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Pediatric Surgery International

Published in:

01-05-2018 | Original Article

Single nucleotide polymorphisms within Adducin 3 and Adducin 3 antisense RNA1 genes are associated with biliary atresia in Thai infants

Authors: Wison Laochareonsuk, Piyawan Chiengkriwate, Surasak Sangkhathat

Published in: Pediatric Surgery International | Issue 5/2018

Abstract

Background

A genome-wide association study in East Asians suggested a genetic association between biliary atresia (BA) and a cluster of variants within the Adducin 3 (ADD3) and ADD3 antisense RNA1 (ADD3-AS1) genes. Another study in Thai neonates reported an association between BA and rs17095355. To validate those findings, this study aimed to analyze the BA association with single nucleotide polymorphisms (SNPs) and the additive influence of ADD3 and ADD3-AS1 in Thai neonates.

Methods

DNAs from 56 BA cases and 166 controls were genotyped for rs2501577, rs11194981, rs12268910 (ADD3) and rs17095355 (ADD3-AS1), using TaqMan PCR. Genotype distributions were compared between the groups, and SNP–SNP interactions were analyzed by combination of allelotypes.

Results

The risk allele frequencies of rs2501577, rs11194981, and rs17095355 in the BA group were significantly higher than in the controls. Univariate analysis showed that recessive variants in the three SNPs were associated with BA risk at ORs of 1.81 (95% CI 1.32–2.50), 1.58 (95% CI 1.14–2.20) and 1.92 (95% CI 1.39–2.66), respectively. SNP–SNP interaction analysis showed that the SNP combination of the two genes rs17095355 and rs2501577 provided an additive increase in BA risk.

Conclusion

ADD3 and ADD3-AS1 variants increased susceptibility to BA, suggesting that these genes may play an additive role in the pathogenesis of the disease. In addition, these interactions may give a clue to the overexpression of the ADD3 protein in the liver of BA patients.

Joshi VV (1975) Pathology and pathogenesis of neonatal hepatitis and biliary atresia. Indian Pediatr 12(11):1057–1062PubMed

Haas JE (1978) Bile duct and liver pathology in biliary atresia. World J Surg 2(5):561–569CrossRefPubMed

Lakshminarayanan B, Davenport M (2016) Biliary atresia: A comprehensive review. J Autoimmun 73:1–9. https://doi.org/10.1016/j.jaut.2016.06.005 CrossRefPubMed

Wildhaber BE (2012) Biliary atresia: 50 years after the first kasai. ISRN Surg 2012:132089. https://doi.org/10.5402/2012/132089 CrossRefPubMedPubMedCentral

Bill AH, Brennom WS, Huseby TL (1974) Biliary atresia. New concepts of pathology, diagnosis, and management. Arch Surg 109(3):367–369CrossRefPubMed

Nizery L, Chardot C, Sissaoui S, Capito C, Henrion-Caude A, Debray D, Girard M (2016) Biliary atresia: Clinical advances and perspectives. Clin Res Hepatol Gastroenterol 40(3):281–287. https://doi.org/10.1016/j.clinre.2015.11.010 CrossRefPubMed

Orlowska E, Czubkowski P, Socha P (2017) [Biliary atresia - signs and symptoms, diagnosis, clinical management]. Wiad Lek 70(1):112–117PubMed

Lampela H, Pakarinen M (2013) [Biliary atresia] Duodecim 129(14):1485–1493PubMed

Moreira RK, Cabral R, Cowles RA, Lobritto SJ (2012) Biliary atresia: a multidisciplinary approach to diagnosis and management. Arch Pathol Lab Med 136(7):746–760. https://doi.org/10.5858/arpa.2011-0623-RA CrossRefPubMed

10.

Garcia-Barcelo MM, Yeung MY, Miao XP, Tang CS, Cheng G, So MT, Ngan ES, Lui VC, Chen Y, Liu XL, Hui KJ, Li L, Guo WH, Sun XB, Tou JF, Chan KW, Wu XZ, Song YQ, Chan D, Cheung K, Chung PH, Wong KK, Sham PC, Cherny SS, Tam PK (2010) Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. Hum Mol Genet 19(14):2917–2925. https://doi.org/10.1093/hmg/ddq196 CrossRefPubMedPubMedCentral

11.

