Single nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service

Fareed, Mohd; Afzal, Mohammad

doi:10.1016/j.ejmhg.2012.08.001

Cited by 65 publications

(44 citation statements)

References 119 publications

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“…The minor allele frequencies of the TLR gene found in healthy controls in the present study were similar to previous studies performed in Turkish populations, but the prevalence rates were different from the ones reported in different regions of the world (36,37,39,40). Those discrepancies may be due to sample size, ethnic background, or geographic region, and they may affect the results of the genetic association studies (41).…”

Section: Discussionsupporting

confidence: 71%

The common genetic variants of toll-like receptor and susceptibilityto adenoid hypertrophy: a hospital-based cohort study

Babademez¹,

Özdaş²,

Özdaş³

2016

Turk J Med Sci

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Background/aim: Adenoid hypertrophy (AH) is one of the most frequent pediatric disorders. The aim of this study was to investigate the effects of TLR2-R753Q, TLR4-T399I, and TLR4-D299G polymorphisms in children with AH. Materials and methods:The variants of the TLR gene were determined by restriction fragment length polymorphism (PCR-RFLP) analysis in 60 patients with AH and in 50 healthy children. Data were analyzed with SNPStats and multifactor dimensionality reduction (MDR) software. Results:We found that the presence of the G allele, the AG+GG and AG genotypes at TLR4-D299G, and the GGT haplotype were associated with AH in children (P = 0.013, P = 0.02, P = 0.038, and P = 0.001, respectively). On the contrary, no association was found between TLR2-R753Q and predisposition to AH. The CT genotype at TLR4-T399I showed a sex-specific association with AH, occurring only in boys with allergies (P = 0.0048). In addition, MDR analysis indicated a strong synergy between TLR gene markers contributing to AH. Allergic children with the diplotypes that included minor alleles of TLR4-D299G or TLR4-T399I had about a 4-fold increased risk for AH. Conclusion:Common genetic variants of the gene encoding the TLR4 protein may have differential effects on AH and the presence of sex-specific allergy.

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Section: Discussionsupporting

confidence: 71%

The common genetic variants of toll-like receptor and susceptibilityto adenoid hypertrophy: a hospital-based cohort study

Babademez¹,

Özdaş²,

Özdaş³

2016

Turk J Med Sci

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“…Among several types of genetic variations, single-nucleotide polymorphisms (SNPs) are the most abundant throughout the genome [12]. SNPs have lately received much atention as they serve as markers of individual risk for adverse drug reactions or susceptibility to complex diseases [13].…”

Section: Efects Of Mutations Drug Intervention and Gene Expression Omentioning

confidence: 99%

Effects of Genetic Variations on Lipoprotein Metabolism in Cardiovascular Diseases

Chauke¹,

Magwebu²,

Seier³

2017

Advances in Lipoprotein Research

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Advances in molecular techniques have shown that genetic factors predispose individuals to cardiovascular diseases (CVD). These techniques have made it possible to identify disease-causing genes, prediction to disease susceptibility and responsiveness to drug interventions. For the purpose of this review, therapeutic intervention (niacin) was conducted in a nonhuman primate model to assess the impact of six coincident single nucleotide polymorphisms (cSNP) identiied in prioritised reverse cholesterol transport (RCT) and high-density lipoprotein (HDL) metabolism genes. Gene expression indings conirmed that these genetic variants may have a direct impact on the RCT pathway and drug intervention (niacin) response.

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“…It can help to answer the association of DNA variants with either the presence or absence of different phenotypes among individuals from the different population, such as: multivariance of the vertical mandibular pattern [8,9]. PITX2 gene is a bicoid-like homeobox transcription factor located in the 4q25 locus that is required for the early determination, development, and maintenance of extraocular muscles (EOM) compared to the limb skeletal muscle.…”

Section: Introductionmentioning

confidence: 99%

Exclusion ofpituitary homeobox 2gene polymorphism in vertical mandibular asymmetry patients: a preliminary study

Sofyanti

Boel

Soegiharto

et al. 2018

IOP Conf. Ser.: Earth Environ. Sci.

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Single nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service

Cited by 65 publications

References 119 publications

The common genetic variants of toll-like receptor and susceptibilityto adenoid hypertrophy: a hospital-based cohort study

The common genetic variants of toll-like receptor and susceptibilityto adenoid hypertrophy: a hospital-based cohort study

Effects of Genetic Variations on Lipoprotein Metabolism in Cardiovascular Diseases

Exclusion ofpituitary homeobox 2gene polymorphism in vertical mandibular asymmetry patients: a preliminary study

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