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Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease

100%

Horst-Sikorska W., Ignaszak-Szczepaniak M., Marcinkowska M., Kaczmarek M., Stajgis M., Slomski R.

Acta Biochimica Polonica

2008

tom 55

nr 2

371-380

Graves’ (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and Fok I may predispose women with Graves’ hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients’ BMD and also SNPs and haplotypes association with Graves’ disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and Taq I polymorphims that formed three most frequent haplotypes in Graves’ women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves’ patients. However, the presence of F allele had a weak tendency to be associated with Graves’ disease (with OR=1.93; 95% CI: 0.97–3.84; p=0.058). In conclusion: VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves’. It may be speculated that the F allele carriers of the VDR Fok I polymorphism are predisposed to Graves’ disease development

Associations of ATGL gene polymorphisms with chicken growth and fat traits

84%

Nie Q.-H., Fang M.-X., Xie L., Shen X., Liu J., Luo Z.-P., Shi J.-J., Zhang X.-Q.

Journal of Applied Genetics

2010

tom 51

nr 2

185-191

Adipose triglyceride lipase (ATGL) catalyses the initial step in triglyceride hydrolysis, so the ATGL gene is a candidate for growth and fat traits in chickens. Nine reported single-nucleotide polymorphisms (SNPs) located in 3 exons of the chicken ATGL gene were chosen for genotyping an F₂ population. Only 5 SNPs were confirmed for polymorphisms and used for association analyses. The results show that c.531G>A (p.E177Syn) was not associated with any growth and fat traits (P > 0.05), but c.782G>A (p.S261N) was associated with body weight (BW) on days 14, 21, 35, 63, 70, 77, cingulated fat width and abdominal fat pad weight (P < 0.05), and significantly associated with BW on days 42, 49, and 56 (P < 0.01). Significant associations of c.903C>T (p.F301Syn) with BW on days 49 and 77 days and crude protein content of breast muscle (P < 0.05), and c. 1164G>A (p.K388Syn) with BW on day 7 (P < 0.05) were also detected. Additionally, c. 1069T>C (p.L357Syn) was associated with breast muscle colour (P < 0.05), and significantly associated with crude fat (ether extract) content of breast muscle (P < 0.01). Thus the missense SNP of c.782G>A (p.S261N) was significantly associated with the largest number of chicken growth and fat traits in this study.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Journal of Applied Genetics

1 Fang M.-X.

1 Horst-Sikorska W.

1 Ignaszak-Szczepaniak M.

1 Kaczmarek M.

1 Liu J.

1 Luo Z.-P.

1 Marcinkowska M.

1 Nie Q.-H.

1 Shen X.

1 Shi J.-J.

1 Slomski R.

1 Stajgis M.

1 Xie L.

1 Zhang X.-Q.

1 2010

1 2008

Wyniki wyszukiwania

Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease

Associations of ATGL gene polymorphisms with chicken growth and fat traits