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Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease

Authors
 Jin Sol Lee  ;  Jung-Tak Oh  ;  Jeong-Hyun Kim  ;  Jeong-Meen Seo  ;  Dae-Yeon Kim  ;  Kwi-Won Park  ;  Hyun-Young Kim  ;  Kyuwhan Jung  ;  Byung Lae Park  ;  InSong Koh  ;  Hyoung Doo Shin 
Citation
 JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, Vol.62(1) : 64-70, 2016 
Journal Title
 JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION 
ISSN
 0277-2116 
Issue Date
2016
MeSH
Case-Control Studies ; DNA Replication* ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Haplotypes ; Hirschsprung Disease / genetics* ; Humans ; Male ; Membrane Transport Proteins / genetics* ; Polymorphism, Single Nucleotide*
Abstract
Purpose: Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder, which is caused by no neuronal ganglion cells in part or all of distal gastrointestinal tract. Recently, our genome-wide association study has identified solute carrier family 6, proline IMINO transporter, member 20 (SLC6A20) as one of the potential risk factors for HSCR development. This study performed a replication study for the association of SLC6A20 polymorphisms with HSCR and an extended analysis to investigate further associations for subgroups and haplotypes. Methods: For the replication study, a total of 40 single nucleotide polymorphisms (SNPs) of SLC6A20 were genotyped in 187 HSCR subjects composed of 121 short-segment HSCR, 45 long-segment HSCR (L-HSCR), 21 total colonic aganglionosis, and 283 unaffected controls. Imputation was performed using genotype data from our genome-wide association study and this replication study. Results: Imputed meta-analysis revealed that 13 SLC6A20 SNPs (minimum P = 0.0002 at rs6770261) were significantly associated with HSCR even after correction for multiple comparisons using false discovery rate (FDR) (minimum PFDR = .005). In further subgroup analysis, SLC6A20 polymorphisms appeared to have increased associations with L-HSCR. Moreover, haplotype analysis also showed significant associations between 2 haplotypes (BL3_ht2 and BL4_ht2) and HSCR susceptibility (PFDR < .05). Conclusions: Although further replications and functional evaluations are required, our results suggest that SLC6A20 may have roles in HSCR development and in the extent of aganglionic segment during enteric nervous system development.
Full Text
https://journals.lww.com/jpgn/Fulltext/2016/01000/Association_Analysis_of_SLC6A20_Polymorphisms_With.14.aspx
DOI
10.1097/MPG.0000000000000880
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Oh, Jung Tak(오정탁)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/179866
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