Ramírez Aponte, Edwin Gilberto

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    Filaggrin loss of function mutations in the Puerto Rican population and their prevalence in patients with ichthyosis vulgaris, atopic dermatitis, asthma, and allergies
    (2024-05-02) Ramírez Aponte, Edwin Gilberto; Martínez Cruzado, Juan C.; College of Arts and Sciences - Sciences; Acevedo Suárez, Carlos A.; Isaza Brando, Clara E.; Department of Biology; George, Dibin Mary
    FLG mutations R501X, R2447X and 2282del4 have been associated with European populations, and in admixed populations with European ancestry. All of them were identified in Puerto Rico in the 1000 Genomes Project, along with Q3818X, of African ancestry. Population genetic data for these mutations outside of the 1000 Genomes Project was unknown for the island and this study aimed to establish their allele frequencies in the general population and affected population. TaqMan genotyping using rtPCR was employed and 1440 samples from 70 municipalities were genotyped. Results showed higher allele frequency only for R501X when compared to the frequencies of the 1000 Genomes Project, suggesting broader prevalence, and supported by a significant p-value less than 0.05. DNA samples from Puerto Rican patients with atopic dermatitis (AD), ichthyosis vulgaris (IV), child-onset asthma (COA), adult-onset asthma (AOA) and related allergies (RA) were collected. Results showed that for each condition, patients with any of the four filaggrin mutations ranged from 16.67% to 58.49% (except diagnosed IV patients, 100%). Geographic FLG mutations distributions were mapped, and patterns with Puerto Rico's genomics ancestry were observed for European origin FLG mutations. R501X showed significant association with diagnosed IV and RA. The mutation 2282del4 was significantly common among COA and RA patients, while R2447X showed significant values in AD, undiagnosed IV and RA patients. Mutation Q3818X varied across groups but was significantly prevalent in AD (diagnosed and undiagnosed) and RA patients. As expected, no FLG mutation in this study was significantly associated with AOA. Spearman’s correlations showed moderate association of pineapple allergy to R501X; as well, pepper allergy with R2447X in Puerto Rican patients. These insights emphasize the contribution of FLG mutations to the prevalence of dermatological and allergic conditions in Puerto Rico and underscore the value of genetic research in admixed populations.