Literature DB >> 28935396

Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility.

Victor M Salinas-Torres1, Rafael A Salinas-Torres2, Ricardo M Cerda-Flores3, Laura E Martínez-de-Villarreal4.   

Abstract

PURPOSE: To evaluate the occurrence of gastroschisis attributable to familial factors in a Mexican population-based setting.
METHODS: A descriptive study was performed among gastroschisis cases born from 2010 through 2016 at Tijuana General Hospital (Baja California, Mexico) to generate multigenerational pedigrees.
RESULTS: There were 87 gastroschisis cases from 57,217 live births. Six probands (6.9%) had another affected family member. Two half-siblings, a set of monozygotic twins, a mother-and-daughter occurrence, a distant paternal cousin and a distant maternal uncle were identified. Sibling recurrence was 5.5%. From 174 males and 153 females studied (n=327, involving 180 nuclear families), sex-dependent influence analysis evidenced an increased susceptibility to gastroschisis in males (3.2%) compared to females (1.8%) with an overall of 2.5% adjusted for proband.
CONCLUSIONS: Our results provide a greater liability attributable to familial factors on gastroschisis. In spite of the predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in gastroschisis. LEVEL OF EVIDENCE: Level IV.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Familial; Gastroschisis; Genetics; Inheritance; Population-based; Recurrence

Mesh:

Year:  2017        PMID: 28935396     DOI: 10.1016/j.jpedsurg.2017.08.021

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN: 0022-3468            Impact factor:   2.545


  6 in total

Review 1.  A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis.

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Hugo L Gallardo-Blanco; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-08-09       Impact factor: 1.827

Review 2.  Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-03-17       Impact factor: 1.827

Review 3.  Familial occurrence of gastroschisis: a population-based overview on recurrence risk, sex-dependent influence, and geographical distribution.

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-01-15       Impact factor: 1.827

4.  Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall.

Authors:  Víctor M Salinas-Torres; Hugo L Gallardo-Blanco; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; José J Lugo-Trampe; Daniel Z Villarreal-Martínez; Laura E Martínez de Villarreal
Journal:  Int J Mol Sci       Date:  2019-05-09       Impact factor: 5.923

5.  Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis.

Authors:  Víctor M Salinas-Torres; Hugo L Gallardo-Blanco; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; José J Lugo-Trampe; Daniel Z Villarreal-Martínez; Marisol Ibarra-Ramírez; Laura E Martínez de Villarreal
Journal:  Mol Genet Genomic Med       Date:  2020-03-12       Impact factor: 2.183

Review 6.  Embryology of the Abdominal Wall and Associated Malformations-A Review.

Authors:  Elisabeth Pechriggl; Michael Blumer; R Shane Tubbs; Łukasz Olewnik; Marko Konschake; René Fortélny; Hannes Stofferin; Hanne Rose Honis; Sara Quinones; Eva Maranillo; José Sanudo
Journal:  Front Surg       Date:  2022-07-07
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.