在以墨西哥人群为基础的腹裂病例中评估家族因素：潜在遗传易感性的进一步证据。
Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility.
机构信息
Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario José Eleuterio González, Ave. Madero y Gonzalitos S/N Col. Mitras Centro, Monterrey, Nuevo León CP 64460, Mexico.; Instituto de Servicios de Salud Pública en el Estado de Baja California, Departamento de Genética, Hospital General Tijuana, Av Centenario 10851, Zona Rio, Tijuana, Baja California CP 22320, Mexico..
Instituto de Servicios de Salud Pública en el Estado de Baja California, Departamento de Genética, Hospital General Tijuana, Av Centenario 10851, Zona Rio, Tijuana, Baja California CP 22320, Mexico.; Instituto Tecnológico de Tijuana, Departamento de Sistemas y Computación, Calzada del Tecnológico S/N Fracc. Tomas Aquino, Tijuana, Baja California CP 22414, Mexico..
出版信息
J Pediatr Surg. 2018 Mar;53(3):521-524. doi: 10.1016/j.jpedsurg.2017.08.021. Epub 2017 Sep 1.
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.
目的
在墨西哥基于人群的环境中评估归因于家族因素的腹裂发生情况。
方法
对 2010 年至 2016 年在蒂华纳总医院（墨西哥下加利福尼亚州）出生的腹裂病例进行描述性研究，以生成多代系谱。
结果
在 57217 例活产儿中，有 87 例腹裂病例。6 名先证者（6.9%）有另一名受影响的家庭成员。发现了 2 对半同胞、1 对同卵双胞胎、1 对母婴病例、1 个远房表亲、1 个远房叔叔。同胞复发率为 5.5%。在研究的 174 名男性和 153 名女性（n=327，涉及 180 个核心家庭）中，性别依赖性影响分析表明，男性（3.2%）比女性（1.8%）对腹裂的易感性增加，总体而言，在考虑先证者的情况下，调整后的发生率为 2.5%。
结论
我们的结果提供了归因于家族因素对腹裂的更大易感性。尽管主要是散发性发生，但潜在的遗传易感性和环境影响表明，基因和环境因素在腹裂中存在复杂的相互作用。
证据水平
IV 级。
Zotero 插件