Abstract
Objective: To explore the association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with birth body mass and risk of autism in Chinese Han population.Methods: A total 1,505 Chinese Han autism patients were recruited, using the Diagnostic and Statistical Manual of Mental Disorders, 4th revised version (DSM-IV-R) diagnostic criteria for autism, and 1,308 sex-matched healthy controls were also enrolled for the study. All the participants' birth body masses were counted according to the medical records. The MTHFR C677T genotypes were detected using the polymerase chain reaction-restrict fragment length polymorphism (PCR-RFLP) method. The association between C677T polymorphism, birth body mass, and risk of autism were analyzed using the chi-square tests.Results: The present study found that the MTHFR 677T was significantly associated with risk of autism [P = 0.004, odds ratio (OR) = 1.18, 95% CI = 1.02–1.29). The autism children more frequently showed low birth body mass (<2.5 kg) than healthy control subjects (8.6 vs. 5.3%, P = 0.001, OR = 1.67, 95% CI = 1.24–2.26). The interactive effects between MTHFR 677T and low birth body mass (P = 0.0001, OR = 2.18, 95% CI = 1.44–3.32) were also significantly associated with risk of autism.Conclusions: The MTHFR C677T polymorphism and low birth body mass may be associated with risk of autism in Chinese Han population.
Highlights
Autism is a common neurodevelopmental disorder, which is clinically characterized by social communication and language communication disorders and repetitive and stereotyped interests and hobbies
The present study found that the methylenetetrahydrofolate reductase (MTHFR) 677T was significantly associated with risk of autism [P = 0.004, odds ratio (OR) = 1.18, 95% CI = 1.02–1.29)
The MTHFR C677T polymorphism and low birth body mass may be associated with risk of autism in Chinese Han population
Summary
Autism is a common neurodevelopmental disorder, which is clinically characterized by social communication and language communication disorders and repetitive and stereotyped interests and hobbies. Multiple genetic factors, environmental factors, and their interactions are believed to be involved in autism [1,2,3,4]. A large number of family and twin studies show that autism is highly inheritable, with heritability ranging from 60 to 90% [5,6,7,8]. In a large-scale cross-country cohort study of more than two million people carried out by Ban et al [9], 22,156 of them were diagnosed with autism, with heritability of ∼80% but without support for maternal effect and environmental impact, indicating that the changes in the occurrence rate of autism in this population were mainly attributed to genetic impact. New evidence show that environmental factors increase the risk of autism, such as prenatal estrogen, maternal body mass index (BMI), perinatal complications, birth season, birth body mass, and other environmental risk factors, as well as the interaction between heredity and environment, which are related to the risk of autism [10,11,12,13,14,15,16]
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