Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease

2002 ◽  
Vol 190 (1) ◽  
pp. 9-25 ◽  
Author(s):  
Ross Lazarus ◽  
Donata Vercelli ◽  
Lyle J. Palmer ◽  
Walt J. Klimecki ◽  
Edwin K. Silverman ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Single Nucleotide Polymorphisms ◽  
Human Disease ◽  
Potential Role ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Complex Human Disease ◽  
Immunity Genes

scholarly journals NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

2010 ◽  
Vol 70 (4) ◽  
pp. 668-674 ◽  
Author(s):  
P Dieudé ◽  
M Guedj ◽  
J Wipff ◽  
B Ruiz ◽  
G Riemekasten ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Systemic Sclerosis ◽  
Potential Role ◽  
Additive Model ◽  
Nucleotide Polymorphisms ◽  
Fibrosing Alveolitis ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Caucasian Origin

BackgroundRecent evidence has highlighted a potential role of interleukin 1β (IL-1β) in systemic sclerosis (SSc). NLRP1 provides a scaffold for the assembly of the inflammasome that promotes the processing and maturation of pro-IL-1β. In addition, NLRP1 variants were found to confer susceptibility to autoimmune disorders.ObjectiveTo study a possible association of the NLRP1 rs6502867, rs2670660 and rs8182352, rs12150220 and rs4790797 with SSc in the European Caucasian population.MethodsNLRP1 single nucleotide polymorphisms were genotyped in 3227 individuals comprising a discovery set (870 SSc patients and 962 controls) and a replication set including individuals from Germany (532 SSc patients and 324 controls) and Italy (527 SSc patients and 301 controls), all individuals being of European Caucasian origin.ResultsConditional analyses revealed a significant association for the NLRP1 rs8182352 variant with both anti-topoisomerase-positive and SSc-related fibrosing alveolitis (FA) subsets under an additive model: p=0.0042, OR 1.23 (95% CI 1.07 to 1.41) and p=0.0065 OR 1.19 (95% CI 1.05 to 1.36), respectively. Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.ConclusionsOur results establish NLRP1 as a new genetic susceptibility factor for SSc-related pulmonary fibrosis and anti-topoisomerase-positive SSc phenotypes. This provides new insights into the pathogenesis of SSc, underlining the potential role of innate immunity in particular in the FA-positive SSc subphenotype, which represents a severe subset of the disease.

scholarly journals A Potential Role for Human UDP-Glucuronosyltransferase 1A4 Promoter Single Nucleotide Polymorphisms in the Pharmacogenomics of Tamoxifen and Its Derivatives

2014 ◽  
Vol 42 (9) ◽  
pp. 1392-1400 ◽  
Author(s):  
Aleksandra K. Greer ◽  
Centdrika R. Dates ◽  
Athena Starlard-Davenport ◽  
Vineetha K. Edavana ◽  
Stacie M. Bratton ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Potential Role ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Udp Glucuronosyltransferase

Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes

1999 ◽  
Vol 77 (11) ◽  
pp. 754-760 ◽  
Author(s):  
Shamil Sunyaev ◽  
Jens Hanke ◽  
Atakan Aydin ◽  
Ute Wirkner ◽  
Inga Zastrow ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Human Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Disease Associated Genes

scholarly journals Detection of single nucleotide polymorphisms at major prolificacy genes in the Mehraban sheep and association with litter size

2018 ◽  
Vol 18 (3) ◽  
pp. 685-698 ◽  
Author(s):  
Reza Talebi ◽  
Ahmad Ahmadi ◽  
Fazlollah Afraz ◽  
Julien Sarry ◽  
Florent Woloszyn ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Litter Size ◽  
Potential Role ◽  
Chromosome 6 ◽  
The Novel ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
Gdf9 Gene

Abstract The present study aimed to investigate the presence of polymorphisms at four known genes controlling ovine prolificacy i.e. BMP15, GDF9, BMPR1B and B4GALNT2 in a sample of 115 Iranian Mehraban ewes and their association with litter size (LS) and lambs’ birth weight (BW) traits. Using Sanger sequencing of exons and polymorphism specific genotyping, ten SNPs (Single Nucleotide Polymorphisms) were observed in only two genes, GDF9 and BMPR1B. Seven SNPs were found in the GDF9 gene on the chromosome 5. Among them, six were already described in the coding sequence, and a new one (g.41840985C>T) was found in the 3’UTR. In the BMPR1B gene on the chromosome 6, three novel SNPs were detected in the exon 7 (g.29382184G>A; g.29382337G>A and g.29382340G>A). Allelic frequencies were established for six SNPs among the ten identified and they were in Hardy-Weinberg equilibrium. A significant association was found between the novel SNPs found in the exon 7 of BMPR1B and LS. Present results indicate the potential role of the BMPR1B locus in controlling prolificacy of Mehraban sheep and provide genetic markers for further exploitation in selection to improve reproductive efficiency.

An Analysis of the Association between Epilepsy-Related Genes and Vertigo in the Polish Population

2018 ◽  
Vol 23 (3) ◽  
pp. 135-144
Author(s):  
Katarzyna Pawlak-Osińska ◽  
Katarzyna Linkowska ◽  
Karolina Hołub ◽  
Katarzyna Winiarska ◽  
Bartosz Stankiewicz ◽  
...  
Keyword(s):  
Gene Regulation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Background ◽  
Potential Role ◽  
Control Group ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Chromosome 11 ◽  
Single Nucleotide

Considering the possibility of a common genetic background of vertigo and epilepsy, we genotyped an affected group of individuals with vertigo and an unaffected group, by studying 26 single-nucleotide polymorphisms (SNPs) in 14 genes which were previously reported to be of particular importance for epilepsy. Significant differences were found between the patients and the control group (χ2 = 38.3, df = 3, p = 1.6 × 10–7) for the frequencies of haplotypes consist ing of 2 SNPs located in chromosome 11 (rs1939012 and rs1783901 within genes MMP8 and SCN3B, respectively). The haplotype rs1939012:C-rs1783901:A, consisting of the minor-frequency alleles was found to be associated with a higher risk of vertigo (OR = 5.0143, 95% CI = 1.6991–14.7980, p = 0.0035). In contrast, the haplotype rs1939012:T-rs1783901:A showed a significant association with a decreased risk of the disease (OR = 0.0597, 95% CI = 0.0136–0.2620, p = 0.0002). Our results suggest that the SNPs rs1939012 and rs1783901 may play a potential role of gene regulation and/or epistasis in a complex etiology of vertigo.

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