Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population.

BACKGROUND

There is known to be significant genetic involvement in persistent pulmonary hypertension of the newborn (PPHN), but to date there is not a clear understanding of this situation, and clarifying that involvement would be of considerable assistance in devising effective treatments for the disease. This case-control study was undertaken to search for genetic variants associated with PPHN in the Thai population using a genome-wide association study (GWAS).

METHODS

A 659,184 single nucleotide polymorphisms from 387 participants (54 PPHN cases and 333 healthy participants) were genotyped across the human genome using an Illumina Asian Screening Array-24 v1.0 BeadChip Array. After quality control, we obtained 443,063 autosomal SNPs for the GWAS analysis. The FaST-LMM and R packages were used for all statistical analyses.

RESULTS

For the case-control analysis, the genomic inflation factor (λ) was 1.016, rs149768622 T>C in the first intron of gene showed the strongest association with a P value of 3.76E-08 and odds ratio (OR) of 13.24 (95% CI: 3.91-44.78). The variants at the /, , , , , , , , , and loci showed suggestive evidence of associations with PPHN (P<1E-05).

CONCLUSIONS

This GWAS found that rs149768622 T>C in the gene was possibly associated with PPHN. However, replication and functional studies are needed to validate this association and further explore the role(s) of the gene in PPHN.