scholarly journals Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population

2011 ◽  
Vol 9 (4) ◽  
pp. 152-160 ◽  
Author(s):  
Sang-Hoon Moon ◽  
Young-Jin Kim ◽  
Yun-Kyoung Kim ◽  
Dong-Joon Kim ◽  
Ji-Young Lee ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Body Mass Index ◽  
Body Mass ◽  
Copy Number ◽  
Copy Number Variants ◽  
Korean Population ◽  
Genome Wide ◽  
Genome Wide Survey

scholarly journals Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

2011 ◽  
Vol 17 (4) ◽  
pp. 421-432 ◽  
Author(s):  
L Priebe ◽  
F A Degenhardt ◽  
S Herms ◽  
B Haenisch ◽  
M Mattheisen ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Early Onset ◽  
Copy Number ◽  
Copy Number Variants ◽  
Genome Wide ◽  
Genome Wide Survey

scholarly journals Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

2017 ◽  
Vol 2017 ◽  
pp. 1-10 ◽  
Author(s):  
Diana Lizzete Antúnez-Ortiz ◽  
Eugenia Flores-Alfaro ◽  
Ana Isabel Burguete-García ◽  
Amélie Bonnefond ◽  
Jesús Peralta-Romero ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Abdominal Obesity ◽  
Copy Number ◽  
Copy Number Variants ◽  
Copy Number Variations ◽  
Blood Levels ◽  
Mexican Children ◽  
Gradual Process ◽  
Intergenic Regions

Introduction. Increase in body weight is a gradual process that usually begins in childhood and in adolescence as a result of multiple interactions among environmental and genetic factors. This study aimed to analyze the relationship between copy number variants (CNVs) in five genes and four intergenic regions with obesity in Mexican children.Methods. We studied 1423 children aged 6–12 years. Anthropometric measurements and blood levels of biochemical parameters were obtained. Identification of CNVs was performed by real-time PCR. The effect of CNVs on obesity or body composition was assessed using regression models adjusted for age, gender, and family history of obesity.Results. Gains in copy numbers ofLEPRandNEGR1were associated with decreased body mass index (BMI), waist circumference (WC), and risk of abdominal obesity, whereas gain inARHGEF4andCPXCR1and the intergenic regions 12q15c, 15q21.1a, and 22q11.21d and losses inINSwere associated with increased BMI and WC.Conclusion. Our results indicate a possible contribution of CNVs inLEPR,NEGR1,ARHGEF4, andCPXCR1and the intergenic regions 12q15c, 15q21.1a, and 22q11.21d to the development of obesity, particularly abdominal obesity in Mexican children.

scholarly journals Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy

2019 ◽  
Vol 34 (7) ◽  
pp. 1049-1059 ◽  
Author(s):  
Zhongbo Chen ◽  
Jason A. Chen ◽  
Aleksey Shatunov ◽  
Ashley R. Jones ◽  
Stephanie N. Kravitz ◽  
...  
Keyword(s):  
Progressive Supranuclear Palsy ◽  
Copy Number ◽  
Copy Number Variants ◽  
Genome Wide ◽  
Genome Wide Survey

scholarly journals Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins

PLoS ONE ◽  
2021 ◽  
Vol 16 (2) ◽  
pp. e0246436
Author(s):  
Zhaoying Li ◽  
Weijing Wang ◽  
Xiaocao Tian ◽  
Haiping Duan ◽  
Chunsheng Xu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Body Mass Index ◽  
Body Mass ◽  
Genetic Variants ◽  
Quantitative Trait ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Northern Chinese

Recently, new loci related to body mass index (BMI) or blood pressure (BP) have been identified respectively in genome-wide association studies (GWAS). However, limited studies focused on jointly associated genetic variance between systolic pressure (SBP), diastolic pressure (DBP) and BMI. Therefore, a bivariate twin study was performed to explore the genetic variants associated with BMI-SBP, BMI-DBP and SBP-DBP. A total of 380 twin pairs (137 dizygotic pairs and 243 monozygotic pairs) recruited from Qingdao Twin Registry system were used to access the genetic correlations (0.2108 for BMI-SBP, 0.2345 for BMI-DBP, and 0.6942 for SBP-DBP, respectively) by bivariate Cholesky decomposition model. Bivariate GWAS in 137 dizygotic pairs nominated 27 single identified 27 quantitative trait nucleotides (QTNs) for BMI and SBP, 27 QTNs for BMI and DBP, and 25 QTNs for SBP and DBP with the suggestive P-value threshold of 1×10−5. After imputation, we found eight SNPs, one for both BMI-SBP and SBP-DBP, and eight for SBP-DBP, exceed significant statistic level. Expression quantitative trait loci analysis identified rs4794029 as new significant eQTL in tissues related to BMI and SBP. Also, we found 6 new significant eQTLs (rs4400367, rs10113750, rs11776003, rs3739327, rs55978930, and rs4794029) in tissues were related to SBP and DBP. Gene-based analysis identified nominally associated genes (P < 0.05) with BMI-SBP, BMI-DBP, and SBP-DBP, respectively, such as PHOSPHO1, GNGT2, KEAP1, and S1PR5. In the pathway analysis, we found some pathways associated with BMI-SBP, BMI-DBP and SBP-DBP, such as prion diseases, IL5 pathway, cyclin E associated events during G1/S transition, TGF beta signaling pathway, G βγ signaling through PI3Kγ, prolactin receptor signaling etc. These findings may enrich the results of genetic variants related to BMI and BP traits, and provide some evidences to future study the pathogenesis of hypertension and obesity in the northern Chinese population.

