Abstract: Great progresses were made in the genetic studies of osteoporosis during the past decade. Genetic variants of endocrine hormones, bone matrix proteins and cytokines involved in bone metabolism were closely associated with bone mineral density, bone quality, bone structure, bone turnover rate or osteoporotic fracture. We aimed to give a comprehensive review of the most important and representative molecular genetic studies in osteoporosis, and tried to think about the important problems which should be focused in osteoporosis molecular studies.