FLG loss of function mutations R501X and R2447X in Puerto Rico: Association of genetic ancestry with Atopic Dermatitis and Ichthyosis Vulgaris

다국어 초록 (Multilingual Abstract)

In Puerto Rico, we do not have many studies of Loss of function (LoF) mutations but using the data from the 1000 Genome Project we identified several polymorphisms that predicted to eliminate protein function. In this research, we work with two single nucleotide polymorphisms that produce premature stop codons in the FLG gene. They are known as R501X and R2447X. Both are associated to skin conditions such as ichthyosis vulgaris and atopic dermatitis; they also have been associated to asthma and allergies. The 1000 Genome Project data is based on the analysis of 104 Puerto Ricans only, and we wanted to test if the frequencies in it were accurate for the Puerto Rican population. We genotyped 736 individuals for the mutation R501X and 292 for R2447X using real time PCR. From the 736 individuals, we found 21 heterozygotes for the SNP R501X, this mutation in the FLG gene having an allele frequency of 0.0142. This allele frequency compared to the one previously reported, shows a difference of 0.0114 suggesting that the mutation in Puerto Rico is not rare. This mutation has been identified mainly in 3 geographical regions of Puerto Rico with high European ancestry. We started working with the mutation R2447X and genotyped 292 individuals; and 3 heterozygotes were found. From this samples the mutation shows an allelic frequency of 0.005; and it appears to be localized in the east region of the island. Now, we expect to genotype the same individuals for both mutations and compare their distribution, prevalence and relation between both.
This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.