Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia

被引：38

作者：

Ferrara, M ^{[1
]}

Matarese, SMR ^{[1
]}

Francese, M ^{[1
]}

Borrelli, B ^{[1
]}

Coppola, A ^{[1
]}

Coppola, L ^{[1
]}

Esposito, L ^{[1
]}

机构：

[1] Univ Naples 2, Dept Pediat, I-80138 Naples, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2002年 / 117卷 / 02期

关键词：

beta thalassaemia; height; bone mineral density; endocrine disorders; vitamin D receptor genotypes;

D O I：

10.1046/j.1365-2141.2002.03426.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in beta thalassaemia.

引用

收藏

页码：436 / 440

页数：5

相关论文

共 12 条

[1] CALCIUM-ABSORPTION ON HIGH AND LOW-CALCIUM INTAKES IN RELATION TO VITAMIN-D-RECEPTOR GENOTYPE [J].

DAWSONHUGHES, B ;

HARRIS, SS ;

FINNERAN, S .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1995, 80 (12) :3657-3661

[2] Vitamin D receptor gene polymorphism in men and its effect on bone density and calcium absorption [J].

Francis, RM ;

Harrington, F ;

Turner, E ;

Papiha, SS ;

Datta, HK .

CLINICAL ENDOCRINOLOGY, 1997, 46 (01) :83-86

[3] PHYSICAL GROWTH - NATIONAL-CENTER-FOR-HEALTH-STATISTICS PERCENTILES [J].

HAMILL, PVV ;

DRIZD, TA ;

JOHNSON, CL ;

REED, RB ;

ROCHE, AF ;

MOORE, WM .

AMERICAN JOURNAL OF CLINICAL NUTRITION, 1979, 32 (03) :607-629

[4] The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women [J].

Harris, SS ;

Eccleshall, TR ;

Gross, C ;

DawsonHughes, B ;

Feldman, D .

JOURNAL OF BONE AND MINERAL RESEARCH, 1997, 12 (07) :1043-1048

[5]

Jensen CE, 1998, BRIT J HAEMATOL, V103, P911

[6] Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene [J].

Minamitani, K ;

Takahashi, Y ;

Minagawa, M ;

Yasuda, T ;

Niimi, H .

PEDIATRIC RESEARCH, 1998, 44 (05) :628-632

[7] PREDICTION OF BONE-DENSITY FROM VITAMIN-D RECEPTOR ALLELES [J].

MORRISON, NA ;

QI, JC ;

TOKITA, A ;

KELLY, PJ ;

CROFTS, L ;

NGUYEN, TV ;

SAMBROOK, PN ;

EISMAN, JA .

NATURE, 1994, 367 (6460) :284-287

[8] Osteoporosis in β-thalassaemia major patients:: analysis of the genetic background [J].

Perrotta, S ;

Cappellini, MD ;

Bertoldo, F ;

Servedio, V ;

Iolascon, G ;

D'Agruma, L ;

Gasparini, P ;

Siciliani, MC ;

Iolascon, A .

BRITISH JOURNAL OF HAEMATOLOGY, 2000, 111 (02) :461-466

[9]

Pollak RD, 2000, BRIT J HAEMATOL, V111, P902

[10] Interactive effect of estradiol and vitamin D receptor gene polymorphisms as a possible determinant of growth in male and female infants [J].

Suarez, F ;

Rossignol, C ;

Garabédian, M .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (10) :3563-3568