Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.

Our analysis in a limited number of subjects revealed a highly significant increase in the “C” (χ 2 = 4.86, p value = 0.027, Power = 82.5%) allele [with a high odds ratio (OR = 2.03, CI = 1.08–3.81)] and “CC” genotype (χ 2 = 10.7, p value = 0.005, Power = 97.74%) in probands with DS having MH as compared to the controls.

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Analysis of subjects sorted on the basis of gender failed to reveal any significant difference for male probands while female probands showed a trend toward increase in the “C” allele and “CC” genotype (Table 3 ).

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