GHR Binder et al.1515 Binder G, Baur F, Schweizer R, Ranke MB. The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. J Clin Endocrinol Metab. 2006;91:659-64.
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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.1616 Binder G, Trebar B, Baur F, Schweizer R, Ranke MB. Homozygosity of the d3-growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome. Clin Endocrinol (Oxf). 2008;68:567-72.
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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.1717 Ko JM, Kim JM, Cheon CK, Kim DH, Lee DY, Cheong WY, et al. The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. Clin Endocrinol (Oxf). 2010;72:196-202.
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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.1818 Alvarez-Nava F, Marcano H, Pardo T, Paoli M, Gunczler P, Soto M, et al. GHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and Turner syndrome patients. J Pediatr Endocrinol Metab. 2010;23:773-82.
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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.1919 Baş F, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Sıklar Z, et al. The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study. Horm Res Paediatr. 2012;77:85-93.
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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.2020 Braz AF, Costalonga EF, Montenegro LR, Trarbach EB, Antonini SR, Malaquias AC, et al. The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome. J Clin Endocrinol Metab. 2012;97:E671-7.
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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.2121 Braz AF, Costalonga EF, Trarbach EB, Scalco RC, Malaquias AC, Guerra-Junior G, et al. Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism. J Clin Endocrinol Metab. 2014;99:E1808-13.
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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.2222 Peralta López M, Miras M, Silvano L, Pérez A, Muñoz L, Centeno V, et al. Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome. J Pediatr Endocrinol Metab. 2011;24:307-12.
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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.2323 Peralta López M, Centeno V, Miras M, Silvano L, Pérez A, Muñoz L, et al. Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients. J Pediatr Endocrinol Metab. 2012;25:669-71.
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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.2424 Sowińska-Przepiera E, Andrysiak-Mamos E, Chełstowski K, Adler G, Friebe Z, Syrenicz A. Association between ER-α polymorphisms and bone mineral density in patients with Turner syndrome subjected to estroprogestagen treatment – a pilot study. J Bone Miner Metab. 2011;29:484-92.
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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.2525 Bianco B, Verreschi IT, Oliveira KC, Guedes AD, Barbosa CP, Lipay MV. Analysis of vitamin D receptor gene (VDR) polymorphisms in Turner syndrome patients. Gynecol Endocrinol. 2012;28:326-9.
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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.2626 Bianco B, Verreschi IT, Oliveira KC, Guedes AD, Galera BB, Galera MF, et al. PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome. Scand J Immunol. 2010;72:256-9.
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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.2727 Struwe E, Krammer K, Dötsch J, Metzler M, Dörr HG, Cesnjevar R, et al. No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich-Turner syndrome. Pediatr Cardiol. 2006;27:636-9.
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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.2828 Santos K, Lemos-Marini SH, Baptista MT, Bonadia LC, Pinto Júnior W, Bertuzzo CS. Frequency of 677C → T and 1298A → C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals. Genet Mol Biol. 2006;29:41-4.
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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.2929 Oliveira KC, Bianco B, Verreschi IT, Guedes AD, Galera BB, Galera MF, et al. Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients. Arq Bras Endocrinol Metabol. 2008;52:1374-81.
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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.3030 Oliveira KC, Verreschi IT, Sugawara EK, Silva VC, Galera BB, Galera MF, et al. C677T and A1298C polymorphisms of MTHFR gene and their relation to homocysteine levels in Turner syndrome. Genet Test Mol Biomarkers. 2012;16:396-400.
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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.3131 Zinn AR, Kushner H, Ross JL. EFHC2 SNP rs7055196 is not associated with fear recognition in 45, X Turner syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:507-9.
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97 Caucasian patients with TS |
USA |
Polymorphism rs7055196 was not associated with fear |