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Table 1. Clinical data of the patients at time of renal biopsya
a Values expressed as mean ± SD or number. Scr, serum creatinine; CHOL, cholesterol; TG, triglyceride. Gender (F/M) 228/195 Age (yr) 30.1 ± 9.9 Duration of disease (mo) 20.6 ± 34.3 Systolic BP (mmHg) 122.4 ± 43.7 Diastolic BP (mmHg) 78.8 ± 41.8 Proteinuria (g/d) 0.99 ± 1.79 Scr (μmol/L) 109 ± 124.0 Serum CHOL (mmol/L) 5.47 ± 2.29 Serum TG (mmol/L) 1.43 ± 0.96 Table 2. Allele frequencies (%) of C2093T in patients and control subjects
Allele (%) χ2 P C T IgAN (n = 423) 70.7 29.3 7.546 0.006 Control (n = 201) 62.9 37.1 Table 3. Families assembled and entered into statistical analyses
C2093T C2180T Complete trios genotyped 155 151 Complete trios entered classical TDT 127 100 Single parent families entered extended TDT 83 90 Total families 238 241 Table 4. TDT analyses of Megsin C2093T alleles transmitted to patients
Family Number Transmitted Allele Observed Expected χ2 P Classical TDT 127 C 169 155.5 4.472 0.034 T 85 98.5 Extended TDT 238 C 323 306.54 4.582 0.032 T 153 169.46 Table 5. HRR analyses of C2093T and C2180T transmitted and nontransmitted alleles
Trios Entered Classical TDT C2093T C2180T C T Total C T Total a Haplotype-based HRR χ2 = 6.045, P = 0.014, HRR = 1.568. b Haplotype-based HRR χ2 = 12.543, P < 0.001, HRR = 2.114. Transmitted 169a 85 254 55 145b 200 Nontransmitted 142 112 254 89 111 200 Table 6. TDT analyses of Megsin C2180T alleles transmitted to patients
Family Number Transmitted Allele Observed Expected χ2 P Classical TDT 100 C 55 72 9.3226 0.002 T 145 128 Extended TDT 241 C 101 126.45 15.298 <0.001 T 381 355.55 Table 7. Families that entered into the extended TDT for co-transmission of alleles of C2093T and C2180Ta
C2093T Trios + C2180T Trios C2093T SPF + C2180T SPF C2093T Trios + C2180T SPF C2093T SPF + C2180T Trios Total a SPF, single parent family. 125 56 25 26 232 Table 8. TDT analysisa of C2093T–C2180T haplotypes
Family Number Transmitted Haplotype Observed Expected χ2 P a Global χ2 test: χ2 = 13.431, P = 0.004. Extended TDT 232 2093C–2180C 26.457 30.392 1.650 0.199 2093T–2180C 83.543 97.925 5.911 0.015 2093C–2180T 295.543 268.904 12.924 0.0003 2093T–2180T 58.457 66.779 2.785 0.095
Family-Based Association Study Showing that Immunoglobulin A Nephropathy Is Associated with the Polymorphisms 2093C and 2180T in the 3′ Untranslated Region of the Megsin Gene
