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Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico
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Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico
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Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico
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Journal Article
Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico
2024
Overview
Background LIPA, situated on chromosome 10q23.2‐q23.3, encodes the enzyme lysosomal acid lipase (LAL) (EC 3.1.1.13). Genetic alterations in LIPA lead to lysosomal acid lipase deficiency (LALD), an inborn error causing lipid metabolism anomalies and impairing cholesterol and triacylglyceride degradation. Over 40 LIPA variants have been documented, yet this study focuses on just two. The rs1051338 variant (NM_000235:c.46A>C) affects the signal peptide in Exon 2, whereas rs116928232, located in Exon 8, alters the splice site (NM_000235:c.894G>A), impacting lysosomal acid lipase activity. Considering the diverse clinical manifestations of LALD and the rising hepatic steatosis prevalence in Mexican population, mainly due to diet, these variants were investigated within this demographic to uncover potential contributing factors. This study aimed to reveal the frequency of rs1051338 and rs116928232 among healthy mestizo individuals in Northwest Mexico, marking a significant genetic exploration in this demographic. Methods Three hundred ten healthy mestizo individuals underwent PCR‐RFLP analysis for both variants, and Sanger sequencing was performed for variant rs116928232. Bioinformatic analysis was also performed to predict protein changes. Results Allele frequencies for rs1051338 (FA = 0.39, p value = 0.15) and rs116928232 (FA = 0.0016, p value = 0.49) aligned with reported data, while bioinformatic analysis allowed us to identify the protein alteration observed in both variants; finally, the variants showed no linkage between them (normalized D′ = 1.03, p value = 0.56). Conclusions Allelic frequencies closely matched reported data, and protein structure analysis confirmed variant impacts on LAL enzyme function. Notably, this study marks the first analysis of rs1051338 and rs116928232 in a healthy Mexican mestizo population. This study examines the frequency of two specific LIPA variants, rs1051338 and rs116928232, in 310 healthy Mexican mestizo individuals and the effects of these on protein structure by bioinformatic analysis. The results confirm the effects of this variants on LAL function and are consistent with existing data, underscoring the significance of this genetic investigation within this demographic.
