TABLE II.
Lung collectin genetic polymorphisms and association with disease
| Polymorphism | Clinical association | References | |||
|---|---|---|---|---|---|
| SP-A1 allele | Val19Ala | Val50Leu | Arg219Trp | ||
| 6A | Ala | Leu | Arg | ||
| 6A2 | Val | Val | Arg | Lower incidence of otitis media in childhood |
Ramet et al, 200163 |
| Increased risk of RDS in preterm infants |
Haataja et al, 2002253 | ||||
| 6A3 | Val | Leu | Arg | Reduced risk of RDS in preterm infants |
Haataja et al, 2002253 |
| 6A4 | Val | Leu | Trp | Increased incidence of otitis media in childhood |
Ramet et al, 200163 |
| Increased susceptibility to tuberculosis |
Haataja et al, 2002253 | ||||
| Increased levels in patients with idiopathic pulmonary fibrosis |
Selman et al, 2003259 | ||||
| SP-A2 allele | Asn9Thr | Ala91Pro | Gln223Lys | ||
| 1A | Thr | Pro | Gln | Increased incidence of ABPA |
Saxena et al, 2003174 |
| Increased susceptibility to tuberculosis |
Madan et al, 2002258 | ||||
| Reduced severity of RSV infection in infants |
Lofgren et al, 2002256 | ||||
| 1A0 | Asn | Ala | Gln | Reduced risk of otitis media in childhood |
Ramet et al, 200163 |
| Increased risk or RDS in preterm infants |
Haataja et al, 2002253 | ||||
| 1A1 | Thr | Ala | Lys | Increased severity of RSV infection in infants |
Lofgren et al, 2002256 |
| Increased susceptibility to N meningitides |
Jack et al, 2006257 | ||||
| 1A2 | Thr | Ala | Gln | ||
| 1A3 | Asn | Ala | Lys | Increased susceptibility to tuberculosis |
Haataja et al, 2002253 |
| Increased severity of RSV infection |
Haataja et al, 2002253 | ||||
|
SP-D single nucleotide polymorphism |
Met11Thr | ||||
| Met | Higher SP-D levels | Leth-Larsen et al, 2005261 | |||
| Increased incidence of RSV infection |
Lahti et al, 2002260 | ||||
| Increased incidence of allergic sensitization |
Brandt et al, 2008235 | ||||
| Thr | Lower SP-D levels; monomers only |
Leth-Larsen et al, 2005261 | |||
| Lower incidence of RSV infection |
Lahti et al, 2002260 | ||||
| Increased susceptibility to tuberculosis |
Floros et al, 2000262 | ||||
| Decreased incidence of allergic sensitization |
Brandt et al, 2008235 |
RDS, Respiratory distress syndrome.