title: Linkage and association of the CA repeat polymorphism of the IL6 gene, obesity-related phenotypes, and bone mineral density (BMD) in two independent Caucasian populations.
abstract: Genetic factors play an important role in osteoporosis and obesity, two serious public health problems in the world. We investigated the relationships between obesity-related phenotypes, bone mineral density (BMD) and the CA repeat polymorphism of the IL6 gene in two large independent samples using the quantitative transmission disequilibrium test (QTDT). The first sample consisted of 1,816 individuals from 79 multigenerational pedigrees. Each pedigree was identified through a proband with BMD Z-scores </=-1.28 at the hip or spine. The second sample was a randomly ascertained set of 636 individuals from 157 nuclear families. Ten alleles containing 9-18 CA repeats were identified in our Caucasian populations. For body mass index (BMI), fat mass and percentage fat mass (PFM), highly significant (P<0.01) or significant (P<0.05) results were found for linkage in our sample of nuclear families and for association in the multigenerational pedigrees. We also observed weak evidence for linkage (P=0.069) with spine BMD and for association with hip BMD in the sample of multigenerational pedigrees. Our results suggest that genetic variation in or near the IL6 locus may be involved in the etiology of obesity and osteoporosis.
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.|Department of Biomedical Sciences, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.|Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, ChangSha, Hunan, P.R. China.
authors.forename: Qing-Yang
authors.initials: QY
authors.lastname: Huang
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.|Department of Biomedical Sciences, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Shen
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.
authors.forename: Hong-Yi
authors.initials: HY
authors.lastname: Deng
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.
authors.forename: Theresa
authors.initials: T
authors.lastname: Conway
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.
authors.forename: K Michael
authors.initials: KM
authors.lastname: Davies
authors.affiliation: Center for Medical Informatics, School of Medicine, Yale University, 333 Cedar Street, P.O. Box 208009, New Haven, CT, 06520-8009, USA.
authors.forename: Jin-Long
authors.initials: JL
authors.lastname: Li
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.
authors.forename: Robert R
authors.initials: RR
authors.lastname: Recker
authors.affiliation: Osteoporosis Research Center, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA. deng@creighton.edu.|Department of Biomedical Sciences, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA. deng@creighton.edu.|Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, ChangSha, Hunan, P.R. China. deng@creighton.edu.
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015519:Bone Density / Q000235:genetics*; D018900:Dinucleotide Repeats; D005260:Female; D005787:Gene Frequency; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D015850:Interleukin-6