Are the genetic variants/haplotypes of the CDH1 gene contribute to skin tags and internal malignancies in skin tag subjects? A pilot study

Genetic polymorphisms mediating behavioural and immune response to pathogens may moderate the impact of the COVID-19 pandemic: a pilot study

10.1101/2020.06.03.20120998 ◽

2020 ◽

Author(s):

Ravi Philip Rajkumar

Keyword(s):

Immune Response ◽

Pilot Study ◽

Immune Responses ◽

Genetic Variants ◽

Mortality Rates ◽

Therapeutic Strategies ◽

Published Data ◽

Entire World ◽

S Allele ◽

The Impact

AbstractBackgroundThe COVID-19 pandemic has affected the entire world, but there are wide variations in prevalence and mortality across nations. Genetic variants which influence behavioural or immune responses to pathogens, selected for by pathogen pressure, may influence this variability. Two relevant polymorphisms in this context are the s allele of the serotonin transporter promoter (5-HTTLPR) and the G allele of the interleukin-6 gene (IL-6 rs1800795).MethodsThe frequencies of the 5-HTTLPR s allele and IL-6 rs1800795 G allele were obtained from published data. The correlations between these allele frequencies and the prevalence and mortality rates of COVID-19 were examined across 44 nations.ResultsThe IL-6 rs1800795 G allele was negatively correlated with COVID-19 prevalence (ρ = −0.466, p < 0.01) and mortality (ρ = −0.591, p<0.001) across nations. The 5-HTTLPR s allele was negatively correlated with COVID-19 mortality rates (ρ = −0.437, p = 0.023).ConclusionsThese results suggest that a significant relationship exists between genetic variants that influence behavioural and immune responses to pathogens and indices of the impact of COVID-19 across nations. Further investigation of these variants and their correlates may permit the development of better preventive or therapeutic strategies in the management of the COVID-19 pandemic.

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PCSK9 genetic variants in patients with coronary artery disease - A pilot study

Atherosclerosis ◽

10.1016/j.atherosclerosis.2018.06.708 ◽

2018 ◽

Vol 275 ◽

pp. e224-e225

Author(s):

T.F. Ashavaid ◽

A. Bane ◽

C.K. Ponde ◽

R.M. Rajani ◽

S. Pillai

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Pilot Study ◽

Genetic Variants ◽

Artery Disease

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Genetic variants associated with coronary atherosclerosis in Indians using a microarray approach: A pilot study

Atherosclerosis ◽

10.1016/j.atherosclerosis.2014.05.656 ◽

2014 ◽

Vol 235 (2) ◽

pp. e221

Author(s):

T. Ashavaid ◽

N. Sripriya ◽

S. Ashley ◽

P.A. Kadam ◽

P.K. Chawla ◽

...

Keyword(s):

Pilot Study ◽

Genetic Variants ◽

Coronary Atherosclerosis

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823 IL28B GENETIC VARIANTS ARE NOT ASSOCIATED WITH SERUM IL28B LEVELS IN ADULTS WITH CHRONIC HEPATITIS C. PILOT STUDY

Journal of Hepatology ◽

10.1016/s0168-8278(12)60835-6 ◽

2012 ◽

Vol 56 ◽

pp. S321

Author(s):

J. Bialkowska ◽

J. Szemraj ◽

M. Jablkowski

Keyword(s):

Chronic Hepatitis ◽

Hepatitis C ◽

Pilot Study ◽

Chronic Hepatitis C ◽

Genetic Variants

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Pilot study of expanded newborn screening for 573 genes related to severe diseases in China: results from 1173 newborns

10.21203/rs.2.13332/v3 ◽

2019 ◽

Author(s):

Xiaomei Luo ◽

Yu Sun ◽

Feng Xu ◽

Jun Guo ◽

Lin Li ◽

...

Keyword(s):

Pilot Study ◽

Genetic Analysis ◽

Newborn Screening ◽

Genetic Variants ◽

Metabolic Diseases ◽

False Negative ◽

Dried Blood Spots ◽

Carnitine Deficiency ◽

Chinese Patients ◽

Inherited Metabolic Diseases

Abstract Background: Current newborn screening (NBS) in China is mainly aimed at detecting biochemical levels of metabolites in the blood, which may generate false positive/negative results. To explore whether next-generation sequencing (NGS) for dried blood spots can increase the detecting rate of genetic disorders, we carried out a pilot study using NGS in 1,173 newborns who had been tested by traditional NBS. With a focus on inherited metabolic diseases (IMDs), our team investigated the current frequencies of genes related to common inherited metabolic diseases in this cohort. Methods: We designed an NGS panel of 573 genes related to severe diseases and performed NBS in 1,173 individuals who had been screened by tandem mass spectrometry (MS/MS) as well as for phenylalanine (Phe), thyroid-stimulating hormone (TSH), 17-α-hydroxyprogesterone (17-OHP), and glucose-6-phosphate dehydrogenase (G6PD) abnormalities in a traditional biochemical NBS conducted in September 2016. We compared the biochemical results to the genetic variants and investigated the carrier frequencies of 77 genes related to disorders by MS/MS in these newborns.Results: The biochemical results showed that four newborns (all male) were positive for G6PD by enzymatic assay, while the other biochemical findings including MS/MS, Phe, TSH and 17-OHP were negative. Genetic analysis results revealed that all the four newborns with positive G6PD values harbored hemizygous G6PD mutations. The NGS results also revealed an individual (ID 84123) carrying two SLC22A5 mutations (c.760C>T/p.R254* and c.1400C>G/p.S467C) common in Chinese patients with carnitine deficiency, which were later verified to be in trans, who was biochemically negative in 2016. The MS/MS results in 2019 showed free carnitine deficiency, consistent with the genetic analysis findings. The top five genes with the highest carrier frequencies in these newborns were PAH (1.77%), ETFDH (1.24%), MMACHC (1.15%), SLC25A13 (0.98%), and GCDH (0.80%). Conclusions: Our study provided data combing biochemical results with genetic variants in 1,173 newborns and confirmed a primary carnitine deficiency patient with false-negative biochemical results. This is also the first study to report the carrier frequencies of 77 IMD-causing genes in China.

