Genetic association of GJA8 with long-segment Hirschsprung's disease in southern Chinese children.

ABSTRACT:

Background

Hirschsprung's disease (HSCR) is a complex congenital neurodevelopmental disorder affecting colons caused by both genetic and environmental factors. Although several genes have been identified as contributing factors in HSCR, the pathogenesis is still largely unclear, especially for the low prevalent long-segment HSCR (L-HSCR). Gap junction protein alpha 8 (GJA8) is involved in several physiological processes and has been implicated in several diseases. However, the relationship between GJA8 single nucleotide polymorphism (SNP) rs17160783 and HSCR in the southern Chinese population remains unknown. The study aimed to explore the association of genetic variants in GJA8 and HSCR susceptibility in southern Chinese.

Methods

SNP rs17160783 A>G in <

SUBMITTER: Ma Z 

PROVIDER: S-EPMC11384433 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature