Association study of rs1333040 and rs1004638 polymorphisms in the 9p21 locus with coronary artery disease in southwest of Iran

Background: Coronary artery disease [CAD] is a multifactorial and heterogenic disease. Recently, genome-wide association studies have reported that rs1333040 [C/T] and rs1004638 [A/T] single nucleotide polymorphisms [SNPs] in the 9p21 locus have very strong association with CAD. This study aimed to examine these associations in Southwest of Iran

Methods: Blood samples were collected from 200 CAD patients and 110 healthy individuals with no CAD. The association of two SNPs with CAD was evaluated by PCR and restriction fragment length polymorphism

Results: Chi-square test showed no association between rs1333040 SNP and CAD [X[2]: 4.66, df: 2, P=0.09]. Also, there was no association between rs1004638 SNP and CAD [X[2]: 0.27, df: 2, P=0.88]

Conclusion: No association was observed between rs1333040 and rs1004638 SNPs in the 9P21 region and CAD in Southwest of Iran

Association study between coronary artery disease and rs1333049 and RS10757274 polymorphisms at 9P21 locus in south-west Iran

Coronary artery disease [CAD] is a multi-factorial and heterogenic disease with atherosclerosis plaques formation in internal wall of coronary artery. Plaque formation results to limitation of the blood reaching to myocardium leading to appearance of some problems, such as ischemia, sudden thrombosis veins and myocardial infarction [MI]. Several environmental and genetic factors are involved in prevalence and incident of CAD as follows: hypertension, high low density lipoprotein-cholesterol [LDL-C], age, diabetes mellitus, family history of early-onset heart disease and smoking. According to genome wide association studies [GWAS], five polymorphisms in the 9p21 locus seem to be associated with the CAD. We aimed to evaluate the remarkable association of two polymorphisms at 9p21 locus, rs1333049 and rs10757274, with CAD. This experimental study was conducted in Golestan, Aria Hospitals and Genetics Lab of Shahid Chamran University in the city of Ahvaz, Iran, in 2010- 2011. The collected blood samples belonging to 170 CAD patients [case group] and 100 healthy individuals [control group] were analyzed by tetra-primer amplification refractory mutation system [ARMS]-polymerase chain reaction [PCR] technique. The results were analyzed using software package used for statistical analysis [SPSS; SPSS Inc., USA] version 16. A value of p<0.05 and an odd ratio [OR] with 95% confidence intervals [CI] were considered significant. The frequencies of CC, CG and GG genotypes for rs1333049 polymorphism in patients were 18.2, 65.3 and 16.5%, while in controls, the related values were 25, 67 and 8%, respectively. GG genotypes of rs1333049 polymorphism in CAD patients were more than control cases [OR: 0.354, 95%CI: 0.138-0.912, p=0.032]. The frequencies of AA, AG and GG genotypes for rs10757274 in CAD patients were 8.2, 58.3 and 33.5%, while in controls, the related values were 35, 63 and 2%, respectively. GG Genotype in rs10757274 polymorphism in CAD patients was found more than control cases [OR: 0.014, 95% CI: 0.003 -0.065, p=0.0001]. The rs1333049 polymorphism at 9p21 locus shows a weak association with CAD, whereas rs10757274 polymorphism reveals a significant association with CAD. These variants may help the identification of patients with increased risk for coronary artery disease

[ first survey of distribution of inherited deafness patterns in individuals referred to genetic center of Ahvaz welfare organization, Southern Iran]

Deafness is a heterogeneous disorder induced by genetic and environmental factors. It is the most common hereditary sensory-neural disorder that affects 1/1000 to 1/2000 of the newborns. More than 70% of hearing loss cases are caused by genetic disorders, 85% of which result from nonsyndromic autosomal recessive sensory-neural hearing loss. Up to now, more than 100 genes contributing in hearing loss have been determined. Alteration of these genes may result in hearing loss. This study was performed to identify the inheritance patterns of deafness and its relation with ethnicity, gender and consanguineous marriages. In this survey, data from 356 families affected by hearing loss and referred to welfare organization of Ahvaz during the time were collected based on sex, ethnic groups and relativeness. The results state a high frequency of autosomal recessive deafness caused by consanguineous marriages within Arab and non-Arab ethnic groups [p<0.05]. But no significant difference in gender. In conclusion, the high frequency of autosomal recessive deafness among the population with a high frequency of consanguineous marriages is considerable. The dominant pattern of deafness observed in this population was autosomal recessive