Genetic etiology and clinical challenges of phenylketonuria.

This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. The prevalence of PKU varies widely among ethnicities and geographic regions, affecting approximately 1 in 24,000 individuals worldwide.

Variations in and Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community.

Background: The antigen processing 1 () and proteasome 20S subunit beta 9 () genes are associated with strong susceptibility to many autoimmune diseases. Here, we explored whether genetic variants, individually or combined, affected susceptibility to the complex, autoimmune-based skin disorder vitiligo.

Methods: Samples of genomic DNA from buccal cells of 172 patients with vitiligo and 129 healthy controls were analyzed using genotyping assays for the rs1135216 (A>G) and rs17587 (A>G) single nucleotide polymorphisms (SNPs).

Risk of Colorectal Carcinoma May Predispose to the Genetic Variants of the , and Genes Among Nonsmokers in the Saudi Community.

Purpose: Colorectal carcinoma (CRC) represents a considerable public health burden in Saudi Arabia. Several candidate genes and genetic variants have been associated with morbidity and mortality among patients with CRC. We explored whether allelic variants of the (rs4646903 and rs1048943), and (rs1042522) genes predisposed nonsmoking Saudi individuals to increased risk for CRC.