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BMC Musculoskelet Disord. 2015 Aug 21;16:218. doi: 10.1186/s12891-015-0678-z.

Polymorphic variation of hypoxia inducible factor-1 A (HIF1A) gene might contribute to the development of knee osteoarthritis: a pilot study.

Author information

1
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. javier_astrofan@hotmail.com.
2
Escuela Superior de Medicina, Instituto Politécnico Nacional, Calle Salvador Díaz Mirón esq. Plan de San Luis, Col. Santo Tomás, 11340, México, D.F., Mexico. javier_astrofan@hotmail.com.
3
Musculoskeletal Ultrasound Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. cristy_hernandez@hotmail.com.
4
Rheumatology Service, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. rolespi@yahoo.com.
5
Cirugía Ortopédica, Centro Médico ABC, Av. Carlos Graef Fernández 154, Col. Tlaxala Santa Fe, Cuajimalpa, 05300, Mexico, D.F., Mexico. jvrcamacho@hotmail.com.
6
Departamento de Infectología e Inmunología Perinatal, Instituto Nacional de Perinatología "Isidro Espinosa de los Reyes", Secretaría de Salud, Calle Montes Urales 800, Col. Lomas Virreyes, Miguel Hidalgo, 11000, México, D.F., Mexico. ngalindosevilla@hotmail.com.
7
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. lopez_macay@hotmail.com.
8
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. yesszamudio@gmail.com.
9
Escuela Nacional de Ciencias Biológicas (ENCB), Instituto Politécnico Nacional, Prolongación de Carpio y Plan de Ayala S/N, Col. Casco de Santo Tomás, Miguel Hidalgo, 11340, México, D.F., Mexico. yesszamudio@gmail.com.
10
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. karinabiologist@hotmail.com.
11
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. mgso82@hotmail.com.
12
Musculoskeletal Ultrasound Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. carpineda@yahoo.com.
13
Immunogenetics Division, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán" (INCMNSZ), Secretaría de Salud, Vasco de Quiroga 15, Col. Sección XVI, Tlalpan, 14000, Mexico, D.F., Mexico. julgrate@yahoo.com.
14
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. ameria.justice@gmail.com.
15
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. dr.gmarwin@gmail.com.
16
Synovioanalysis Molecular Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra", Secretaría de Salud, Calzada Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Tlalpan, 14389, Mexico, D.F., Mexico. allorey@yahoo.com.

Abstract

BACKGROUND:

Osteoarthritis (OA) is a multifactorial degenerative condition of the whole joint with a complex pathogenesis whose development and progression is significantly mediated by interactions between the joint cartilage and articular tissues, particularly, proinflammatory mediators and oxidative stress, which results in cartilage deterioration and subchondral bone destruction. HIF-1 alpha regulates oxygen homeostasis in hypoxic tissues such as joint cartilage; efficiency of transcriptional activity of the HIF1A gene is strongly influenced by the presence of polymorphic variants. Given the loss of articular cartilage and with intention to restore damaged tissue, WISP-1 participates in the development of subchondral bone; further, its expression is highly increased in chondrocytes of OA patients. The aim of this study was to evaluate gene frequencies of HIF1A and WISP1 polymorphisms in Mexican patients suffering from knee OA.

METHODS:

We determined HIF1A rs11549465 (P582S), rs11549467 (A588T), and rs2057482 (C191T), and WISP1 rs2929970 (A2364G) polymorphisms in 70 Mexican patients with knee OA and compare them to those present in 66 ethnically matched healthy controls. Genotyping for these polymorphisms was performed by Real-Time PCR using TaqMan probes.

RESULTS:

Gene frequencies exhibited a significant increase of the CC genotype of rs11549465 polymorphism in knee OA patients as compared with those present in controls (P = 0.003 OR = 5.7, 95% CI = 1.7-21.6); CT genotype and T allele showed decreased frequency in the knee OA group vs. the controls (P = 0.003 OR = 0.2, CI = 0.05-0.6; and P = 0.004 OR = 0.2, CI = 0.05-0.65, respectively). Allele frequencies of the other polymorphic variants were similar in both patients and controls.

CONCLUSIONS:

These results suggest that the presence of the rs11549465 SNP (HIF1A) plays a role protective in the loss of articular cartilage in our population, and offers the possibility to further study the molecular mechanisms within cartilage and subchondral bone.

PMID:
26293784
PMCID:
PMC4546180
DOI:
10.1186/s12891-015-0678-z
[Indexed for MEDLINE]
Free PMC Article

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