Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

Sha, Baoyong; Yang, Tie‐Lin; Zhao, Lan‐Juan; Chen, Xiang-Ding; Guo, Yan; Chen, Yuan; Pan, Feng; Zhang, Zhixin; Dong, Shanshan; Xu, Xianghong; Deng, Hong−Wen

doi:10.1038/jhg.2009.10

Cited by 76 publications

(67 citation statements)

References 32 publications

(33 reference statements)

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“…CNV loci overlapping LPA and JAK2 were observed with nonsignificant p-values. In the association stage, other well-established risk loci such as ATP2B1, FTO, MC4R, PPYR1, ST7L-CAPZA1, FIGN-GRB14, EN-PEP, NPR3, and TBX3 that were observed in previous GWAS or CNV studies (Sha et al, 2009;Levy et al, 2009;Newton-Cheh et al, 2009;Kato et al, 2011;Frayling et al, 2007;Loos et al, 2008;Glessner et al, 2010;Dorajoo et al, 2011) were not observed in our current study. There are some potential reasons for why these loci were not significantly observed in our study.…”

Section: Discussioncontrasting

confidence: 44%

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

Moon¹,

Kim²,

Kim³

et al. 2011

Genomics & Informatics

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Hypertension is the major factor of most death and high blood pressure (BP) can lead to stroke, myocardial infarction and cardiac failure. Moreover, hypertension is strongly correlated with body mass index (BMI). Although the exact causes of hypertension are still unclear, some of genetic loci were discovered from genome-wide association study (GWAS). Therefore, it is essential to study genetic variation for finding more genetic factor affecting hypertension. The purpose of our study is to conduct a CNV association study for hypertension-related traits, BP and BMI, in Korean individuals. We identified 2,206 CNV regions from 3,274 community-based Korean participants using the Affymetrix Genome-Wide Human SNP Array 6.0 platform and performed a logistic regression analysis of CNVs with two hypertension-related traits, BP and BMI. Moreover, the 4,692 participants in an independent cohort were selected for respective replication analyses. GWAS of CNV identified two loci encompassing previously known hypertension-related genes: LPA (lipoprotein) on 6q26, and JAK2 (Janus kinase 2) on 9p24, with suggestive p-values (0.0334 for LPA and 0.0305 for JAK2 ). These two positive findings, however, were not evaluated in the replication stage. Our result confirmed the conclusion of CNV study from the WTCCC suggesting weak association with common diseases. This is the first study of CNV association study with BP and BMI in Korean population and it provides a state of CNV association study with common human diseases using SNP array.

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Section: Discussioncontrasting

confidence: 44%

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

Moon¹,

Kim²,

Kim³

et al. 2011

Genomics & Informatics

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“…The region in question has PPYR1 gene, regulating energy balance. 57,58 Amylase gene CNVs is found not only contributing to the disease in general but also is found to be involved with diet, such as salivary amylase gene (AMY1 gene), which is associated with the starchy food consumption in a population. It has been reported that higher copy number of AMY1 gene is correlated positively with salivary amylase protein levels and a population with high-starch food consumption has higher copy number of AMY1 gene and improves the digestion of starchy foods and may reduce the burden of intestinal diseases.…”

Section: Cnv and Susceptibility To Other Common Disorders Hiv/aids Sumentioning

confidence: 99%

Implications of gene copy-number variation in health and diseases

2011

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“…[39]reportedgenome-widesignificantassociationwithBMIofanSNPcapturingacommon45-kbdeletion near NEGR1 (neuronal growth regulator 1 precursor gene). ThisCNVwasdetectedinameta-analysisof15GWAScom-prisingmorethan32,000individuals.Recently,anothercommon CNV (chromosome 10p11.22) was shown to be associatedwithBMI [56]inaChinesesample(unadjustedp-value 0.011). Furthermore, Speliotes et al [1] identified two SNPs thattagcommonCNVs,oneofwhichwasalreadydiscovered [39].TheotherCNVisadeletionof21kbthatlies50kbup-stream of GPRC5B (G-protein coupled receptor family C group5memberBgene).TheT-alleleofrs12444979tagsthe deletionallele(r 2 =1).HoweverananalysisofCNVswithout theaidoftaggingSNPsislackingintheGIANTapproach.…”

Section: Polygenic Obesitymentioning

confidence: 99%

Chipping Away the ‘Missing Heritability’: GIANT Steps Forward in the Molecular Elucidation of Obesity – but Still Lots to Go

Hebebrand¹,

Volckmar²,

Knoll³

et al. 2010

Obes Facts

101

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Although heritability of human body weight is assumed to be high, only a small fraction of the variance can as yet be attributed to molecular genetic factors. Single monogenic forms of obesity have been identified. Functionally relevant coding mutations in the melanocortin-4 receptor gene occur in 1–6% of extremely obese children and adolescents and thus represent the most common major gene effect. Genome-wide association studies (GWAS) had previously identified 14 obesity loci with genome-wide significant (p < 5 x 10–8) associations. Many of the respective genes are expressed in the central nervous system. The GIANT (Genetic Investigation of ANtropometric Traits) Consortium has now performed a meta-analysis of GWAS data based on 123,865 individuals of European ancestry followed by confirmatory analyses for the 42 best independent loci in up to 125,931 independent individuals (Speliotes et al: Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index. Nature Genetics; epub October 2010 [1]). Apart from confirming the 14 known loci, 18 novel BMI-associated loci (p < 5 x 10–8) were identified. Several of the new loci point to genes involved in key hypothalamic pathways of energy balance. The identified variants mostly have small to very small effect sizes; only 1–2% of the BMI variance is explained. Currently, a consensus explanation for this ‘missing heritability’ in complex diseases has not yet emerged.

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Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

Cited by 76 publications

References 32 publications

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

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

Implications of gene copy-number variation in health and diseases

Chipping Away the ‘Missing Heritability’: GIANT Steps Forward in the Molecular Elucidation of Obesity – but Still Lots to Go

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