Effects of the CASR rs104893706 (A843E) gain- of-function mutation on bone mineral density in postmenopausal women by advanced age and smoking

Authors : Özlem KURNAZ GÖMLEKSİZ, Aysegul Basak TEKER, Fatih YANAR, Ezgi ASLAN, Özlem KURT ŞİRİN, Mehmet UYAR, Ayse CAN, Hülya YILMAZ AYDOĞAN

Pages : 129-135

View : 73 | Download : 12

Publication Date : 2022-08-30

Article Type : Research Paper

Abstract :Background and Aims: The G protein-coupled calcium-sensing receptor insert ignore into journalissuearticles values(CaSR); plays an important role in extracellular cal- cium homeostasis and regulation of parathyroid hormone insert ignore into journalissuearticles values(PTH); secretion. There are more than 300 activating/inactivating mutations in the CASR gene. However, the effects of both CaSR protein and CASR gene on bone mineral density insert ignore into journalissuearticles values(BMD); have not been investigated enough. The aim of this study was therefore to determine the effect of rs104893706 insert ignore into journalissuearticles values(A843E, insert ignore into journalissuearticles values(Ala to Glu at codon843););, a gain-of-function mutation of the CASR gene, on BMD in postmenopausal women. Methods: We studied the CASR A843E variation using Polymerase Chain Reaction-Restriction Fragment Length Polymor- phism methods in 180 postmenopausal women. Statistical analyses were performed using SPSS software package insert ignore into journalissuearticles values(version 21.0 SPSS Inc.,Chicago,IL,U.S.A.);. Results: No minor A allele, homozygous insert ignore into journalissuearticles values(AA); or heterozygous insert ignore into journalissuearticles values(CA);, was observed in the study population. In other words, the frequency of the CASR A843E common CC genotype was 100%. BMD levels of the lumbar spine insert ignore into journalissuearticles values(L1-L4);, femoral neck, and total hip were 1.03±0.13g/cm2, 0.87±0.11g/cm2, and 0.93±0.11g/cm2, respectively. Although the femoral neck insert ignore into journalissuearticles values(p=0.017);, upper neck insert ignore into journalissuearticles values(p=0.040);, lower neck insert ignore into journalissuearticles values(p=0.011);, and Ward’s triangle BMD values insert ignore into journalissuearticles values(p=0.005); were found significantly higher in younger postmenopausal women insert ignore into journalissuearticles values(age<55 years); compared to older postmenopausal women insert ignore into journalissuearticles values(age>=55 years);, there were no significant differences on BMD value of the lumbar spines, trochanter, and total hip between the age groups insert ignore into journalissuearticles values(p>0.05);. Conclusion: Our findings confirm the effects of advanced age in favor of decreased BMD in postmenopausal women. This study suggests that the CASR A843E gain-of-function mutation may not be associated with bone mineral density and osteo- porosis risk since we did not detect the A843E variation in Turkish postmenopausal women.
Keywords : Osteoporosis, Calcium sensing receptor, Gain of function mutation, Bone mineral density, Smoking

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