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Genetics and Development
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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

You-Ji Li, Yong Du, Cai-Xia Li, Hui Guo, Joseph C.K. Leung, Man F. Lam, Niansheng Yang, Fengxian Huang, Yun Chen, Ji-Qian Fang, Patrick H. Maxwell, Kar N. Lai and Yiming Wang
JASN July 2004, 15 (7) 1739-1743; DOI: https://doi.org/10.1097/01.ASN.0000130858.00688.46
You-Ji Li
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Yong Du
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Cai-Xia Li
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Hui Guo
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Joseph C.K. Leung
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Man F. Lam
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Niansheng Yang
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Fengxian Huang
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Yun Chen
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Ji-Qian Fang
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Patrick H. Maxwell
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Kar N. Lai
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Yiming Wang
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Tables

  • 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 (%)χ2P
    CT
    IgAN (n = 423)70.729.3
    7.5460.006
    Control (n = 201)62.937.1
  • Table 3. Families assembled and entered into statistical analyses

    C2093TC2180T
    Complete trios genotyped155151
    Complete trios entered classical TDT127100
    Single parent families entered extended TDT8390
    Total families238241
  • Table 4. TDT analyses of Megsin C2093T alleles transmitted to patients

    Family NumberTransmitted AlleleObservedExpectedχ2P
    Classical TDT127C169155.54.4720.034
    T8598.5
    Extended TDT238C323306.544.5820.032
    T153169.46
  • Table 5. HRR analyses of C2093T and C2180T transmitted and nontransmitted alleles

    Trios Entered Classical TDTC2093TC2180T
    CTTotalCTTotal
    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.
    Transmitted169a8525455145b200
    Nontransmitted14211225489111200
  • Table 6. TDT analyses of Megsin C2180T alleles transmitted to patients

    Family NumberTransmitted AlleleObservedExpectedχ2P
    Classical TDT100C55729.32260.002
    T145128
    Extended TDT241C101126.4515.298<0.001
    T381355.55
  • Table 7. Families that entered into the extended TDT for co-transmission of alleles of C2093T and C2180Ta

    C2093T Trios + C2180T TriosC2093T SPF + C2180T SPFC2093T Trios + C2180T SPFC2093T SPF + C2180T TriosTotal
    a SPF, single parent family.
    125562526232
  • Table 8. TDT analysisa of C2093T–C2180T haplotypes

    Family NumberTransmitted HaplotypeObservedExpectedχ2P
    a Global χ2 test: χ2 = 13.431, P = 0.004.
    Extended TDT2322093C–2180C26.45730.3921.6500.199
    2093T–2180C83.54397.9255.9110.015
    2093C–2180T295.543268.90412.9240.0003
    2093T–2180T58.45766.7792.7850.095
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Journal of the American Society of Nephrology: 15 (7)
Journal of the American Society of Nephrology
Vol. 15, Issue 7
1 Jul 2004
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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
You-Ji Li, Yong Du, Cai-Xia Li, Hui Guo, Joseph C.K. Leung, Man F. Lam, Niansheng Yang, Fengxian Huang, Yun Chen, Ji-Qian Fang, Patrick H. Maxwell, Kar N. Lai, Yiming Wang
JASN Jul 2004, 15 (7) 1739-1743; DOI: 10.1097/01.ASN.0000130858.00688.46

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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
You-Ji Li, Yong Du, Cai-Xia Li, Hui Guo, Joseph C.K. Leung, Man F. Lam, Niansheng Yang, Fengxian Huang, Yun Chen, Ji-Qian Fang, Patrick H. Maxwell, Kar N. Lai, Yiming Wang
JASN Jul 2004, 15 (7) 1739-1743; DOI: 10.1097/01.ASN.0000130858.00688.46
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