GHR Binder et al.15
|
53 girls with short stature due to TS |
Germany |
Girls with TS treated with rhGH therapy and carriers of one or two d3 alleles showed increased growth rate, exceeded the projected growth and showed a gain of 1.5cm in height |
60 children small for GA |
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62 controls |
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GHR Binder et al.16
|
48 women with TS |
Germany |
d3-GHR in homozygous state was associated with gain in height and the mean weight and BMI were lower in Group d3/d3 in patients undergoing GH therapy |
GHR Ko et al.17
|
175 patients with TS |
Korea |
The d3-GHR genotype was not associated with growth and weight (BMI) in TS patients undergoing GH therapy |
100 controls |
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GHR and VDR Alvarez-Nava et al.18
|
28 children with GHD |
Venezuela |
Polymorphisms, either individually or in combination, did not contribute to GH therapy response |
25 patients com TS |
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100 healthy adults |
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GHR Baş et al.19
|
218 patients with GHD |
Turkey |
Response to GH therapy does not depend on d3-GHR genotypes |
43 patients with TS |
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477 adult controls |
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GHR and IGFBP3 Braz et al.20
|
112 patients with TS |
Brazil |
Patients carrying at least one GHR-d3 allele or −202 A IGFBP3 had higher growth rate and became taller adults than those homozygous for GHR-fl or −202C IGFBP3, with the two latter ones being associated with less favorable growth results after rhGH treatment |
GHR, IGFBP3 and SOCS2 Braz et al.21
|
65 patients with TS 47 height patients with GHD |
Brazil |
Polymorphism SOCS2 alone (allele C) showed influence on adult height. SOCS2 – T, GHR-fl and −202C IGFBP3 in homozygous state were unfavorable genotypes for adult height |
VDR Peralta-López et al.22
|
65 women with TS 110 genotype healthy |
Argentina |
Polymorphisms BsmI and FokI, genotypes bb and ff respectively, were associated with lower BMD, whereas the polymorphic site ApaI was not. Osteocalcin and β-CrossLaps, markers of bone formation and resorption, respectively, were similar in patients with TS, regardless of the genotype |
VDR Peralta-López et al.23
|
55 patients with TS 59 control women |
Argentina |
Patients with the GG genotype of polymorphism Cdx2 showed higher levels of osteocalcin and β-CrossLaps, i.e., markers of bone formation and resorption, respectively |
ER-α Sowinska-Przepiera et al.24
|
32 patients with TS 82 therapy healthy control women |
Poland |
The recessive homozygous genotypes (xx and pp) of polymorphism XbaI and PvuII were considered good markers of bone mineralization in patients undergoing estroprogestagen therapy |
VDR Bianco et al.25
|
101 women with TS 133 healthy fertile women without history of autoimmune disease |
Brazil |
Individual analysis of the four polymorphisms (ApaI, TaqI, FokI and BsmI) and by haplotype showed no association with thyroid abnormalities and TS |
PTPN22 Bianco et al.26
|
142 women with TS 180 healthy and fertile women without history of autoimmune disease |
Brazil |
Genotype frequencies of polymorphism C1858T were statistically different in TS, suggesting that this SNP could be a major genetic risk factor that predisposes to autoimmune disease in Brazilian patients with TS |
AT2R Struwe et al.27
|
97 patients with Coa |
Germany |
A→G transition at position 1675 in intron 1 of AT2R gene is not associated with the pathogenesis of CoA and/or TS |
28 patients with TS |
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10 patients with CoA and TS |
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96 healthy children |
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MTHFR Santos et al.28
|
49 patients with TS 200 apparently healthy individuals |
Brazil |
Individuals with TS showed an increase in the frequency of homozygous genotype C677T, indicating possible risk factor for chromosomal non-disjunction as it decreases the activity of the MTHFR enzyme |
MTHFR Oliveira et al.29
|
140 patients with TS |
Brazil |
In patients with TS, the 1298CC genotype was more frequent and associated with increased risk of aneuploidy |
209 healthy fertile women with no children with chromosomal aneuploidy |
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MTHFR Oliveira et al.30
|
78 women with TS |
Brazil |
Polymorphism MTHFR A1298C (allele C) and the two haplotypes CC and TC of SNPs MTHFR, C677T and A1298C were also associated with TS |
372 healthy individuals without personal or family history of cardiovascular disease and cancer |
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EFHC2 Zinn et al.31
|
97 Caucasian patients with TS |
USA |
Polymorphism rs7055196 was not associated with fear |