Allele In Patient Group Research Articles

Investigation of the association between (CCTTT)n polymorphism in NOS2 gene and serum IgE level in patients with vernal keratoconjunctivitis in Chaharmahal va Bakhtiari Province

IntroductionVernal keratoconjunctivitis (VKC) disease is an immune response of the body caused by environmental antigens leading to the inflammation of the conjunctive tissue. Many factors have been regarded as potential contributing factors in VKC development. NOS2 gene is one of the genetics factors that can be supposed as a potential contributor in the disorder development.In this research, the association between (CCTTT)n polymorphism in NOS2 gene promoter was investigated to find the presumable emolument. In the Iranian populations have not any reported the association of polymorphism CCTTT (n) with the promoter of the NOS2 gene. Methods and materialsThe study included 200 individuals (100 patients with VKC and 98 controls). After DNA extraction, PCR was performed following a standard phenol chloroform protocol, and then Genotypes were identified using polyacrylamide gel electrophoresis (PAGE). Serum IgE levels were estimated using Elisa Kit. Interpretation of findings was accomplished using SPSS software after analyzing the quality and quantity criteria associated with the signs and symptoms of the disease. Results(CCTTT)n polymorphism allele analysis in our study showed 10 alleles in patient group and 11 alleles in control group. The difference of allele (CCTTT) frequency between the patient and control groups was significant (P-value < 0.001). Serum IgE levels in both groups did not show statistically significant differences (P-value = 23%). ConclusionIn this study, we verified the association of (CCTTT)12 and VKC disease. Therefore, the concerned nucleotide change can be employed as an informative tool in determining the disease prognosis and detection of carriers, identification tests and elucidating the mechanism by which VKC develops.

Is GDF5 gene promoter polymorphism +104T/C associated with osteoarthritis in the Eastern of Turkey population?

Osteoarthritis (OA) is the most common form of arthritis. Genetic factors have been shown to play important roles in the etiology of OA. The gene growth differentiation factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in human and mice. A functional single nucleotide polymorphism (SNP) +104T/C in the 5'-UTR of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility in Han Chinese and Japanese populations. Our objective was to assess whether this SNP was also associated with OA in the Eastern Turkey population.A total of 172 cases including 95 patients with idiopathic OA and 77 control cases were recruited into the study. DNA samples were extracted from peripheral blood lymphocytes of all cases by using salting out method. The +104T/C polymorphism was genotyped by PCR-RFLP method. In terms of genotype comparison there wasn't any correlation between patient and control groups. Frequency of C allele was found to be higher in-patient group than control group and statistical analysis showed a poor correlation in allele frequencies of the +104T/C SNP of GDF5 gene between cases and controls (p&lt;0.05). Significant correlation between GDF5 and OA has been reported in Asian population, especially T alleles were found in higher frequencies and related to OA. Our study did not confirm this association and also in term of T allele. Interestingly, we found higher frequency of C allele in patient group than control group and our results are compatible with the study carried out in Greek population.

Association ofTNF-857C&gt;T,TNFRSF1A36A&gt;G, andTNFRSF1B676T&gt;GPolymorphisms with Ischemic Stroke in a Greek Population

Background. The role of genetic factors in the predisposition to develop ischemic stroke has been assessed by previous studies. The main goal of the current study was to determine any possible role of TNF-857C>T,TNFRSF1A36A>G, and TNFRSF1B676T>G polymorphisms in risk for stroke. Materials and Methods. One hundred seventy-three patients with first ever ischemic stroke of solely atherosclerotic etiology in Northwest Greece and a control group of 179 healthy unrelated subjects were evaluated. Results. TNFα-857TT, TNFR136AA, and TNFR2676TT genotypes were significantly increased in the patient group compared to controls (P = .008, OR = 2.47 (1.26–4.84), P = .005, OR = 1.97 (1.22–3.17), and P = .003, OR = 2.2 (1.43–3.37), resp.). In addition, the TNFR136A and the TNFR2676T alleles were found significantly increased in patients compared to controls (P = .009, OR = 1.48 (1.1–2) and P = .001, OR = 1.75 (1.25–2.46), resp.). Conclusion. The high incidence of these genotypes and alleles in patient group suggests that they are potentially predisposing factors for stroke in the Greek population studied. Large-scale multicenter controlled studies are needed to verify these polymorphisms effects on stroke susceptibility.

Association study between cystathione-beta-synthase gene polymorphism and schizophrenia

Objective To explore the relationship between cystathione-beta-synthase(CBS) gene T833C,G919A polymorphisms and schizophrenia. Methods The CBS gene polymorphism was detected by polymerase chain reaction and DNA sequencing technique in 93 patients with schizophrenia and 102 healthy people as normal control. Results ⑴ No CBS gene T833C ,G919A polymorphisms were found in all subjects,but mutation of G→A was detected at the 33th base in intron 8-9. Both heterozygote G/A and homozygote A/A were found in patient group,only heterozygote G/A was found in control group. ⑵ There was no significant difference of genotype distribution for mutation of G→A between patient group and control group(P>0.05). The frequency of A allele in patient group (8.07%)was higher than that in control group(3.43%) (χ2=3.92,P=0.048,OR=2.47,95%CI=1.01～6.05). ⑶ There was no significant difference of genotype distribution for mutation of G→A between clinic subgroups and control group(all P>0.05). The frequency of A allele in positive subgroup(8.70%) and later first-onset age subgroup(8.93%) were higher than that in control group(χ2=4.35,P=0.037,OR=2.68,95%CI=1.06～6.77; χ2=4.29,P=0.038,OR=2.76,95%CI=1.06～6.43). Conclusion The finding suggests that mutation of CBS gene T833C ,G919A is very low and it may be not correlated with schizophrenia. Mutation of G→A at the 33th base in intron 8-9 of CBS gene may be one of risk factors for schizophrenia with later first-onset age or positive symptom. Key words: Schizophrenia; Cystathione-beta-synthase; Genetics; Polymorphism