It’s been a busy month for the genetics community, and Golden Helix customers are no exception. First in the line up, congrats to Marta Artieda with Progenika Biopharma in Spain for her work on “Association of the Intergenic Single-Nucleotide Polymorphism rs10865331 (2p15) with Ankylosing Spondylitis in a Spanish Population” in the Journal of Rheumatology (abstract below).

Next up, kudos to our friends over in Sogang University in Korea for their study on aspirin and asthma recently featured in Journal of Asthma, “Putative association of SMAPIL polymorphisms with risk of aspirin intolerance in asthmatics” (abstract below).

Also recently published “A possible association of the norepinephrine transporter gene in the development of heroin dependence in Han Chinese” in Pharmacogenetics and Genomics by Yi-Weh Yeh in the Department of Psychiatry at Tri-Service General Hospital in China (abstract below).

Finally, shout out to the Oklahoma Medical Research Foundation for their work internationally on an article published in Arthritis & Rheumatism: “Genetically determined amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus” (abstract below).

Congratulations to all!

Association of the Intergenic Single-Nucleotide Polymorphism rs10865331 (2p15) with Ankylosing Spondylitis in a Spanish Population, Journal of Rheumatology, Sanchez, A et. al.
Objective: A recent genome-wide association study has identified 2 single-nucleotide polymorphisms (SNP) associated with ankylosing spondylitis (AS), rs10865331 (2p15) and rs2242944 (21q22). We assessed the association of these SNP with AS in a Spanish population.
Methods: Four hundred fifty-six patients with AS fulfilling the modified New York Criteria and 300 healthy donors were analyzed.
Results: SNP rs10865331 (allele A: p = 0.039; genotype: p = 0.016) was significantly associated with AS, while no association was found for rs2242944.
Conclusion: This is the first study that replicates in an independent cohort the association of the intergenic SNP rs10865331 with susceptibility to AS. Access this article

Putative association of SMAPIL polymorphisms with risk of aspirin intolerance in asthmatics, Journal of Asthma, Kim, J et. al.
Aspirin-intolerant asthma (AIA), as a clinical syndrome caused by aspirin, is characterized by lung inflammation and reversible bronchoconstriction. Recently, the altered trafficking and diminished airway reactivity have been implicated in allergic airway remodeling. The stromal membrane-associated protein 1-like (SMAP1L) exerts common and distinct functions in vesicle trafficking including endocytosis. The disturbance of pulmonary surfactant synthesis has been elucidated to be associated with asthma experimentally. Moreover, in alveolar type II (ATII) cells that synthesize pulmonary surfactant, alterations of clathrin-dependent endocytosis cause disturbance at the surfactant function, suggesting that SMAP1L, which directly interacts with clathrin, could be associated with asthma and related phenotypes. Objective. To verify our hypothesis that SMAP1L could play a role in the development of AIA, this study investigated associations between single-nucleotide polymorphisms (SNPs) of the SMAP1L gene and AIA. Methods. We conducted an association study between 19 SNPs of the SMAP1L gene and AIA in a total of 592 Korean subjects including 163 AIA and 429 aspirin-tolerant asthma (ATA) patients. Associations between polymorphisms of SMAP1L and AIA were analyzed with sex, smoking status, atopy, and body mass index as covariates. Results. Logistic analyses revealed that three common polymorphisms, rs2982510, rs2294752, and rs446738, were putatively associated with the increased susceptibility to AIA (p = .003, pcorr = .004, OR = 0.24, 95% CI = 0.09–0.62 for rs2982510 and rs2294752; p = .008, pcorr = .03, OR = 0.44, 95% CI = 0.24–0.80 for rs446738, in the recessive model). In addition, rs2982510 and rs2294752 were significantly associated with the fall of forced expiratory volume in 1 s (FEV1) by aspirin provocation (p = .001, pcorr = .04 in the recessive model for both SNPs). Conclusions. Our findings suggest that SMAP1L might be a susceptible gene to AIA, providing a new strategy for the control of aspirin intolerance. Access the article

A possible association of the norepinephrine transporter gene in the development of heroin dependence in Han Chinese, Pharmacogenetics and Genomics, Yeh, Y et. al.
Objective: Noradrenergic pathways have been suggested to play a crucial role in the motivation-reward system of heroin dependence (HD), but so far, the role of the human norepinephrine transporter (NET; SLC6A2) gene in the pathogenesis of HD has never been investigated. The purpose of this study was to examine whether the NET gene is associated with the development of HD, and whether the NET gene influences specific personality traits.
Methods: Twelve single-nucleotide polymorphisms of the NET gene were analyzed in a case-control study of 965 Han Chinese participants (603 patients and 362 controls). All participants were screened using a Chinese version of the modified Schedule of Affective Disorder and Schizophrenia-Lifetime and all patients met the criteria for HD. A Chinese version of the Tridimensional Personality Questionnaire was used to assess personality traits and examine the association between specific personality traits and NET polymorphisms.
Results: No statistically significant differences in allele or genotype frequencies were observed in any of the investigated NET variants between HD patients and controls. After logistic regression analyses, no statistically significant effect of NET variants in the development of HD was found. In haplotype analysis, the frequency of AATA haplotype in rs1532701-rs40434-rs13333066-rs187714 was significantly different between HD patients and controls. These NET polymorphisms did not influence novelty seeking and harm avoidance scores.
Conclusion: This study suggests that the NET gene may be associated with the development of HD, but not associated with specific personality traits among Han Chinese. Access the article

Genetically determined amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus, Arthritis & Rheumatism, Sachez, E et. al.
Objectives: To analyze if genetically determined Amerindian ancestry predicts the increased presence of risk alleles of known susceptibility genes for systemic lupus erythematosus.
Methods: Single nucleotide polymorphisms within 16 confirmed genetic susceptibility loci for SLE were genotyped in a set of 804 Mestizo lupus patients and 667 Mestizo normal healthy controls. In addition, 347 admixture informative markers were genotyped. Individual ancestry proportions were determined using STRUCTURE.
Results: A meta-analysis of the genetic association of the 16 SNPs across populations showed that TNFSF4, STAT4, ITGAM, and IRF5 were associated with lupus in a Hispanic-Mestizo cohort enriched for European and Amerindian ancestry. In addition,two SNPs within the MHC region, previously associated in a genome-wide association study in Europeans, were also associated in Mestizos. Using linear regression we predict an average increase of 2.34 risk alleles when comparing a lupus patient with 100% Amerindian ancestry to an SLE patient with 0% American Indian Ancestry (p<0.0001). SLE patients with 43% more Amerindian ancestry are predicted to carry one additional risk allele.
Conclusion: Amerindian ancestry increased the number of risk alleles for lupus. Access this article