Exome-wide assessment of isolated biliary atresia: A report from the
National Birth Defects Prevention Study using child–parent trios and a
case–control design to identify novel rare variants

Sok, Pagna; Sabo, Aniko; Almli, Lynn M.; Jenkins, Mary M.; Nembhard, Wendy N.; Agopian, A. J.; Bamshad, Michael J.; Blue, Elizabeth E.; Brody, Lawrence C.; Brown, Austin L.; Browne, Marilyn L.; Canfield, Mark A.; Carmichael, Suzan L.; Chong, Jessica X.; Dugan-Perez, Shannon; Feldkamp, Marcia L.; Finnell, Richard H.; Gibbs, Richard A.; Kay, Denise M.; Lei, Yunping; Meng, Qingchang; Moore, Cynthia A.; Mullikin, James C.; Muzny, Donna; Olshan, Andrew F.; Pangilinan, Faith; Reefhuis, Jennita; Romitti, Paul A.; Schraw, Jeremy M.; Shaw, Gary M.; Werler, Martha M.; Harpavat, Sanjiv; Lupo, Philip J.

doi:10.1002/ajmg.a.63185

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Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

6 2023
By Sok, Pagna ; Sabo, Aniko ; Almli, Lynn M. ; ...
http://dx.doi.org/10.1002/ajmg.a.63185
Source: Am J Med Genet A. 191(6):1546-1556

[PDF-514.20 KB]

English

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Details:

Alternative Title:

Am J Med Genet A
Personal Author:

Sok, Pagna ; Sabo, Aniko ; Almli, Lynn M. ; Jenkins, Mary M. ; Nembhard, Wendy N. ; ... More +

Sok, Pagna ; Sabo, Aniko ; Almli, Lynn M. ; Jenkins, Mary M. ; Nembhard, Wendy N. ; Agopian, A. J. ; Bamshad, Michael J. ; Blue, Elizabeth E. ; Brody, Lawrence C. ; Brown, Austin L. ; Browne, Marilyn L. ; Canfield, Mark A. ; Carmichael, Suzan L. ; Chong, Jessica X. ; Dugan-Perez, Shannon ; Feldkamp, Marcia L. ; Finnell, Richard H. ; Gibbs, Richard A. ; Kay, Denise M. ; Lei, Yunping ; Meng, Qingchang ; Moore, Cynthia A. ; Mullikin, James C. ; Muzny, Donna ; Olshan, Andrew F. ; Pangilinan, Faith ; Reefhuis, Jennita ; Romitti, Paul A. ; Schraw, Jeremy M. ; Shaw, Gary M. ; Werler, Martha M. ; Harpavat, Sanjiv ; Lupo, Philip J. Less -
Corporate Authors:

University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study
Description:

The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child-parent trios, one child-mother duo, and 1513 parents of children with other birth defects were analyzed. Most (91%) cases were isolated BA. We performed (1) a trio-based analysis to identify rare de novo, homozygous, and compound heterozygous PAVs and (2) a case-control analysis using a sequence kernel-based association test to identify genes enriched with rare PAVs. While we replicated previous findings on PKD1L1, our results do not suggest that recurrent de novo PAVs play important roles in BA susceptibility. In fact, our finding in NOTCH2, a disease gene associated with Alagille syndrome, highlights the difficulty in BA diagnosis. Notably, IFRD2 has been implicated in other gastrointestinal conditions and warrants additional study. Overall, our findings strengthen the hypothesis that the etiology of BA is complex.
Subjects:

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Biliary Atresia Case-Control Studies Exome Homozygote Humans Membrane Proteins Parents
Keywords:

[+]

Biliary Atresia Birth Defect NBDPS Rare Variants Whole Exome Sequencing
Source:

Am J Med Genet A. 191(6):1546-1556
Pubmed ID:

36942736
Pubmed Central ID:

PMC10947986
Document Type:

Journal Article
Funding:

U01 DD001285/DD/NCBDD CDC HHSUnited States/ ; U01DD001285/ACL/ACL HHSUnited States/ ; P30 ES030285/ES/NIEHS NIH HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; EP-D-18-001/EPA/EPAUnited States/ ; ... More +

U01 DD001285/DD/NCBDD CDC HHSUnited States/ ; U01DD001285/ACL/ACL HHSUnited States/ ; P30 ES030285/ES/NIEHS NIH HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; EP-D-18-001/EPA/EPAUnited States/ ; UM1 HG006493/HG/NHGRI NIH HHSUnited States/ ; U24 HG008956/HG/NHGRI NIH HHSUnited States/ ; R01 HD093660/HD/NICHD NIH HHSUnited States/ ; U01 DD001229/DD/NCBDD CDC HHSUnited States/ ; CDP 13-003/HX/HSRD VAUnited States/ Less -
Collection(s):

CDC Public Access
Main Document Checksum:

[+]

urn:sha256:f017b27e22b40a3e5e894164c2835d2a381e7633236acd0eb84f79c77299873b
Download URL:

https://stacks.cdc.gov/view/cdc/151757/cdc_151757_DS1.pdf
File Type:

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	nihms-1964254-f0001.jpg	jpeg
	nihms-1964254.nxml	xml
	NIHMS1964254-supplement-SUP-_Sok_etal_-_Exome_wide_assessment_of_isolated_biliary_atresia.docx	docx

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