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Gene variants as risk factors for gastroschisis.

ABSTRACT: In a population-based case-control study in California of 228 infants, we investigated 75 genetic variants in 20 genes and risk of gastroschisis with regard to maternal age, race/ethnicity, vitamin use, and smoking exposure. We hypothesized that genes related to vascular compromise may interact with environmental factors to affect the risk of gastroschisis. Haplotypes were constructed for 75 gene variants using the HaploView program. Risk for gastroschisis associated with each gene variant was calculated for both the homozygotes and the heterozygotes, with the homozygous wildtypes as the referent. Risks were estimated as odds ratios (ORs) with 95% confidence intervals (CIs) by logistic regression. We found 11 gene variants with increased risk and four variants with decreased risk of gastroschisis for heterozygous (ORh ) or homozygous variants (ORv ) genotypes. These included NOS3 (rs1036145) ORh ?=?0.4 (95% CI: 0.2-0.7); NOS3 (rs10277237) ORv ?=?2.7 (95% CI: 1.3-6.0); ADD1 (rs12503220) ORh ?=?2.9 (95% CI: 1.6-5.4), GNB3 (rs5443) ORh ?=?0.2 (95% CI: 0.1-0.5), ORv ?=?0.4 (95% CI: 0.2-0.9); ICAM1 (rs281428) ORv ?=?6.9 (95% CI: 2.1-22.9), ICAM1 (rs3093030) ORv ?=?2.6 (95% CI: 1.2-5.6); ICAM4 (rs281438) ORv ?=?4.9 (95% CI: 1.4-16.6), ICAM5 (rs281417) ORh ?=?2.1 (95% CI: 1.1-4.1), ORv ?=?4.8 (95% CI: 1.7-13.6); ICAM5 (rs281440) ORh ?=?23.7 (95% CI: 5.5-102.5), ORv ?=?20.6 (95% CI: 3.4-124.3); ICAM5 (rs2075741) ORv ?=?2.2 (95% CI: 1.1-4.4); NAT1 ORv ?=?0.3 (95% CI: 0.1-0.9). There were additional associations between several gene variants and gastroschisis among women aged 20-24 and among mothers with and without vitamin use. NOS3, ADD1, ICAM1, ICAM4, and ICAM5 warrant further investigation in additional populations and with the interaction of additional environmental exposures. © 2016 Wiley Periodicals, Inc.

SUBMITTER: Padula AM

PROVIDER: S-EPMC5096035 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature

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Gene variants as risk factors for gastroschisis.

Padula Amy M AM Yang Wei W Schultz Kathleen K Tom Lauren L Lin Bin B Carmichael Suzan L SL Lammer Edward J EJ Shaw Gary M GM

American journal of medical genetics. Part A 20160912 11

In a population-based case-control study in California of 228 infants, we investigated 75 genetic variants in 20 genes and risk of gastroschisis with regard to maternal age, race/ethnicity, vitamin use, and smoking exposure. We hypothesized that genes related to vascular compromise may interact with environmental factors to affect the risk of gastroschisis. Haplotypes were constructed for 75 gene variants using the HaploView program. Risk for gastroschisis associated with each gene variant was c ...[more]

PMID: 27616475

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Project description:BackgroundPrevious studies showed increases in rates of gastroschisis in Canada in the first decade of the 21st century.ObjectiveWe sought to examine the epidemiologic characteristics of gastroschisis in Canada in recent years.MethodsWe conducted a retrospective population-based cohort study of all livebirths and stillbirths delivered in Canada (excluding Quebec) from 2006 to 2017, with information obtained from the Canadian Institute for Health Information. Gastroschisis rates by maternal age, region of residence, and maternal and infant characteristics were quantified using prevalence rate ratios (RR) and 95% confidence intervals (CI). Log-binomial regression was used to quantify the associations between risk factors and gastroschisis.ResultsThere were 1314 gastroschisis cases among 3 364 116 births. The prevalence rate was 3.7 per 10 000 total births in 2006 and 3.4 per 10 000 total births in 2017, with substantial annual variation in rates. The proportion of mothers aged 20-24 years decreased from 16.5% in 2006 to 11.3% in 2017, while the proportion of mothers aged <20 years halved from 4.8% to 2.3%. The prevalence of gastroschisis at birth remained unchanged among mothers aged <20, 20-24 and 30-49 years but increased among mothers aged 25-29 years. The age-adjusted prevalence rate of gastroschisis increased across the period (for 2016-2017 versus 2006-2007 rate ratio [RR] 1.28, 95% CI 1.05, 1.56), and there was substantial regional variation. Risk factors included problematic use of substances (RR 2.61, 95% CI 2.01, 3.39) and hypothyroidism (RR 2.76, 95% CI 1.56, 4.88). There was a North-to-South difference in gastroschisis prevalence (adjusted RR Far North compared with South 1.54, 95% CI 1.11, 2.15).ConclusionGastroschisis birth prevalence rates in Canada have stabilised in recent years compared with the increase documented previously. The substantial geographic variation and North-to-South difference in gastroschisis prevalence may indicate variation in socio-economic status, lifestyle and nutritional patterns.

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Gene variants as risk factors for gastroschisis.

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Gene variants as risk factors for gastroschisis.

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