東華大學圖書館 |

Language: English

Help

回圖書館首頁

手機版館藏查詢

Back

Switch To: Labeled | MARC Mode | ISBD

Linked to FindBook

Google Book

Amazon

博客來

Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age Children.

Record Type:	Electronic resources : Monograph/item
Title/Author:	Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age Children./
Author:	Shrestha, Poojan.
Description:	1 online resource (270 pages)
Notes:	Source: Dissertations Abstracts International, Volume: 84-11, Section: B.
Contained By:	Dissertations Abstracts International84-11B.
Subject:	Epidemiology. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=30419852click for full text (PQDT)
ISBN:	9798379554873

Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age Children.
Shrestha, Poojan.

Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age Children. - 1 online resource (270 pages)

Source: Dissertations Abstracts International, Volume: 84-11, Section: B.

Thesis (Ph.D.)--The University of North Carolina at Chapel Hill, 2023.

Includes bibliographical references

Early childhood caries (ECC) is the most common non-communicable disease of childhood and it confers a substantial public health burden. Developmental defects of enamel (DDE) are a heterogeneous group of conditions resulting from qualitative or quantitative defects of dental enamel. Both are complex traits and their genetic underpinning has been well established. However, evidence on specific genetic risk loci underlying these conditions is lacking. To address this knowledge gap, we carried out a genome-wide association study (GWAS) in a multi-ethnic population of preschool-age children with the overarching goal of identifying genetic risk loci for ECC and DDE. Specifically, we employed 3 genetic association analysis approaches that, while seeking to identify genetic 'main effects', leveraged heterogeneity and interactions with important environmental factors for ECC, including sugar and fluoride exposure, as well as sex. We estimated 24% and 20% of the phenotypic variance of the primary ECC and the combined DDE traits were explained by common SNPs. We identified multiple risk loci associated with ECC and DDE, with most showing heterogeneous associations across strata of the 3 examined environmental factors. We identified 21 novel loci for ECC, with 18 of those emerging after accounting for sex, fluoride exposure, and sugar exposure. For DDE, we identified 38 genetic risk loci associated with DDE, with 18 of those emerging from analyses accounting for sex heterogeneity. Multiple identified loci were near genes with biologically plausible roles in the pathogenesis of ECC and DDE. Two loci, namely, RP11-856F16.2 (rs74606067), and SLC41A3 (rs71327750) generalized in external pediatric and adult cohorts. The gene-based tests identified TAAR6 and CDH10 as genome-wide significant genes for ECC and DDE traits, respectively. These results add to the genomics knowledge base for these common complex dental conditions. The findings of substantial heterogeneity of genetic effects across different levels of environmental factors including sex emphasize further investigation into these pertinent environmental exposures and their inclusion in future genetic studies of oral health. Upon further replication and mechanistic validation, these results can inform caries risk assessment, the development of polygenic risk scores to guide preventive and treatment modalities, and eventually in precision dentistry applications.

Electronic reproduction.
Ann Arbor, Mich. :
ProQuest,
2023

Mode of access: World Wide Web

ISBN: 9798379554873Subjects--Topical Terms:

568544
Epidemiology.
Subjects--Index Terms:

Developmental defects of enamelIndex Terms--Genre/Form:

542853
Electronic books.

Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age Children.
LDR:03941nmm a2200385K 4500 001 2365773
005 20231218204706.5
006 m o d
007 cr mn ---uuuuu
008 241011s2023 xx obm 000 0 eng d
020 $a 9798379554873
035 $a (MiAaPQ)AAI30419852
035 $a AAI30419852
040 $a MiAaPQ $b eng $c MiAaPQ $d NTU
100 1 $a Shrestha, Poojan. $3 3706645
245 1 0 $a Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age Children.
264 0 $c 2023
300 $a 1 online resource (270 pages)
336 $a text $b txt $2 rdacontent
337 $a computer $b c $2 rdamedia
338 $a online resource $b cr $2 rdacarrier
500 $a Source: Dissertations Abstracts International, Volume: 84-11, Section: B.
500 $a Advisor: North, Kari E.
502 $a Thesis (Ph.D.)--The University of North Carolina at Chapel Hill, 2023.
504 $a Includes bibliographical references
520 $a Early childhood caries (ECC) is the most common non-communicable disease of childhood and it confers a substantial public health burden. Developmental defects of enamel (DDE) are a heterogeneous group of conditions resulting from qualitative or quantitative defects of dental enamel. Both are complex traits and their genetic underpinning has been well established. However, evidence on specific genetic risk loci underlying these conditions is lacking. To address this knowledge gap, we carried out a genome-wide association study (GWAS) in a multi-ethnic population of preschool-age children with the overarching goal of identifying genetic risk loci for ECC and DDE. Specifically, we employed 3 genetic association analysis approaches that, while seeking to identify genetic 'main effects', leveraged heterogeneity and interactions with important environmental factors for ECC, including sugar and fluoride exposure, as well as sex. We estimated 24% and 20% of the phenotypic variance of the primary ECC and the combined DDE traits were explained by common SNPs. We identified multiple risk loci associated with ECC and DDE, with most showing heterogeneous associations across strata of the 3 examined environmental factors. We identified 21 novel loci for ECC, with 18 of those emerging after accounting for sex, fluoride exposure, and sugar exposure. For DDE, we identified 38 genetic risk loci associated with DDE, with 18 of those emerging from analyses accounting for sex heterogeneity. Multiple identified loci were near genes with biologically plausible roles in the pathogenesis of ECC and DDE. Two loci, namely, RP11-856F16.2 (rs74606067), and SLC41A3 (rs71327750) generalized in external pediatric and adult cohorts. The gene-based tests identified TAAR6 and CDH10 as genome-wide significant genes for ECC and DDE traits, respectively. These results add to the genomics knowledge base for these common complex dental conditions. The findings of substantial heterogeneity of genetic effects across different levels of environmental factors including sex emphasize further investigation into these pertinent environmental exposures and their inclusion in future genetic studies of oral health. Upon further replication and mechanistic validation, these results can inform caries risk assessment, the development of polygenic risk scores to guide preventive and treatment modalities, and eventually in precision dentistry applications.
533 $a Electronic reproduction. $b Ann Arbor, Mich. : $c ProQuest, $d 2023
538 $a Mode of access: World Wide Web
650 4 $a Epidemiology. $3 568544
650 4 $a Genetics. $3 530508
650 4 $a Dentistry. $3 828971
653 $a Developmental defects of enamel
653 $a Early childhood caries
653 $a Gene environment interaction
653 $a Genome-wide association study
655 7 $a Electronic books. $2 lcsh $3 542853
690 $a 0766
690 $a 0369
690 $a 0567
710 2 $a ProQuest Information and Learning Co. $3 783688
710 2 $a The University of North Carolina at Chapel Hill. $b Epidemiology. $3 1269376
773 0 $t Dissertations Abstracts International $g 84-11B.
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=30419852 $z click for full text (PQDT)