Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m

Cynthia M. Beall, Kijoung Song, Robert C. Elston, and Melvyn C. Goldstein
PNAS September 28, 2004 101 (39) 14300-14304; https://doi.org/10.1073/pnas.0405949101

  1. Contributed by Cynthia M. Beall, August 13, 2004

Article Figures & SI

Tables

  • Table 1. Description of pedigree data from 14 villages in the Tibet Autonomous Region
    No. of generations No. of pedigrees Pairs Count Individuals Count
    2 97 Parent/Off 1,949 Male 1,382
    3 92 Sib/Sib 2,330 Female 1,579
    4 111 Sis/Sis 627 Unknown 0
    5 24 Bro/Bro 553 Total 2,961
    6 4 Bro/Sis 1,150
    Grandp. 580 Founder 128
    Avunc. 2,528 Nonfounder 2,833
    Half sib 93 Singletons 0
    Cousin 2,943 Total 2,961

    • Off, offspring; Sib, sibling; Bro, brother; Sis, sister; Grandp., grandparent; Avunc., avuncular.

  • Table 2. Regression coefficients of the final model used to adjust oxygen saturation levels (n = 2,961)
    Variable df Parameter estimate Standard error t value Pr >|t|
    Intercept 1 101.049 1.941
    Group* 1 -0.145 0.206 -0.70 0.4824
    Sex† 1 -0.390 0.162 -2.40 0.0163
    Age 1 0.005 0.005 1.05 0.2952
    Smoker‡ 1 0.799 0.308 2.59 0.0095
    Altitude 1 -0.005 0.0005 -9.32 <.0001
    Cough§ 1 -0.345 0.288 -1.20 0.2308
    Phlegm 1 -2.637 4.059 -0.65 0.5158
    Sex × cough 1 -0.743 0.393 -1.89 0.0591
    Smoker × cough 1 1.755 0.733 2.39 0.0167
    Age × phlegm 1 -0.041 0.009 -4.47 <.0001
    Altitude × phlegm 1 0.001 0.001 0.90 0.3659

    • ↵ * 0 = No self-reported respiratory symptoms; 1 = reported symptoms.

    • ↵ † 0 = Female; 1 = male.

    • ↵ ‡ 0 = Nonsmoker; 1 = smoker.

    • ↵ § 0 = No; 1 = yes.

    • ↵ 0 = No; 1 = yes.

  • Table 3. Parameter estimates from segregation analysis of oxygen saturation levels
    General model
    		Environmental
    		Mixed Mendelian
    Parameters Parameter estimate SE Parameter estimate SE Parameter estimate SE
    q A 0.2226 0.0261 0.1989 0.0246 0.2178 0.0240
    τAA 0.8120 0.2004 0.8011 0.0246 (1) 0.0
    τAB 0.4127 0.0426 0.8011 0.0246 (0.5) 0.0
    τBB 0.9834 0.0189 0.8011 0.0246 (0) 0.0
    μAA 79.7886 1.1102 79.4634 1.2173 79.4675 1.0869
    μBB = μAB 89.3714 0.0902 89.3269 0.0875 89.3568 0.0857
    σ2 9.5674 0.3798 9.8941 0.4122 9.6587 0.3722
    ρFM 0.1298 0.0750 0.1248 0.0715 0.1272 0.0721
    ρPO 0.1240 0.0260 0.1195 0.0250 0.1172 0.0248
    ρSS 0.1947 0.0355 0.2192 0.0358 0.1937 0.0346
    λ1 5.4692 0.4799 5.5930 0.5159 5.5223 0.4897
    -2InL 15,260.8 15,277.1 15,268.2
    Par* 11 8 8
    χ2 16.3 7.4
    P value <0.0001 0.0602

    • Numbers in parentheses are fixed.

    • ↵ * Number of functionally independent parameters estimated.