Cheng G, Tang CS, Wong EH, Cheng WW, So MT, Miao X, Zhang R, Cui L, Liu X, Ngan ES, Lui VC, Chung PH, Chan IH, Liu J, Zhong W, Xia H, Yu J, Qiu X, Wu XZ, Wang B, Dong X, Tou J, Huang L, Yi B, Ren H, Chan EK, Ye K, O’Reilly PF, Wong KK, Sham PC, Cherny SS, Tam PK, Garcia-Barcelo MM (2013) Common genetic variants regulating ADD3 gene expression alter biliary atresia risk. J Hepatol 59(6):1285–1291. https://doi.org/10.1016/j.jhep.2013.07.021 CrossRefPubMed

12.

Matsuoka Y, Li X, Bennett V (2000) Adducin: structure, function and regulation. Cell Mol Life Sci 57(6):884–895. https://doi.org/10.1007/PL00000731 CrossRefPubMed

13.

Naydenov NG, Ivanov AI (2011) Spectrin-adducin membrane skeleton: A missing link between epithelial junctions and the actin cytoskeletion? Bioarchitecture 1. (4):186–191. https://doi.org/10.4161/bioa.1.4.17642

14.

Tsukada N, Ackerley CA, Phillips MJ (1995) The structure and organization of the bile canalicular cytoskeleton with special reference to actin and actin-binding proteins. Hepatology 21(4):1106–1113PubMed

15.

Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M (2014) Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 133(2):235–243. https://doi.org/10.1007/s00439-013-1368-2 CrossRefPubMed

16.

Kaewkiattiyot S, Honsawek S, Vejchapipat P, Chongsrisawat V, Poovorawan Y (2011) Association of X-prolyl aminopeptidase 1 rs17095355 polymorphism with biliary atresia in Thai children. Hepatology Research 41(12):1249–1252. https://doi.org/10.1111/j.1872-034X.2011.00870.x CrossRefPubMed

17.

Bhartiya D, Scaria V (2016) Genomic variations in non-coding RNAs: Structure, function and regulation. Genomics 107(2–3):59–68. https://doi.org/10.1016/j.ygeno.2016.01.005 CrossRefPubMed

18.

Fu XD (2014) Non-coding RNA: a new frontier in regulatory biology. Natl Sci Rev 1(2):190–204. https://doi.org/10.1093/nsr/nwu008 CrossRefPubMedPubMedCentral

19.

Tang V, Cofer ZC, Cui S, Sapp V, Loomes KM, Matthews RP (2016) Loss of a candidate biliary atresia susceptibility gene, add3a, causes biliary developmental defects in zebrafish. J Pediatr Gastroenterol Nutr 63(5):524–530. https://doi.org/10.1097/MPG.0000000000001375 CrossRefPubMedPubMedCentral

20.

Sangkhathat S, Maneechay W, Chaiyapan W, Kanngern S, Boonpipattanapong T (2015) Association of Wilms’ tumor 1 gene single-nucleotide polymorphism rs16754 with colorectal cancer. Mol Clin Oncol 3(6):1401–1405. https://doi.org/10.3892/mco.2015.647 CrossRefPubMedPubMedCentral

21.

Knol MJ, VanderWeele TJ, Groenwold RH, Klungel OH, Rovers MM, Grobbee DE (2011) Estimating measures of interaction on an additive scale for preventive exposures. Eur J Epidemiol 26(6):433–438. https://doi.org/10.1007/s10654-011-9554-9 CrossRefPubMedPubMedCentral

22.

Okazaki T, Kobayashi H, Yamataka A, Lane GJ, Miyano T (1999) Long-term postsurgical outcome of biliary atresia. J Pediatr Surg 34(2):312–315CrossRefPubMed

Title: Single nucleotide polymorphisms within Adducin 3 and Adducin 3 antisense RNA1 genes are associated with biliary atresia in Thai infants
Authors: Wison Laochareonsuk
Piyawan Chiengkriwate
Surasak Sangkhathat
Publication date: 01-05-2018
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Surgery International / Issue 5/2018
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-018-4243-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Single nucleotide polymorphisms within Adducin 3 and Adducin 3 antisense RNA1 genes are associated with biliary atresia in Thai infants

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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