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- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 2. |
- Stolk, Lisette, et al.
(författare)
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Tidskriftsartikel (refereegranskat)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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| 5. |
- Nekoo, Elham Azimi, et al.
(författare)
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Psychometric properties of the Iranian version of the female sexual distress scale-revised in women
- 2014
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Ingår i: Journal of Sexual Medicine. - : Oxford University Press (OUP). - 1743-6095 .- 1743-6109. ; 11:4, s. 995-1004
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Several tools for the assessment of sexuality-related distress are now available. The Female Sexual Distress Scale (FSDS) and its revised version (FSDS-R) are extensively validated and among the most widely used tools to measure sexually related personal distress.AIM:The aim of the study was to determine the psychometric properties of the Iranian version of the FSDS-R in a population sample of Iranianwomen.METHODS:A total of 2,400 married and potentially sexually active women were recruited and categorized into three groups including (i) a healthy control group; (ii) a group of women with hypoactive sexual desire disorder (HSDD); and (iii) a group of women suffering from other female sexualdysfunction (FSD). Participants were asked to complete a set of questionnaires including the Iranian version of the Female Sexual Function Index (FSFI-IV), the FSDS-R, and the Hospital Anxiety and Depression Scale.MAIN OUTCOME MEASURES:Sexuality-related distress and FSD as assessed by the Iranian version of the FSDS-R and the FSFI-IV are the main outcome measures.RESULTS:Internal consistencies and test-retest reliability of the FSDS-R across the three assessments points for the three groups were >0.70. The FSDS-R correlated significantly with anxiety, depression, and the FSFI total score. Significant differences in the FSDS-R scores were found between healthy women, women with HSDD, and women with other types of FSD. Factor analysis of the FSDS-R yielded a single-factor model with an acceptable fit.CONCLUSIONS:The Persian version of the FSDS-R is a valid and reliable instrument for the assessment of sexuality-related distress in Iranianwomen and can be used to screen patients with HSDD.
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| 6. |
- Pakpour, Amir H., et al.
(författare)
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Psychometric properties of the Iranian version of the premature ejaculation diagnostic tool
- 2014
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Ingår i: Sexual Medicine. - : Oxford University Press (OUP). - 2050-1161. ; 2:1, s. 31-40
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionPremature ejaculation (PE) is one of the most prevalent male sexual problems. The Premature Ejaculation Diagnostic Tool (PEDT) is a suitable patient-reported outcome measure for the assessment of PE.AimTo examine the psychometric proporties of a translated and culturally adapted version of the PEDT in a sample of Iranian men suffering from PE.MethodsTwo independent samples were compared, one including patients with PE based on the DSM-IV-TR criteria (n = 269) and the other including healthy men without PE (n = 289). A backward–forward translation procedure was used to translate the PEDT into Persian. Both samples were asked to fill in the PEDT twice—at baseline and 4 weeks later.Main Outcome MeasuresInternal consistency, test–retest reliability, convergent validity, factor structure, measurement invariance across sexual health status (i.e., between men with and without PE).ResultsMean ages of men without and with PE were 34.9 and 35.3 years, respectively. Cronbach's alpha coefficient for the total PEDT score was 0.89. All items and the total score were remarkably consistent between the two measurement points. All five PEDT items correlated at r = 0.40 or greater with their own scale, indicating good convergent validity. There was a high and significant correlation (r = −0.82, P < 0.001) between the PEDT score and IELT. Healthy men reported lower scores (fewer complaints) on the PEDT compared with the PE group. A single-factor model was found to be best-fitting in the exploratory factor analysis; this was confirmed by confirmatory factor analysis. The PEDT was invariant across sexual health status and perceived similarly by men with and without PE.ConclusionThe results provide evidence for good reliability and validity of the Iranian version of the PEDT. The questionnaire therefore represents a suitable tool for screening PE in Iranian men.
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