  • Table 4. Major locus mode of inheritance of oxygen saturation levels
    Mendelian model
    Parameters Codominant parameter estimate SE B dominant parameter estimate SE
    q A 0.2183 0.0244 0.2178 0.0240
    τAA (1) 0.0 (1) 0.0
    τAB (0.5) 0.0 (0.5) 0.0
    τBB (0) 0.0 (0) 0.0
    μAA 79.6633 1.0918 79.4675 1.0869
    μAB 89.7486 0.3974 89.3568 0.0857
    μBB 89.1395 0.2371 89.3568 0.0857
    σ2 9.6077 0.3968 9.6587 0.3722
    ρFM 0.1305 0.0753 0.1272 0.0721
    ρPO 0.1237 0.0256 0.1172 0.0248
    ρSS 0.1976 0.0351 0.1937 0.0346
    λ1 5.6037 0.5078 5.5223 0.4897
    -2InL 15,267.3 15,268.2
    Par* 9 8
    χ2 0.9
    P value 0.3428

    • Numbers in parentheses are fixed.

    • ↵ * Number of functionally independent parameters estimated.

  • Table 5. Comparison of maximum likelihood estimates of the major gene parameters for oxygen saturation obtained in the present study with those previously published
    Three counties, TAR* Pen-Dri, TAR† Phala, TAR‡
    Altitude range, m 3,800-4,200 3,800-4,065 4,850-5,450
    q A 0.2178 ± 0.024 0.258 ± 0.1193 0.446 ± 0.095
    μAA 79.5 ± 1.1 82.6 ± 1.8 78.1 ± 1.0
    μAB - 87.6 ± 1.3 -
    μBB (=μAB) 89.4 ± 0.1 88.3 ± 0.7 84.0 ± 0.5
    Proportion of phenotypic variance due to major locus, % 46 21 39

    • A, low saturation allele; TAR, Tibet Autonomous Region.

    • ↵ * Present study.

    • ↵ † Ref. 2.

    • ↵ ‡ Ref. 1.

  • Table 6. Estimates of fertility measures for three oxygen saturation genotypes
    Variable Mean ± SD [minimum, maximum, n] Genotypic mean AA Genotypic mean AB Genotypic mean BB Multiple regression R2 Multiple regression P to test Ho: AA = AB/BB Permutation P to test Ho: AA = AB/BB
    Number of pregnancies 4.62 ± 2.79 [1,15 n = 689] 4.59 4.90 4.77 0.96* , † , ‡ , § 0.828 0.826
    Number of live births 4.49 ± 2.72 [0,15, n = 685] 4.45 4.76 4.62 0.96* , † , ‡ , § 0.820 0.823
    Number of children now alive 4.09 ± 2.33 [0, 13, n = 664] 1.64 3.58 3.79 0.95* , † , , ∥ , ** 0.046 0.039
    Number of children who died 0.54 ± 0.10 [0,8, n = 664] 2.53 0.77 0.48 0.38† , ‡ , § , ** 0.007 0.009
    Number of infant deaths 0.36 ± 0.74 [0.7 n = 681] 1.69 0.62 0.32 0.28† , 0.011 0.014
    Proportion of livebirths now alive 0.90 ± 0.17 [0,1, n = 664] 0.40 0.88 0.91 0.97** , †† 0.004 0.006
    Proportion of livebirths that died during infancy 0.07 ± 0.15 [0,1, n = 654] 0.40 0.10 0.06 0.20** 0.015 0.023
    Proportion of livebirths that died between 1 and 15 years of age 0.02 ± 0.07 [0,0.5, n = 653] 0.01 0.01 0.02 0.08†† 0.763 0.755
    Proportion of livebirths that died before 15 years of age 0.09 ± 0.16 [0,1, n = 653] 0.43 0.11 0.08 0.26** , †† 0.036 0.042

    • ↵ * Age at first pregnancy.

    • ↵ † Age at first birth.

    • ↵ ‡ Age at last pregnancy.

    • ↵ § Altitude.

    • ↵ Age at last birth.

    • ↵ ∥ Marital type.

    • ↵ ** Currently using family planning.

    • ↵ †† Maternal age.

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Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m
Cynthia M. Beall, Kijoung Song, Robert C. Elston, Melvyn C. Goldstein
Proceedings of the National Academy of Sciences Sep 2004, 101 (39) 14300-14304; DOI: 10.1073/pnas.0405949101
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