Table 1. Minor allele frequencies of CD40LG SNPs in the French (n = 211) and Tunisian population (n = 274) identified by DHPLC.
| Minor Allele Frequency (MAF) | Statistic | |||||||
|---|---|---|---|---|---|---|---|---|
| SNP | Marker ID | Position Chr X (Location) | Allele | French population | Tunisian Population | χ2 | p value | PCR Fragment |
| 1 | c.-3525_-3526insCAAACAAAa | 135726882 (5' UTR) | (CAAA)8 | 0.003 | 0.003 | 0.017 | 1b | CD40LG-5'UTR |
| 2 | rs201992677 [-/CAAA] | 135726882 (5' UTR) | (CAAA)7 | 0.175 | 0.364 | 28.141 | <0.0001 | CD40LG-5'UTR |
| 3 | rs3092952 A>G | 135726950 (5'UTR) | G | 0.175 | 0.354 | 25.040 | <0.0001 | CD40LG-5'UTR |
| 4 | rs1126535 T>C | 135730555 (exon 1) | C | 0.154 | 0.224 | 4.998 | 0.027 | CD40LG-E1 |
| 5 | rs147739883 C>T | 135732387 (IVS 1) | T | 0 | 0.003 | 0.828 | 1b | CD40LG-E2 |
| 6 | c.8140A>Ga | 135738547 (exon 4) | G | 0 | 0.003 | 0.828 | 1b | CD40LG-E4 |
| 7 | rs3092923 T>C | 135741185 (IVS 4) | C | 0.116 | 0.326 | 39.424 | <0.0001 | CD40LG-E5A |
| 8 | rs148594123 G>A | 135741443 (exon 5) | A | 0.027 | 0 | 9.793 | 0.0002b | CD40LG-E5B |
| 9 | rs3092921 C>T | 135743000 (3'UTR) | T | 0.113 | 0.314 | 37.392 | <0.0001 | CD40LG-3'UTRB |
| 10 | c.*2367C>Ga | 135743941 (3'UTR) | G | 0 | 0.003 | 0.828 | 1b | CD40LG-3'UTRC |
| 11 | rs3092920 G>T | 135743991 (3'UTR) | T | 0.103 | 0.286 | 33.203 | <0.0001 | CD40LG-3'UTRC |
aNovel mutations identified in this study.
bFisher Exact Test (n<5).
Alleles are denoted as ancestral/derived and are referred to by their dbSNP ID. Polymorphisms in boldface were included in the LD and haplotype analysis.