH78dqf2_y6Qm6kQZVoN6Eb6Otdr6wT9FV_b2dNfNnQb9_A4qqTpU |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Associations+of+genome-wide+and+regional+autozygosity+with+96+complex+traits+in+old+order+Amish&rft.jtitle=BMC+genomics&rft.au=Lynch%2C+Megan+T.&rft.au=Maloney%2C+Kristin+A.&rft.au=Xu%2C+Huichun&rft.au=Perry%2C+James+A.&rft.date=2023-03-20&rft.issn=1471-2164&rft.eissn=1471-2164&rft.volume=24&rft.issue=1&rft_id=info:doi/10.1186%2Fs12864-023-09208-5&rft.externalDBID=n%2Fa&rft.externalDocID=10_1186_s12864_023_09208_5 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1471-2164&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1471-2164&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1471-2164&client=summon |