Association of estrogen receptor alpha gene polymorphisms with BMD and their affect on estradiol levels in pre- and postmenopausal women in south Indian population from Andhra Pradesh.
BACKGROUND
Osteoporosis is a multifactorial disorder with a strong genetic component and ESR1 is suggested as a candidate gene for osteoporosis. Therefore the present study is aimed to investigate the role of ESR1 gene polymorphisms and its influence on estradiol levels and BMD in osteoporotic women of Indian ethnicity.


METHODS
Four-hundred twenty-seven osteoporotic women and 460 age matched controls were included in the study. ESR1 gene polymorphism was assessed by PCR-RFLP method. Serum estradiol was measured by ELISA.


RESULTS
The frequency of pp and xx genotypes as well as p and x alleles was significantly high in pre- and postmenopausal osteoporotics when compared to controls (p<0.001). They had low BMD and estradiol levels in comparison with PP and XX genotype individuals (p<0.05).


CONCLUSIONS
The ESR1 gene is associated with low bone mass and low estradiol levels in all our study subjects. It is likely that the allele exerts its influence on the bone in early adulthood leading to an increased risk of osteoporosis later in life.
Jeedigunta
Yasovanthi
Y
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, A.P, India.
Bhoomi Reddy
Pulla Reddy
PR
Kolla
Venkata Karunakar
VK
Munshi
Anjana
A
Ananthapur
Venkateshwari
V
Narasimulu
G
G
Akka
Jyothy
J
D000328:Adult; D015519:Bone Density; D004958:Estradiol / Q000097:blood*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D017698:Postmenopause / Q000097:blood*; D017697:Premenopause / Q000097:blood*
D047628:Estrogen Receptor alpha; D004958:Estradiol