scholarly journals Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics

2012 ◽  
Vol 2 (1) ◽  
pp. 71-78 ◽  
Author(s):  
Mahdi Ghani ◽  
Dalila Pinto ◽  
Joseph H. Lee ◽  
Yakov Grinberg ◽  
Christine Sato ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Copy Number ◽  
Copy Number Variants ◽  
Genome Wide ◽  
Genome Wide Survey

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability

2013 ◽  
Vol 162 (8) ◽  
pp. 847-854 ◽  
Author(s):  
Eske M. Derks ◽  
Muhammad Ayub ◽  
Kimberly Chambert ◽  
Jurgen Del Favero ◽  
Mandy Johnstone ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Copy Number Variants ◽  
Genome Wide ◽  
A Genome ◽  
Genome Wide Survey

2496-PUB: Effect of Body Mass Index on HbA1c, Blood Pressure, and Cholesterol (ABC) Control in Patients with Type 2 Diabetes from Tibet in China

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 2496-PUB
Author(s):  
ZHANG CHENGHUI ◽  
LI MINGXIA ◽  
WANG SUYUAN ◽  
WU YUNHONG
Keyword(s):  
Blood Pressure ◽  
Type 2 Diabetes ◽  
Body Mass Index ◽  
Body Mass

KEJADIAN PENYAKIT HIPERTENSI DAN INDEKS MASSA TUBUH PADA PEREMPUAN YANG TINGGAL DI PEDESAAN DAN PERKOTAAN

2019 ◽  
pp. 127-136
Author(s):  
Venti Agustina
Keyword(s):  
Blood Pressure ◽  
Body Mass Index ◽  
Body Mass ◽  
Rural Women ◽  
Urban Areas ◽  
Stage I ◽  
Normal Body Mass Index ◽  
Cross Sectional ◽  
Normal Body ◽  
Stadium I

Hipertensiadalah penyebab kematian utama di Indonesia. Kematian akibat hipertensi lebih banyak terjadi di perkotaan dibandingkan di desa. Tingginya kejadian hipertensi dipengaruhi oleh faktor yang dapat dikontrol (obesitas,berat badan lebih, konsumsi garam berlebih,aktivitas fisik rendah, perokok, dan konsumsi alkohol) dan faktor yang tidak dapat dikontrol (genetik, usia, dan jenis kelamin). Penelitian bertujuan memberikan gambarandistribusi tekanan darah dan indeks massa tubuh (IMT) pendudukperempuan di kota maupun di desa.Desain penelitian adalah deskriptif kuatitatif dengan pendekatan cross sectional. Data primer didapatkan melalui pengukuran tekanan darah, tinggi badan dan berat badan. Penelitian dilakukan di Desa Kutowinangun Kidul, Kecamatan Tingkir,Salatiga yang mewakili penduduk perempuan di perkotaan dan Desa Batur, Kecamatan Getasan, Kabupaten Semarangyang mewakili penduduk perempuan pedesaan. Adapun jumlah sampel masing-masing 66 respondendan 72responden. Hasil penelitian menunjukkan bahwa kejadian penyakit hipertensi, resiko obese dan obese lebih didominasi oleh respondendi perkotaan dibandingkan di pedesaan dengan rentang usia di atas 46 tahun. Respondendi desa dengan indeks massa tubuh normal cenderung mengalami pre-hipertensi (8,3%) dan hipertensi stadium I (6,9%) sementararesponden dengan resiko obese dan obese cenderung mengalami hipertensi stadium I (1,4%).Respondendi kota dengan indeks massa tubuh normal cenderung mengalami pre hipertensi (6,06%), hipertensi stadium I (4,5%) dan II (7,5%). Responden dengan resiko obese cenderung mengalami hipertensi stadium I (4,5%), dan responden dengan obese I dan II cenderung mengalami pre-hipertensi (4,5%).   Hypertension is the leading cause of death in Indonesia. Deaths due to hypertension are more common in urban areas than in villages. The high incidence of hypertension is influenced by factors that can be controlled (obesity, overweight, excessive salt consumption, low physical activity, smokers, and alcohol consumption) and factors that cannot be controlled (genetic, age, and sex). The study aimed to provide an overview of blood pressure distribution and body mass index (BMI) of female residents in cities and villages. The study design was descriptive quantitative with a cross sectional approach. Primary data was obtained through measurements of blood pressure, height and weight. The study was conducted in Kutowinangun Kidul Village, Tingkir Subdistrict, Salatiga representing women in urban areas and Batur Village, Getasan Subdistrict, Semarang Regency, representing rural women. The number of samples was 66 respondents and 72 respondents respectively. The results showed that the incidence of hypertension, the risk of obese and obese was more dominated by respondents in urban areas than in rural areas with ages above 46 years. Respondents in villages with normal body mass index tended to experience pre-hypertension (8.3%) and stage I hypertension (6.9%) while respondents with obese and obese risk tended to experience stage I hypertension (1.4%). Respondents in cities with normal body mass index tended to experience pre-hypertension (6.06%), stage I hypertension (4.5%) and II (7.5%). Respondents with obese risk tended to experience stage I hypertension (4.5%), and respondents with obese I and II tended to experience pre-hypertension (4.5%).

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