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Pilot study of expanded newborn screening for 573 genes related to severe diseases in China: results from 1173 newborns

10.21203/rs.2.13332/v2 ◽

2019 ◽

Author(s):

Xiaomei Luo ◽

Yu Sun ◽

Feng Xu ◽

Jun Guo ◽

Lin Li ◽

...

Keyword(s):

Pilot Study ◽

Genetic Analysis ◽

Newborn Screening ◽

Genetic Variants ◽

Metabolic Diseases ◽

False Negative ◽

Dried Blood Spots ◽

Carnitine Deficiency ◽

Chinese Patients ◽

Inherited Metabolic Diseases

Abstract Background: Current newborn screening (NBS) in China is mainly aimed at detecting biochemical levels of metabolites in the blood, which may generate false positive/negative results. To explore whether next-generation sequencing (NGS) for dried blood spots can increase the detecting rate, we carried out a pilot study using NGS in 1,173 newborns who had been tested by traditional NBS. With a focus on inherited metabolic diseases (IMDs), our team investigated the current frequencies of genes related to common inherited metabolic diseases in this cohort. Methods: We designed an NGS panel of 573 genes related to severe diseases and performed NBS in 1,173 individuals who had been screened by tandem mass spectrometry (MS/MS) as well as for phenylalanine (Phe), thyroid-stimulating hormone (TSH), 17-α-hydroxyprogesterone (17-OHP), and glucose-6-phosphate dehydrogenase (G6PD) abnormalities in a traditional biochemical NBS conducted in September 2016. We compared the biochemical results to the genetic variants and investigated the carrier frequencies of 77 genes related to disorders by MS/MS in these newborns.Results: The biochemical results showed that four newborns (all male) were positive for G6PD by enzymatic assay, while the other biochemical findings including MS/MS, Phe, TSH and 17-OHP were negative. Genetic analysis results revealed that all the four newborns with positive G6PD values harbored hemizygous G6PD mutations. The NGS results also revealed an individual (ID 84123) carrying two SLC22A5 mutations (c.760C>T/p.R254* and c.1400C>G/p.S467C) common in Chinese patients with carnitine deficiency, which were later verified to be in trans, who was biochemically negative in 2016. The MS/MS results in 2019 showed free carnitine deficiency, consistent with the genetic analysis findings. The top five genes with the highest carrier frequencies in these newborns were PAH (1.77%), ETFDH (1.24%), MMACHC (1.15%), SLC25A13 (0.98%), and GCDH (0.80%). Conclusions: Our study provided data combing biochemical results with genetic variants in 1,173 newborns and confirmed a primary carnitine deficiency patient with false-negative biochemical results. This is also the first study to report the carrier frequencies of 77 IMD-causing genes in China.

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Nutrigenetic variants and response to diet/lifestyle intervention in obese subjects: a pilot study

Acta Diabetologica ◽

10.1007/s00592-021-01787-7 ◽

2021 ◽

Author(s):

Marica Franzago ◽

Marta Di Nicola ◽

Federica Fraticelli ◽

Michele Marchioni ◽

Liborio Stuppia ◽

...

Keyword(s):

Physical Activity ◽

Pilot Study ◽

Lifestyle Intervention ◽

Genetic Variants ◽

Genetic Background ◽

Significant Interaction ◽

Nutritional Intervention ◽

Clinical Parameters ◽

Activity Levels ◽

Obese Subjects

Abstract Aims Nutritional and lifestyle interventions can contribute to prevent and treat obesity and its complications; however, genetic background may influence the success of a therapy. The aim of this pilot study is to evaluate the effects of the interaction between nutrigenetic variants and nutritional intervention, as well as the changes in clinical parameters and the adherence to Mediterranean diet (MedDiet) and to physical activity, of 18 overweight or obese subjects affected by T2D or dysglycemia included in a nutritional program. Methods The subjects’ clinical parameters as well as their PREDIMED score and physical activity levels were recorded and compared at baseline, at 6 months and at the end of the intervention. Rs9939609 in FTO, rs17782313 near MC4R, rs326 in LPL, rs16147 in NPY, rs2943641 near IRS-1 were genotyped. Results The subjects carrying the A allele in FTO lost less weight (p = 0.022) and had a lower BMI decrease from baseline to 12 months (p-interaction = 0.047) than TT carriers. In addition, there was a significant PREDIMED score modification over time, according to genotypes for FTO rs9939609 (p = 0.025) and NPY rs16147 (p = 0.039), respectively. Conclusions These preliminary findings show a significant interaction between genetic variants and the PREDIMED score, suggesting that individuals carrying the FTO variant may lose less weight than non-carriers through diet/lifestyle intervention.

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