Rationale: Obstructive sleep apnea is a common disorder associated with increased risk for cardiovascular disease, diabetes, and premature mortality. Although there is strong clinical and epidemiologic evidence supporting the importance of genetic factors in influencing obstructive sleep apnea, its genetic basis is still largely unknown. Prior genetic studies focused on traits defined using the apnea-hypopnea index, which contains limited information on potentially important genetically determined physiologic factors, such as propensity for hypoxemia and respiratory arousability.Objectives: To define novel obstructive sleep apnea genetic risk loci for obstructive sleep apnea, we conducted genome-wide association studies of quantitative traits in Hispanic/Latino Americans from three cohorts.Methods: Genome-wide data from as many as 12,558 participants in the Hispanic Community Health Study/Study of Latinos, MultiEthnic Study of Atherosclerosis, and Starr County Health Studies population-based cohorts were metaanalyzed for association with the apnea-hypopnea index, average oxygen saturation during sleep, and average respiratory event duration.Measurements and Main Results: Two novel loci were identified at genome-level significance (rs11691765, GPR83, P = 1.90 3 10 28 for the apnea-hypopnea index, and rs35424364; C6ORF183/CCDC162P, P = 4.88 3 10 28 for respiratory event duration) and seven additional loci were identified with suggestive significance (P , 5 3 10 27 ). Secondary sex-stratified analyses also identified one significant and several suggestive associations. Multiple loci overlapped genes with biologic plausibility.Conclusions: These are the first genome-level significant findings reported for obstructive sleep apnea-related physiologic traits in any population. These findings identify novel associations in inflammatory, hypoxia signaling, and sleep pathways.

Low levels of genetic variation at traditional molecular markers have hampered genetic research within the family Acipenseridae. In an effort to develop a large set of polymorphic genetic markers, 172 clones were sequenced from three subgenomic libraries of shovelnose sturgeon Scaphirhynchus platorynchus; the libraries were enriched for two dinucleotide and one tetranucleotide microsatellite motifs (CA, GA, and TAGA). Primers were designed for 113 of the sequences and tested against shovelnose sturgeon, pallid sturgeon S. albus, white sturgeon Acipenser transmontanus, lake sturgeon A. fulvescens, and green sturgeon A. medirostris. Of the 113 primer sets tested, 96% amplified in one or more species (58 dimeric and 50 tetrameric). In Scaphirhynchus species, 93% of all loci amplified, and 76% were polymorphic. Within the individual Acipenser species, 65–80% of loci amplified, with 42–58% being polymorphic. Polymorphic systems for Scaphirhynchus species predominately displayed simple, disomic banding patterns, while those for Acipenser species typically displayed banding patterns characteristic of tetraploid or higher polyploid levels. These new microsatellite loci provide a group of genetic markers that are detectable with noninvasive sampling and that should prove useful in the preservation of threatened and endangered sturgeon species worldwide.

To determine the genetic origin of individual sturgeon that are morphologically intermediate to pallid (Scaphirhynchus albus) and shovelnose (Scaphirhynchus platorhynchus) sturgeon, we combined previously published mitochondrial DNA (mtDNA) and microsatellite data with additional microsatellite data. Two sympatric populations of pallid and shovelnose sturgeon from the upper Missouri River and a sympatric population containing pallid, shovelnose, and putative pallid-shovelnose hybrids from the Atchafalaya River were analyzed using an index of hybridization and a principle components analysis of individual relatedness scores. The addition of new microsatellite data improved our ability to genetically differentiate individual pallid and shovelnose sturgeon collected in both areas. Our methods distinguished morphologically intermediate Atchafalaya River sturgeon, which appear to be genetically intermediate between pallid and shovelnose sturgeon. The results support a hybrid origin for morphologically intermediate individuals, although it is unclear whether they are all first-generation hybrids or if some are the result of subsequent backcrossing with the more common shovelnose sturgeon.

Only a few studies, primarily limited to small samples, have examined the relationship between leukocyte telomere length (LTL) data generated by Southern blots, expressed in kilobases, versus quantitative PCR data, expressed in the telomere product/a single gene product (T/S). In the present study, we compared LTL data generated by the two methods in 681 elderly participants (50% African Americans, 50% of European origin, 49.2% women, mean age 73.7±2.9 years) in the Health Aging and Body Composition Study. The correlation between the data generated by the two methods was modest (R (2) = .27). Both methods captured the age effect on LTL and the longer LTL in women than in men. However, only the Southern blot method showed a significantly longer LTL in African Americans than in European decent individuals, which might be attributed to the larger measurement error of the quantitative PCR-based method than the Southern blots.

Pallid sturgeon Scaphirhynchus albus and shovelnose sturgeon S. platorynchus are recognized morphologically as separate species. A previous genetic study with allozymes was unable to distinguish between the two species or demonstrate their reproductive isolation in regions of sympatry. Our main objective was to measure the genetic variability within and among populations of pallid and shovelnose sturgeon at the northern and southern extremes of their sympatric ranges to determine if genetic variation within the two species exhibits patterns consistent with reproductive isolation. Additionally, we examined a sample of individuals identified morphologically as hybrids of the two species to determine their genetic relationship to fish identified morphologically as pallid and shovelnose sturgeon. Data from five nuclear DNA microsatellite loci indicated that pallid and shovelnose sturgeon were genetically distinct at three sympatric localities. Pallid sturgeon from two northern populations in the upper Missouri River were genetically distinct from the southern Atchafalaya River population, suggesting that northern and southern populations are reproductively isolated. Shovelnose sturgeon from three populations were genetically indistinguishable and showed no population structure. Sturgeon identified morphologically as hybrids from the Atchafalaya River were genetically distinct from pallid sturgeon but were indistinguishable from shovelnose sturgeon. These latter results are the converse of companion results with mitochondrial DNA published elsewhere. Pallid sturgeon were federally listed as endangered in 1990, and information about their population structure and potential for introgression with shovelnose sturgeon is critical for management and recovery programs for pallid sturgeon.