Carrier frequency of autosomal recessive monogenic disorders in the peruvian population

Autosomal recessive diseases represent an important group of genetic disorders whose frequency may be reduced through population screening strategies or premarital diagnosis, particularly in low- and middle-income countries, where some of these conditions have personalized treatment options that are often not covered by healthcare systems. The aim of this study was to determine the frequency of carriers of autosomal recessive monogenic disorders among patients who underwent exome sequencing at a national pediatric referral hospital in Peru.

An observational study was conducted in which carrier frequency was calculated based on pathogenic or likely pathogenic variants identified through exome sequencing. Additionally, assumptions from the Hardy-Weinberg equilibrium were applied to estimate the expected frequency of affected individuals in the population. Exploratory analyses were performed to estimate the odds ratio to evaluate the possible association between the geographic origin of patients or their grandparents and the presence of recessive variants.

The sample included 178 patients who underwent exome sequencing. In the analyzed cohort, approximately one pathogenic or likely pathogenic heterozygous variant per individual was identified, and at least 63.5% of participants were carriers of at least one genetic condition.

Carrier frequencies for genes such as GJB2, PAH, and ABCA4 were slightly lower than those previously reported. Similarly, the estimated prevalence of potentially affected individuals showed variations compared with previous studies across different disease groups. These differences may be explained by demographic and evolutionary factors that influence population genetic structure.