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. 2025 May 4;8(5):e70801.
doi: 10.1002/hsr2.70801. eCollection 2025 May.

Unraveling the Genetic and Environmental Risk Factors of Autism Spectrum Disorder Through a Case-Control Study in Armenia

Meri Mkhitaryan  1 , Tamara Avetisyan  2   3 , Hermine Yeritsyan  2 , Hayk Harutyunyan  1 , Konstantin Yenkoyan  1
Affiliations

Unraveling the Genetic and Environmental Risk Factors of Autism Spectrum Disorder Through a Case-Control Study in Armenia

Meri Mkhitaryan et al. Health Sci Rep. .

Abstract

Background and aims: Autism spectrum disorder (ASD) is influenced by genetic and environmental factors. This study investigates genetic mutations and prenatal factors associated with ASD, including their interplay, in a multicenter case-control study.

Methods: The study included 297 participants (149 ASD cases, 148 controls). Genetic data were analyzed using Multiplex Ligation-dependent Probe Amplification (MLPA) for ASD-associated chromosomal regions. Environmental data covered prenatal, perinatal, and neonatal factors. Logistic regression and stratified analyses were performed.

Results: Significant associations were found between ASD and mutations in 15q11-15q13, 16p11, and 11q13 regions, particularly in SHANK2 and SHANK3. Females with ASD showed higher mutation rates than males. Prenatal factors (e.g., MgB6 use, labor-inducing drugs, maternal stress, pregnancy complications, shorter interpregnancy intervals) exacerbated ASD risk when combined with specific genetic variations. Duphaston use during pregnancy, alongside certain mutations, may influence ASD risk, potentially offering protective effects.

Conclusion: This study highlights the importance of integrating genetic and environmental factors in ASD research. Findings underscore the need for tailored early interventions, prenatal care advice, and genetic counseling for at-risk families. Future studies should validate these findings in larger, diverse populations and explore underlying mechanisms.

Keywords: autism spectrum disorder; case–control study; genetics; gene‐environment; pregnancy.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Distribution of statistically significant probes across the 15q11−15q13 chromosomal regions.
Figure 2
Figure 2
Distribution of statistically significant probes within the 16p11 chromosomal region.
Figure 3
Figure 3
Distribution of statistically significant probes within the 11q13 chromosomal region.
Figure 4
Figure 4
Distribution of statistically significant probes between case and control groups based on gender.
See this image and copyright information in PMC

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