scholarly journals Lack of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population

2013 ◽  
Vol 1 (1) ◽  
pp. 25-29 ◽  
Author(s):  
Venkatesh Babu Gurramkonda ◽  
Jyotsna Murthy ◽  
Altaf Hussain Syed ◽  
Bhaskar VKS Lakkakula
Keyword(s):  
Cleft Lip ◽  
Indian Population ◽  
Gene Interaction ◽  
South Indian Population ◽  
Nucleotide Polymorphisms ◽  
Pairwise Linkage Disequilibrium ◽  
Oral Clefts ◽  
South Indian ◽  
Chi Squared ◽  
Hardy Weinberg Equilibrium

Objective: This present study is aimed to investigate the association between interferon regulatory factor 6 (IRF6), single nucleotide polymorphisms (SNPs), and nonsyndromic cleft lip without without cleft palate (NSCLP) in the South Indian population. Subject and Methods: For this study, 190 unrelated NSCLP patients and 189 controls without clefts were genotyped with rs2235371 (V2741) and rs642961 SNPs using PCR-RFLP. The associations between NSCLP groups and IRF6 gene polymorphisms, as well as haplotypes, were analyzed using chi-squared test and 95% confidence interval (95%CI) of the odds ratios were calculated with the control groups as reference. Results: For controls, the minor allele frequencies of both variants, V2741 and rs642961, were 7.1% and 21.1%, respectively. Genotype data for both variants in control and cleft groups follow the Hardy Weinberg Equilibrium. Between cases with NSCLP and controls, the two SNPs showed no differences in frequencies of the genotypes or alleles. The pairwise linkage disequilibrium (LD) values (D’=1 and r2=0.027) between V2741 and rs642961 revealed that these two SNPs are not in strong LD. Haplotype G-T showed a significantly reduced risk for oral clefts (p<0.001) and haplotype A-T increased the risk for oral clefts (p=0.043). Gene-gene interaction showed that the higher risk group contains more GG-CC combination of cases that the controls, but this model was not significantly associated with cleft status (p=0.136) Conclusion: In conclusion, while IRF6 is strongly associated in other populations, this study demonstrated that variants in IRF6 may play a role in NSCLP in a South Indian population, but other genes are expected to play a role in this population as well.

scholarly journals Errata for “Lack of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population,” Volume 1, No 1

2013 ◽  
Vol 1 (1) ◽  
pp. 30
Author(s):  
Sarah Vinski
Keyword(s):  
Indian Population ◽  
South Indian Population ◽  
Article Title ◽  
Oral Clefts ◽  
South Indian

This page reflects errors that were found in the article “Lack of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population," Volume 1, No 1 of Dentistry 3000. 1. Gurramkonda, Venkatesh, Jyotsna Murthy, Altaf Hussain Syed, & Bhaskar VKS Lakkakula. "Lack of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population." Dentistry 3000 [Online], 1.1 (2013): n. pag. Web. 3 Sep. 2013 The article title should be “Evidence of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population.” Last updated Wednesday, September 4, 2013

scholarly journals Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population

Meta Gene ◽  
2016 ◽  
Vol 9 ◽  
pp. 181-184
Author(s):  
Venkatesh Babu Gurramkonda ◽  
Altaf Hussain Syed ◽  
Jyotsna Murthy ◽  
Bhaskar V.K.S. Lakkakula
Keyword(s):  
Gene Polymorphism ◽  
Cleft Lip ◽  
Indian Population ◽  
South Indian Population ◽  
South Indian

Association of IRF6 (G820A) Gene Variant with Nonsyndromic Cleft Lip and Palate in South Indian Population

2014 ◽  
Vol 48 (4) ◽  
pp. 245-250
Author(s):  
Nidhi Rathore ◽  
RM Dharma ◽  
MR Dinesh ◽  
BC Amarnath ◽  
CS Prashanth ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Indian Population ◽  
Cleft Lip And Palate ◽  
South Indian Population ◽  
Gene Variant ◽  
South Indian

scholarly journals Comment: “Evaluation of the Association of Omentin 1 rs2274907 A>T and rs2274908 G>A Gene Polymorphisms with Coronary Artery Disease in Indian Population: A Case Control Study”

2020 ◽  
Vol 10 (4) ◽  
pp. 190
Author(s):  
Karani S. Vimaleswaran
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Indian Population ◽  
Data Interpretation ◽  
Minor Allele ◽  
South Indian Population ◽  
South Indian ◽  
Hardy Weinberg Equilibrium ◽  
Artery Disease ◽  
Dbsnp Database

The study by Jha et al. (2019) demonstrated an association of the single nucleotide polymorphism (SNP) rs2274907 A>T with coronary artery disease (CAD) in 100 CAD patients and 100 matched healthy controls from a South Indian population. There are serious concerns with regard to the interpretations of the study findings. The genotypes of the SNP are not in Hardy–Weinberg equilibrium (HWE) in both cases (p < 0.0001) and controls (p = 0.006), which is indicative of a technical error due to a problematic genotyping method. In addition, the genotype and allele frequencies reported in the study do not match with the frequencies listed in the SNP database for Asian Indians. While the study by Jha et al. reported ”T” allele as the minor allele, the dbSNP database reported ”A” as the minor allele. In summary, it can be concluded that the data presented in the study suffer from genotyping as well as data interpretation error and, hence, the findings should be considered by the reader with caution.

scholarly journals Association of A1538G and C2437T single nucleotide polymorphisms in heat shock protein-70 genes with diabetic nephropathy among South Indian population

2017 ◽  
Vol 37 (2) ◽  
Author(s):  
Umapathy Dhamodharan ◽  
Krishnamoorthy Ezhilarasi ◽  
Balashanmugam Ponjayanthi ◽  
Dornadula Sireesh ◽  
Kunka Mohanram Ramkumar ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Heat Shock ◽  
Indian Population ◽  
Clinical Symptoms ◽  
Control Group ◽  
South Indian Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
South Indian ◽  
Stage Renal Disease

Diabetic Nephropathy (DN) is the leading cause of end-stage renal disease, characterized by progressive albuminuria and conferring additional risk of cardiovascular disease (CVD) and mortality. The crucial role of heat-shock proteins (HSPs) on renal function in patients with DN has been well documented. The present study was aimed to understand the association of HSP-70 gene variants on the susceptibility of Type 2 Diabetes Mellitus (T2DM) and DN. A total of 946 subjects (549 Males; 397 Females) were recruited and divided into four groups according to the levels of urinary albumin excretion (UAE): those with normoalbuminuria (UAE <30 mg/24 h; n=230), those with microalbuminuria (30≤ UAE ≤300 mg/24 h; n=230), and those with macroalbuminuria (UAE> 300 mg/24 h; n=230). The control group randomly enrolled a consecutive population of 256 healthy subjects who had a routine medical check-up in our hospital. Those subjects had no history or clinical symptoms of diabetes. Subjects were genotyped for HSP70-2 (+1538 A/G; rs2763979) and HSP70-hom (+2437 C/T; rs2227956) by PCR-restriction fragment length polymorphism (RFLP). The ‘G’ allele of HSP70-2 (+1538 A/G) single nucleotide polymorphism (SNP) showed relative risk for normoalbuminuria, microalbuminuria and macroalbuminuria subjects whereas the ‘T’ allele of HSP70-hom (+2437 C/T) SNP showed significant protection against macroalbuminuria subjects. In conclusion, our results indicate that the HSP70-2 (+1538 A/G) and HSP70-hom (+2437 C/T) SNPs are highly associated with renal complications in T2DM among the South Indian population.

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