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Article: Estrogen Receptor α Gene Polymorphisms and Peak Bone Density in Chinese Nuclear Families

TitleEstrogen Receptor α Gene Polymorphisms and Peak Bone Density in Chinese Nuclear Families
Authors
Issue Date2003
PublisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.html
Citation
Journal Of Bone And Mineral Research, 2003, v. 18 n. 6, p. 1028-1035 How to Cite?
AbstractPBD is an important determinant of osteoporotic fractures. Few studies were performed to search for genes underlying PBD variation in Chinese populations. We tested linkage and/or association of the estrogen receptor α gene polymorphism with PBD in 401 Chinese nuclear families. This study suggests the ER-α gene may have some minor effects on PBM variation in the Chinese population. Low peak bone density (PBD) in adulthood is an important determinant of osteoporotic fractures in the elderly. PBD variation is mainly regulated by genetic factors. Extensive molecular genetics studies have been performed to search for genes underlying PBD variation, largely in whites. Few studies were performed in Chinese populations. In this study, we simultaneously test linkage and/or association of the estrogen receptor α (ER-α) gene polymorphism with PBD in 401 Chinese nuclear families (both parents plus their female children) of 1260 subjects, with the 458 children generally between 20 and 40 years of age. All the subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at polymorphic PvuII and XbaI sites inside the ER-α gene. Bone mineral density was measured at the lumbar spine (L1-L4) and hip (femoral neck, trochanter, and intertrochanteric region). Raw bone mineral density values were adjusted by age, height, and weight as covariates. We detected marginally significant results for within-family association (transmission disequilibrium; p = 0.054) between the spine bone mineral density variation and the ER-α XbaI genotypes. For the hip bone mineral density variation, significant (p < 0.05) linkage results were generally found for the two intragenic markers. Analyses of the haplotypes defined by the two markers confer further evidence for linkage of the ER-α with the hip PBD variation. In conclusion, this study suggests that the ER-α gene may have minor effects on PBD variation in our Chinese population.
Persistent Identifierhttp://hdl.handle.net/10722/181190
ISSN
2015 Impact Factor: 5.622
2015 SCImago Journal Rankings: 2.773
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorQin, YJen_US
dc.contributor.authorShen, Hen_US
dc.contributor.authorHuang, QRen_US
dc.contributor.authorZhao, LJen_US
dc.contributor.authorZhou, Qen_US
dc.contributor.authorLi, MXen_US
dc.contributor.authorHe, JWen_US
dc.contributor.authorMo, XYen_US
dc.contributor.authorLu, JHen_US
dc.contributor.authorRecker, RRen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2013-02-21T02:02:38Z-
dc.date.available2013-02-21T02:02:38Z-
dc.date.issued2003en_US
dc.identifier.citationJournal Of Bone And Mineral Research, 2003, v. 18 n. 6, p. 1028-1035en_US
dc.identifier.issn0884-0431en_US
dc.identifier.urihttp://hdl.handle.net/10722/181190-
dc.description.abstractPBD is an important determinant of osteoporotic fractures. Few studies were performed to search for genes underlying PBD variation in Chinese populations. We tested linkage and/or association of the estrogen receptor α gene polymorphism with PBD in 401 Chinese nuclear families. This study suggests the ER-α gene may have some minor effects on PBM variation in the Chinese population. Low peak bone density (PBD) in adulthood is an important determinant of osteoporotic fractures in the elderly. PBD variation is mainly regulated by genetic factors. Extensive molecular genetics studies have been performed to search for genes underlying PBD variation, largely in whites. Few studies were performed in Chinese populations. In this study, we simultaneously test linkage and/or association of the estrogen receptor α (ER-α) gene polymorphism with PBD in 401 Chinese nuclear families (both parents plus their female children) of 1260 subjects, with the 458 children generally between 20 and 40 years of age. All the subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at polymorphic PvuII and XbaI sites inside the ER-α gene. Bone mineral density was measured at the lumbar spine (L1-L4) and hip (femoral neck, trochanter, and intertrochanteric region). Raw bone mineral density values were adjusted by age, height, and weight as covariates. We detected marginally significant results for within-family association (transmission disequilibrium; p = 0.054) between the spine bone mineral density variation and the ER-α XbaI genotypes. For the hip bone mineral density variation, significant (p < 0.05) linkage results were generally found for the two intragenic markers. Analyses of the haplotypes defined by the two markers confer further evidence for linkage of the ER-α with the hip PBD variation. In conclusion, this study suggests that the ER-α gene may have minor effects on PBD variation in our Chinese population.en_US
dc.languageengen_US
dc.publisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.htmlen_US
dc.relation.ispartofJournal of Bone and Mineral Researchen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshChinaen_US
dc.subject.meshEstrogen Receptor Alphaen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshHumansen_US
dc.subject.meshNuclear Familyen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshReceptors, Estrogen - Geneticsen_US
dc.titleEstrogen Receptor α Gene Polymorphisms and Peak Bone Density in Chinese Nuclear Familiesen_US
dc.typeArticleen_US
dc.identifier.emailLi, MX: mxli@hku.hken_US
dc.identifier.authorityLi, MX=rp01722en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1359/jbmr.2003.18.6.1028en_US
dc.identifier.pmid12817755-
dc.identifier.scopuseid_2-s2.0-10744229585en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-10744229585&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume18en_US
dc.identifier.issue6en_US
dc.identifier.spage1028en_US
dc.identifier.epage1035en_US
dc.identifier.isiWOS:000183089600010-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridQin, YJ=7403100918en_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridHuang, QR=25951408700en_US
dc.identifier.scopusauthoridZhao, LJ=7404455505en_US
dc.identifier.scopusauthoridZhou, Q=7402700311en_US
dc.identifier.scopusauthoridLi, MX=17135391100en_US
dc.identifier.scopusauthoridHe, JW=35215101000en_US
dc.identifier.scopusauthoridMo, XY=7102096615en_US
dc.identifier.scopusauthoridLu, JH=26642971800en_US
dc.identifier.scopusauthoridRecker, RR=7007086875en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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