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Genetic Case-Control Study for Eight Polymorphisms Associated with Rheumatoid Arthritis.

Saad MN, Mabrouk MS, Eldeib AM, Shaker OG - PLoS ONE (2015)

Bottom Line: TGFβ1 and MTHFR A1298C were associated with RA using the dominant and the co-dominant models.There were no significant differences for FokI and the presence of RA disease by the used models examination.For LD results, There was a high D' value between BsmI and FokI (D' = 0.91), but the r(2) value between them was poor.

View Article: PubMed Central - PubMed

Affiliation: Biomedical Engineering Department, Minia University, Minia, Egypt.

ABSTRACT
Rheumatoid arthritis (RA) is an autoimmune disease which has a significant socio-economic impact. The aim of the current study was to investigate eight candidate RA susceptibility loci to identify the associated variants in Egyptian population. Eight single nucleotide polymorphisms (SNPs) (MTHFR-C677T and A1298C, TGFβ1 T869C, TNFB A252G, and VDR-ApaI, BsmI, FokI, and TaqI) were tested by genotyping patients with RA (n = 105) and unrelated controls (n = 80). Associations were tested using multiplicative, dominant, recessive, and co-dominant models. Also, the linkage disequilibrium (LD) between the VDR SNPs was measured to detect any indirect association. By comparing RA patients with controls (TNFB, BsmI, and TaqI), SNPs were associated with RA using all models. MTHFR C677T was associated with RA using all models except the recessive model. TGFβ1 and MTHFR A1298C were associated with RA using the dominant and the co-dominant models. The recessive model represented the association for ApaI variant. There were no significant differences for FokI and the presence of RA disease by the used models examination. For LD results, There was a high D' value between BsmI and FokI (D' = 0.91), but the r(2) value between them was poor. All the studied SNPs may contribute to the susceptibility of RA disease in Egyptian population except for FokI SNP.

No MeSH data available.


Related in: MedlinePlus

Genotype Distributions in RA Patients and Controls.For the eight SNPs, the genotype frequencies were illustrated as bar charts for cases and controls.
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pone.0131960.g003: Genotype Distributions in RA Patients and Controls.For the eight SNPs, the genotype frequencies were illustrated as bar charts for cases and controls.

Mentions: Genotype frequencies for each polymorphism for patients and controls were presented in Fig 3. From Table 3 and Fig 3, the genotypes/alleles that increases or decreases the susceptibility for RA could be addressed. Carriers of MTHFR C677T (CC) genotype had a decreased risk of RA. The (CT) genotype and (T) allele of the C677T variant was significantly associated with increased risk of RA. Patients bearing MTHFR A1298C (AA) genotype showed a trend to have an increased risk for RA. The (AC) genotype of the A1298C had a protective role against RA. Carriers of TGFβ1 (TC) genotype had an increased risk of RA. The OR under the dominant model provided an evidence of association for TGFβ1 with RA showing protective role for the (CC) genotype. Carriers of TNFB (AA) genotype and (A) allele had an increased risk of RA whereas individuals harboring the TNFB (AG) and (GG) genotypes were refractory to the disease. The (TT) genotype of the ApaI variant was significantly associated with increased risk of RA. The (GG) genotype of the BsmI predisposed its carrier to RA while the (AA) genotype and (A) allele of the BsmI had a protective role against RA. The (TT) genotype and (T) allele of the TaqI biomarker showed statistical influence in RA patients whereas the (CC) genotype of the TaqI seemed to be protective to RA. There was no direct association between FokI polymorphism and RA due to the comparable frequencies between cases and controls.


Genetic Case-Control Study for Eight Polymorphisms Associated with Rheumatoid Arthritis.

Saad MN, Mabrouk MS, Eldeib AM, Shaker OG - PLoS ONE (2015)

Genotype Distributions in RA Patients and Controls.For the eight SNPs, the genotype frequencies were illustrated as bar charts for cases and controls.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4492599&req=5

pone.0131960.g003: Genotype Distributions in RA Patients and Controls.For the eight SNPs, the genotype frequencies were illustrated as bar charts for cases and controls.
Mentions: Genotype frequencies for each polymorphism for patients and controls were presented in Fig 3. From Table 3 and Fig 3, the genotypes/alleles that increases or decreases the susceptibility for RA could be addressed. Carriers of MTHFR C677T (CC) genotype had a decreased risk of RA. The (CT) genotype and (T) allele of the C677T variant was significantly associated with increased risk of RA. Patients bearing MTHFR A1298C (AA) genotype showed a trend to have an increased risk for RA. The (AC) genotype of the A1298C had a protective role against RA. Carriers of TGFβ1 (TC) genotype had an increased risk of RA. The OR under the dominant model provided an evidence of association for TGFβ1 with RA showing protective role for the (CC) genotype. Carriers of TNFB (AA) genotype and (A) allele had an increased risk of RA whereas individuals harboring the TNFB (AG) and (GG) genotypes were refractory to the disease. The (TT) genotype of the ApaI variant was significantly associated with increased risk of RA. The (GG) genotype of the BsmI predisposed its carrier to RA while the (AA) genotype and (A) allele of the BsmI had a protective role against RA. The (TT) genotype and (T) allele of the TaqI biomarker showed statistical influence in RA patients whereas the (CC) genotype of the TaqI seemed to be protective to RA. There was no direct association between FokI polymorphism and RA due to the comparable frequencies between cases and controls.

Bottom Line: TGFβ1 and MTHFR A1298C were associated with RA using the dominant and the co-dominant models.There were no significant differences for FokI and the presence of RA disease by the used models examination.For LD results, There was a high D' value between BsmI and FokI (D' = 0.91), but the r(2) value between them was poor.

View Article: PubMed Central - PubMed

Affiliation: Biomedical Engineering Department, Minia University, Minia, Egypt.

ABSTRACT
Rheumatoid arthritis (RA) is an autoimmune disease which has a significant socio-economic impact. The aim of the current study was to investigate eight candidate RA susceptibility loci to identify the associated variants in Egyptian population. Eight single nucleotide polymorphisms (SNPs) (MTHFR-C677T and A1298C, TGFβ1 T869C, TNFB A252G, and VDR-ApaI, BsmI, FokI, and TaqI) were tested by genotyping patients with RA (n = 105) and unrelated controls (n = 80). Associations were tested using multiplicative, dominant, recessive, and co-dominant models. Also, the linkage disequilibrium (LD) between the VDR SNPs was measured to detect any indirect association. By comparing RA patients with controls (TNFB, BsmI, and TaqI), SNPs were associated with RA using all models. MTHFR C677T was associated with RA using all models except the recessive model. TGFβ1 and MTHFR A1298C were associated with RA using the dominant and the co-dominant models. The recessive model represented the association for ApaI variant. There were no significant differences for FokI and the presence of RA disease by the used models examination. For LD results, There was a high D' value between BsmI and FokI (D' = 0.91), but the r(2) value between them was poor. All the studied SNPs may contribute to the susceptibility of RA disease in Egyptian population except for FokI SNP.

No MeSH data available.


Related in: MedlinePlus