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LRRTM3 Genetic Variations, rs1925575, and rs1925608 Contributed to Autism Spectrum Disorder Trait Severity: An
Nilanjana Dutta1, Sharmistha Saha1, Mahasweta Chatterjee1
1Manovikas Biomedical Research and Diagnostic Centre, Manovikas Kendra, 482 Madudah, Plot I-24, Sector J, EM Bypass, Kolkata, West Bengal 700107, India.
International Journal of Molecular and Cellular Medicine
|July 15, 2024
Summary
Genetic variants in LRRTM3, specifically rs1925575 and rs1925608, are linked to Autism Spectrum Disorder (ASD) in Indian subjects. These variants influence ASD trait severity, particularly in females.
Area of Science:
- Neurogenetics
- Autism Spectrum Disorder Research
- Human Genetics
Background:
- Leucine-rich repeat (LRR) containing surface proteins are crucial for synapse formation.
- Aberrant LRR proteins are implicated in synaptic dysfunction, a hallmark of Autism Spectrum Disorder (ASD).
- LRR transmembrane 3 (LRRTM3) genetic variants have previously shown association with ASD in Caucasian populations.
Purpose of the Study:
- To investigate the association of two LRRTM3 genetic variants (rs1925575 and rs1925608) with ASD in an Indian cohort.
- To analyze the impact of these variants on ASD severity and specific behavioral traits.
- To explore potential gender-specific effects of LRRTM3 variants in ASD.
Main Methods:
- Genotyping of LRRTM3 variants rs1925575 and rs1925608 in 1048 Indian subjects (270 ASD probands, 428 parents, 350 controls).
- Polymerase chain reaction (PCR) amplification and restriction enzyme digestion for genotype analysis.
- Population-based and family-based association analyses, including assessment of ASD severity using the Childhood Autism Rating Scale2-standard test (CARS2-ST).
Main Results:
- Higher frequencies of rs1925608 and rs1925575 'CC' genotypes and the C-C haplotype were observed in ASD probands (P=0.001).
- Parental analysis indicated higher frequency of rs1925575 'T' in fathers (P=0.01) and biased paternal transmission of the 'C' allele (P=0.03).
- Specific genotypes correlated with increased 'Activity level' (rs1925608 'CC') and 'Relating to people' scores (rs1925575 'TC'), with a notable influence on female probands' traits.
Conclusions:
- This study provides the first evidence for the association of LRRTM3 genetic variants with ASD in an Indian population.
- LRRTM3 variants rs1925575 and rs1925608 influence specific ASD-related traits, including activity levels and social interaction.
- The findings suggest a potential role for LRRTM3 in ASD pathogenesis and highlight gender-specific influences on trait severity.
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