SLC11A1 gene polymorphisms in Korean patients with Behçet's disease

Abstract

The allele 3 and the genotype allele 3/allele 3 of the 5'-promoter (GT)n in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. Further studies in other populations are required to confirm our results.

SLC11A1 Polymorphisms Are Associated with the Risk of Chronic Obstructive Pulmonary Disease in a Korean Population

“…In addition to the D543 N variant, the * 55_58delTGTG polymorphism may be functional because such a deletion may interfere with any of the several regulatory elements found in the 3 0 -UTR of the SLC11A1 gene (Ouchi et al 2003). In the present study, the variant allele frequencies of these two polymorphisms (0.11 for both) were similar to the results (0.04-0.18) of previous Korean and Japanese studies (Liu et al 1995;Yang et al 2000;Ouchi et al 2003;Kim et al 2006), but higher than that (0.01) reported in Caucasian populations (Table 1) (Liu et al 1995). In addition, these two polymorphisms were in complete LD (|D 0 | = 1.00 and c 2 = 1.00), which is consistent with the findings of previous Japanese and Korean studies (Yang et al 2000;Shirakawa and Kishi 2000;Ouchi et al 2003;Kim et al 2006).…”

“…The SLC11A1 polymorphisms have been previously found to be associated with various inflammatory and infectious diseases (Greenwood et al 2000;Yang et al 2000;Ouchi et al 2003;Zaahl et al 2006;Kim et al 2006). In the present study, only healthy volunteers confirmed to be disease-free by a regular health check-up were included in the control group.…”

“…First, the discrepancies may be the result of the differing ethnicities of the study populations. The allelic and genotype frequencies of the SLC11A1 polymorphisms, as well as the status of LD between the polymorphisms, vary greatly in different ethnic groups (Liu et al 1995;Yang et al 2000;Ouchi et al 2003;Zaahl et al 2006;Kim et al 2006;RomeroGomez et al 2004). Therefore, the genetic effect of the SLC11A1 polymorphisms on the susceptibility to human disease may be different in different ethnic populations.…”

“…Several studies have investigated the association between polymorphisms in the SLC11A1 gene and the risk of various infectious and inflammatory diseases (Bellamy et al 1998;Searle and Blackwell 1999;Yang et al 2000;Ouchi et al 2003;Zaahl et al 2006;Kim et al 2006). Bellamy et al (1998) reported that allele 2 of the (GT) n repeat polymorphism and its linked IVS4 + 14C allele, as well as the 543 N allele and its linked * 55_58delTGTG allele, were associated with an increased risk for active tuberculosis in west Africans.…”

“…Several SLC11A1 gene polymorphisms have been reported Liu et al 1995;Greenwood et al 2000), and some of them, including a (GT) n repeat polymorphism in the promoter, D543 N polymorphism in exon 15 (rs17235409), and * 55_58delTGTG [the nucleotide 3 0 of the translation termination codon was denoted by * 1 (den Dunnen and Antonarakis 2001), rs17235416] polymorphism in the 3 0 -UTR, have been suggested to influence gene expression or function Searle and Blackwell 1999;Ouchi et al 2003). It has also been suggested that these variants are associated with susceptibility to a variety of infectious and inflammatory diseases in which macrophages play an important role in the development of the disease (Greenwood et al 2000;Yang et al 2000;Zaahl et al 2006;Kim et al 2006).…”