Table 2. Genome-wide significant association peaks among Tibetan women.
“nSNPs” shows the number of genome-wide significant SNPs in each peak. “Top SNP” provides the rsID of the most significant SNP with effect / non-effect alleles. We chose the Tibetan minor allele as the effect allele. “Pos” is the genomic position of the top SNP in hg19 coordinates. Per allele effect size is provided in the β column. Continuously married (CM) subset phenotypes show the GWAS results restricted to about 60% of participants who stayed in marital relationship between age 25 and 40 (see Materials & methods).
| Pheno | CHR | nSNPs | Top SNP | Pos | Minor allele frequencya | βb | P | PBS | Gene |
|---|---|---|---|---|---|---|---|---|---|
| oxyHb | 2 | 8 | rs372272284 (A/G) |
46,584,859 | 0.248 | 0.386 | 5.71×10−9 | 1.05 |
EPAS1 (genic) |
| # of pregnancies | 2 | 2 | rs6711319 (G/A) |
179,717,217 | 0.248 | -0.760 | 2.10×10−8 | 0.00 |
CCDC141 (genic) |
| # of live births | 2 | 2 | rs6711319 (G/A) |
179,717,217 | 0.248 | -0.773 | 2.89×10−9 | 0.00 |
CCDC141 (genic) |
| # of stillbirths (CM) | 14 | 14 | rs1957819 (T/C) |
97,131,992 | 0.083 | 0.284 | 8.38×10−9 | -0.01 |
PAPOLA (99 kb) |
| Proportion of children born alive who died < 15 yr | 6 | 8 | rs9392394 (G/A) |
2,522,000 | 0.442 | -0.318 | 1.05×10−8 | 0.00 |
C6orf195 (101 kb) |
| Proportion of children born alive who died < 15 yr (CM) | 10 | 29 | rs1459385 (T/C) |
127,037,417 | 0.089 | 0.704 | 1.59×10−8 | 0.02 |
CTBP2 (188 kb) |
a Minor allele frequency in our Tibetan data set
b Per minor allele effect size estimates are in the unit of g/dL (oxyHb), the number of children (the numbers of pregnancies, live births and stillbirths), or residuals in log-odds scale for fertility proportion phenotypes (proportion of children born alive who died < 15 yr)