Linkage Analysis in a Large Primary Osteoporosis Family

Balci B., Yildiz B. O., Ofir R., Dincer P., BAYRAKTAR M.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.33, sa.4, ss.215-222, 2008 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 4
  • Basım Tarihi: 2008
  • Dergi Adı: TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.215-222
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Rationale and objectives: Genetic factors play an important role in regulating bone mineral density and in the development of osteoporosis. In order to identify the gene(s) contributing to bone mineral density, we have performed a linkage approach in the largest primary osteoporosis family in the literature. Methods: This family was tested for a linkage to eight candidate genes: Bone gamma-carboxyglutamate protein, Chloride channel, Collagen type 1 alpha 1, Collagen type 1 alpha 2, Estrogen receptor alpha, Insulin like growth factor 1/somatomedin C, Low density lipoprotein receptor related protein 5 and Vitamine D receptor. The computations were performed with SuperLink v1.3. Results: The LOD score calculation and haplotype results of our study showed that none of these genes are responsible for low bone mineral density in this family. Conclusions: This study presents the largest primary osteoporosis family in the literature and suggests that Bone gamma-carboxyglutamate protein, Chloride channel 7, Collagen type 1 alpha 1, Collagen type 1 alpha 2, Estrogen receptor alpha, Insulin like growth factor 1/somatomedin C, Low density lipoprotein receptor related protein 5 and Vitamine D receptor genes are not responsible for low bone mineral density in this family.