Interleukin (IL)-1 is markedly overexpressed in the brains of patients with Alzheimer's disease (AD). We aimed to evaluate the relationship between three polymorphisms of the IL1 gene (IL-1beta promoter -511T/C, IL-1beta exon 5 E1/E2 and IL-1-RA) and late onset AD in Taiwan Chinese. Forty-six late onset AD patients and 103 unrelated, age-matched, healthy controls living in the same area were included. PCR was used to resolve the two IL-1beta polymorphisms and the IL-1Ra intron 2 polymorphism. The -511T/T type of the IL-1beta promoter (unlike IL-1beta exon 5 and IL-1-RA) was more frequently found in AD than in healthy patients (-511C/C type versus T/T type, OR = 0.944, CI = 0.393, 2.269, P = 0.898; -511C/T type versus T/T type, OR = 0.375, CI = 0.156, 0.902, P = 0.028). The -511T/T genotype (unlike the other two polymorphisms) is a marker demonstrating that late onset AD in Chinese patients in Taiwan is genetically determined.
Background: Genetic susceptibility is associated with nasopharyngeal carcinoma (NPC). We previously identified rare variants potentially involved in familial NPC and common variants significantly associated with sporadic NPC. Methods: We conducted targeted gene sequencing of 20 genes [16 identified from the study of multiplex families, three identified from a pooled analysis of NPC genome-wide association study (GWAS), and one identified from both studies] among 819 NPC cases and 938 controls from two case-control studies in Taiwan (independent from previous studies). A targeted, multiplex PCR primer panel was designed using the custom Ion AmpliSeq Designer v4.2 targeting the regions of the selected genes. Gene-based and single-variant tests were conducted. Results: We found that NPC was associated with combined common and rare variants in CDKN2A/2B (P ¼ 1.3 Â 10 À4), BRD2 (P ¼ 1.6 Â 10 À3), TNFRSF19 (P ¼ 4.0 Â 10 À3), and CLPTM1L/TERT (P ¼ 5.4 Â 10 À3). Such associations were likely driven by common variants within these genes, based on gene-based analyses evaluating common variants and rare variants separately (e.g., for common variants of CDKN2A/ 2B, P ¼ 4.6 Â 10 À4 ; for rare variants, P ¼ 0.04). We also observed a suggestive association with rare variants in HNRNPU (P ¼ 3.8 Â 10 À3) for NPC risk. In addition, we validated four previously reported NPC risk-associated SNPs. Conclusions: Our findings confirm previously reported associated variants and suggest that some common variants in genes previously linked to familial NPC are associated with the development of sporadic NPC. Impact: NPC-associated genes, including CLPTM1L/TERT, BRD2, and HNRNPU, suggest a role for telomere length maintenance in NPC etiology.
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