Late age at menarche (AAM), an important type of endocrinopathy in females, is associated with lower bone mineral density (BMD), a major risk factor for osteoporosis. The correlation is mainly mediated through common genetic factors, which are largely unknown. A bivariate genome-wide linkage scan was conducted on 2,522 females from 414 Caucasian pedigrees to identify quantitative trait loci influencing both AAM and BMD. The strongest linkage signal was detected on chromosome 22q13. Other regions such as the 3q13, 3p25, 7p15, and 15q13 were also suggested. The inferred promising candidate genes in the linkage regions may contribute to our understanding of pathogenesis of endocrinopathy and osteoporosis in females.
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