Genome-wide association study of neck circumference identifies sex-specific loci independent of generalized adiposity
| Autor: | David R. Hillman, Xiaoyu Zhang, Diane T. Smelser, Ching-Ti Liu, Jiwon Lee, H. Lester Kirchner, Yaowu Liu, Hufeng Zhou, Xihong Lin, Brian E. Cade, Tamar Sofer, Sutapa Mukherjee, Susan Redline, Han Chen |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology Adult Male medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism Medicine (miscellaneous) Locus (genetics) Genome-wide association study 030204 cardiovascular system & hematology Biology Development Polymorphism Single Nucleotide Article 03 medical and health sciences Young Adult 0302 clinical medicine Sex Factors Internal medicine medicine Genetics Body Size Humans Human height Gene Adiposity Aged Aged 80 and over Nutrition and Dietetics Anthropometry Middle Aged medicine.disease Sexual dimorphism Obstructive sleep apnea 030104 developmental biology Phenotype Chromosome 3 Female Neck Genome-Wide Association Study |
| Zdroj: | International Journal of Obesity (2005) |
| ISSN: | 1476-5497 0307-0565 |
| Popis: | Background/objectives Neck circumference, an index of upper airway fat, has been suggested to be an important measure of body-fat distribution with unique associations with health outcomes such as obstructive sleep apnea and metabolic disease. This study aims to study the genetic bases of neck circumference. Methods We conducted a multi-ethnic genome-wide association study of neck circumference, adjusted and unadjusted for BMI, in up to 15,090 European Ancestry (EA) and African American (AA) individuals. Because sexually dimorphic associations have been observed for anthropometric traits, we conducted both sex-combined and sex-specific analysis. Results We identified rs227724 near the Noggin (NOG) gene as a possible quantitative locus for neck circumference in men (N = 8831, P = 1.74 × 10−9) but not in women (P = 0.08). The association was replicated in men (N = 1554, P = 0.045) in an independent dataset. This locus was previously reported to be associated with human height and with self-reported snoring. We also identified rs13087058 on chromosome 3 as a suggestive locus in sex-combined analysis (N = 15090, P = 2.94 × 10−7; replication P =0.049). This locus was also associated with electrocardiogram-assessed PR interval and is a cis-expression quantitative locus for the PDZ Domain-containing ring finger 2 (PDZRN3) gene. Both NOG and PDZRN3 interact with members of transforming growth factor-beta superfamily signaling proteins. Conclusions Our study suggests that neck circumference may have unique genetic basis independent of BMI. |
| Databáze: | OpenAIRE |
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