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Objective: To investigate the vitamin D receptor (vitamin D receptor, VDR) gene Apa I polymorphism of the relationship between bone metabolism in patients with end-stage liver disease . Methods: The subjects were divided into end-stage liver disease group ( 72 cases ) and control group ( 50 cases , patients with primary osteoporosis and bone mass decreased ) . Detect VDR gene Apa Ⅰ polymorphism by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) , dual - energy X - ray absorptiometry (DXA) to detect the lumbar spine (L1-4) and femoral neck BMD (bone mineral density, BMD), and to detect bone metabolism indicators , including parathyroid hormone (parathyroid hormone, PTH), osteocalcin ( bone of gla and protein , BGP ) , calcium (calcium , Ca) , serum phosphorus ( phosphate , P ) , hypercalciuria (urinary calcium, uCa), urine creatinine (urinary creatinine, uCr). Results : (1) Apa Ⅰ polymorphism allele frequency distribution in Hardy-Weinberg 's law , end-stage liver disease group genotype distribution for the AA ( 12.5% ??) , Aa (34.7 % ) , aa ( 52, 8% of ) ; control group genotype distribution for the AA (10.0%), Aa (36.0%), aa (54.0%). Genotype frequency distribution of differences between the two groups was not statistically significant (P gt; 0.05). (2 ) covariance analysis showed Apa I genotype and L1-4 and femoral neck BMD related end-stage liver disease group ( P lt; 0.05 ) , the AA genotype L1 - 4 and femoral neck BMD was significantly higher than that of aa type (P lt; 0.05, P lt; 0.05). Group of end-stage liver disease , reduced bone mass group Apa Ⅰ genotype and L1-4 and femoral neck BMD ( P lt; 0.05 , P lt; 0.01) are related , Aa genotype L1-4 BMD than aa (P lt ; 0.05) , the aA genotype femoral neck BMD is higher than aa and aa (P lt ; 0.01 , P lt ; 0 , 001) ; Apa I genotype and L1-4 and femoral neck BMD no significant correlation in the control group , sex . ( 3 ) end- stage liver disease group and end-stage liver disease decreased bone mass group , Apa I genotypes associated with levels of BGP the AA genotype BGP level than aa (P lt ; 0.05) ; Apa I genotype with PTH, serum Ca , blood P and uCa / Cr level differences are not statistically significant. Conclusion : The average correlation patients with end-stage liver disease VDR gene Apa Ⅰ polymorphism with BMD and BGP water Apa I sites of polymorphism with end-stage liver disease in patients with bone metabolism correlated .
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