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Arch Med Res. 2018 Jan;49(1):18-26. doi: 10.1016/j.arcmed.2018.04.010. Epub 2018 Apr 24.

Influence of SNPs in Genes that Modulate Lung Disease Severity in a Group of Mexican Patients with Cystic Fibrosis.

Author information

1
Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México.
2
Subdirección de Medicina Experimental, Instituto Nacional de Pediatría, Ciudad de México, México. Electronic address: mdoloreschs@gmail.com.
3
Laboratorio de Inmunogenómica y Enfermedades Metabólicas, Instituto Nacional de Medicina Genómica, Ciudad de México, México.
4
Servicio de Neumología, Instituto Nacional de Pediatría, Ciudad de México, México.
5
Laboratorio de Fisiología Pulmonar, Hospital Infantil de México Federico Gómez, Ciudad de México, México; Asociación Mexicana de Fibrosis Quística A.C., Ciudad de México, México.
6
Subdirección de Medicina Experimental, Instituto Nacional de Pediatría, Ciudad de México, México.

Abstract

BACKGROUND:

The variation in cystic fibrosis (CF) lung disease not always is explained by the CFTR genotype, so it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of CF, so we investigated the association of allelic variants in modifier genes that modulate the severity of lung function in a group of Mexican patients diagnosed with CF.

METHODS:

We included 140 CF patients classified according to lung phenotype and analyzed 17 single nucleotide polymorphisms (SNPs) by TaqMan® allelic discrimination.

RESULTS:

We demonstrated that patients with GG or GC genotype of the allelic variant rs11003125 (MBL2-550) of the MBL2 gene exhibit most of the lung manifestations at an earlier age; and the rs1042713 allelic variant of ADRB2 gene, showed statistical difference only with the age of first spirometry. When we used the dominant model, the MBL2 allele rs11003125 (MBL2-550; p = 0.022, Odds Ratio (OR) 2.87, 95% CI 1.14-7.27) was significantly associated with CF patients as risk factor, and the ADRB2 allele rs1042713 (p.Arg16Gly; p = 0.005, Odds Ratio (OR) 0.37, 95% CI 0.19-0.75) was significantly associated with CF patients as protect factor.

CONCLUSIONS:

Our findings suggest that the MBL2 and ADRB2 genes exerts an important genetic influence on the lung disease in our patients. Taking into account our results, we insist on not leaving aside this type of studies, since having techniques such as GWAS or WES will be able to advance in achieving a better quality of life for CF patients with severe lung disease.

KEYWORDS:

Cystic fibrosis; Gene modifiers; Lung disease; Mexican patients

PMID:
29703608
DOI:
10.1016/j.arcmed.2018.04.010
[Indexed for MEDLINE]

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