Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A recent genome-wide association study (GWAS) found significant association of six single nucleotide polymorphisms (SNPs) in the gene FLJ10986 with sporadic amyotrophic lateral sclerosis (SALS). Another independent GWAS reported significant association of one SNP in the gene inositol 1,4,5-triphosphate receptor 2 (ITPR2) with SALS. These studies provided conflicting results. We examined the six most significant SNPs in FLJ10986 and one SNP in ITPR2 in a large cohort consisting of 595 SALS cases and 681 controls ascertained from Germany. Our results did not provide evidence for the association of these SNPs with SALS, suggesting a possible population-specific effect for FLJ10986 and ITPR2 that do not modulate the risk for SALS in the German population.
 ...
PMID:No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. 1946 57

The objective of this study was to analyse clinical and genetic features of patients with sporadic ALS in south-west China. All patients diagnosed with adult-onset sporadic ALS were consecutively followed up, and their clinical characteristics were collected. The frequencies of alleles of six SNPs in the FLJ10986 gene and the association between these SNPs and the clinical features of ALS were analysed. One hundred and sixty-one patients were included in the study. The mean age of onset was 50.9+/-11.4 years. The mean diagnostic delay was 16.5+/-14.3 months and the mean disease duration was 30.7+/-23.5 months. Forty patients (24.2%) died during the period of follow-up. Positive correlation between mean delay and disease duration was found, as was negative correlation between onset age, mean delay and disease duration. The frequency of the 'G' variant of the SNP (rs10493256) was significantly higher than that in a control population. There was no significant difference in the frequencies of variant alleles regarding clinical features. In conclusion, SNP (rs10493256) in the FLJ10986 gene appears to increase the risk of developing sporadic ALS in our Chinese population. Our Clinical findings are in line with other studies. No association between the polymorphisms and clinical features was found.
 ...
PMID:Clinical and genetic features of patients with sporadic amyotrophic lateral sclerosis in south-west China. 1992 23

A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs. Considering the large number of hypotheses that are tested in GWAS, independent replication of associations is crucial for identifying true-positive genetic risk factors for disease. The primary aim of this study was to study the association between FGGY and sporadic ALS in large, homogeneous populations from northern Europe. Genotyping experiments were performed using Illumina Beadchips, Sequenom iPLEX assays and Taqman technology on large case-control series from The Netherlands, Belgium, Sweden and Ireland (total: 1883 sporadic ALS patients and 2063 controls). No significant association between sporadic ALS and the six previously reported associated SNPs in FGGY was observed: rs6700125 (p =0.56), rs6690993 (p =0.30), rs10493256 (p =0.68), rs6587852 (p =0.64), rs1470407 (p =0.28) and rs333662 (p =0.44). Screening of the additional candidate loci did not yield significant associations either, with the lowest p-value in joint analysis for rs7772593 (p =0.14). We concluded that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe.
 ...
PMID:Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis. 1992 38

Recently, 5 single nucleotide polymorphisms (SNPs), rs2306677 in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2), rs1541160 in the kinesin-association protein 3 gene (KIFAP3), rs6690993 and rs6700125 in the FLJ10986 gene, and rs10260404 in the dipeptidyl-peptidase 6 gene (DPP6) have been reported to be associated with the risk of developing sporadic amyotrophic lateral sclerosis (SALS) in Caucasian populations. However, this association is not consistent among different studies and yet to be tested in Chinese SALS patients. We examined the above SNPs in a large cohort consisting of 395 SALS patients and 288 controls from Southwest China. Our results suggest that these SNPs are unlikely to be a common cause of SALS in Chinese populations.
 ...
PMID:No association of five candidate genetic variants with amyotrophic lateral sclerosis in a Chinese population. 2279 86

The single-nucleotide polymorphisms (SNPs) rs6700125 and rs6690993 in FGGY (FLJ10986) were recently reported to be a susceptibility factor for sporadic amyotrophic lateral sclerosis (SALS) in Caucasian populations in genome-wide association studies. However, no such association was observed in other independent genome-wide association studies or replication studies in a European cohort or 2 small sample sizes of Chinese patients. We performed a large case-control study in a cohort consisting of 963 SALS cases and 1039 control subjects to examine the association between the 2 reported SNPs in FGGY and amyotrophic lateral sclerosisin Chinese patients. Our results did not find the SNP rs6690993 in FGGY is associated with Chinese SALS and cannot confirm that this FGGY SNP modulates the risk for SALS in the Chinese population.
...
PMID:Single-nucleotide polymorphism rs6690993 in FGGY is not associated with amyotrophic lateral sclerosisin a large Chinese cohort. 2443 56