rs1160549 (NRXN3-DIO2): Gene Variant Research

Key takeaways

• Direct study evidence for rs1160549 in the NRXN3 - DIO2 region is not present in the available research data.
• A study of 354 Saudi Arabian children found elevated homozygosity negatively associated with cognitive ability scores.
• The GRIA4 gene region, not NRXN3 or DIO2, was the genome-wide significant finding in the available study.
• Large cognitive GWAS meta-analyses have used samples exceeding 300,000 participants, but these rarely include consanguineous populations.

What the research says One genome-wide association and homozygosity mapping study in a consanguineous Saudi Arabian child population (n=354) found that among participants with elevated homozygosity, homozygosity burden was negatively associated with cognitive ability estimates derived through latent variable modeling. Prior large-scale meta-analyses cited in this study have implicated up to 148 loci for cognitive ability, with derived polygenic scores predicting up to 4.31% of variance in cognitive ability across samples in the hundreds of thousands. The available study identifies GRIA4 as its genome-wide significant locus and does not report association data for rs1160549 or the NRXN3 - DIO2 locus.

Reported associations

• Cognitive ability: In 354 children from a consanguineous Saudi Arabian population, elevated runs of homozygosity (long stretches of identical DNA inherited from both parents, reflecting parental relatedness) were negatively associated with cognitive ability scores from latent variable modeling; the GRIA4 region was the genome-wide significant finding, and the NRXN3 - DIO2 region was not specifically reported.

Evidence quality The single provided study is a small, population-specific GWAS and homozygosity mapping study (n=354) in consanguineous Saudi Arabian children, a population underrepresented in mainstream large-scale cognitive genetics research. No PMID was listed in the study metadata, so standard inline citation links cannot be provided for this source. Most importantly, the study does not directly examine rs1160549 or this genomic region, meaning no direct evidence quality assessment for this variant is possible from the available data. The study's primary result was the GRIA4 locus surviving multiple testing corrections; findings from this small, population-specific cohort may not generalize to other populations or to broader assessments of this locus.

Lifestyle considerations No lifestyle considerations on file for this variant.