Dataset Information

Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.

ABSTRACT: Traits related to primary and secondary sexual characteristics greatly impact females during puberty and day-to-day adult life. Therefore, we performed a GWAS analysis of 11,348 Japanese female volunteers and 22 gynecology-related phenotypic variables, and identified significant associations for bust-size, menstrual pain (dysmenorrhea) severity, and menstrual fever. Bust-size analysis identified significant association signals in CCDC170-ESR1 (rs6557160; P?=?1.7?×?10-16) and KCNU1-ZNF703 (rs146992477; P?=?6.2?×?10-9) and found that one-third of known European-ancestry associations were also present in Japanese. eQTL data points to CCDC170 and ZNF703 as those signals' functional targets. For menstrual fever, we identified a novel association in OPRM1 (rs17181171; P?=?2.0?×?10-8), for which top variants were eQTLs in multiple tissues. A known dysmenorrhea signal near NGF replicated in our data (rs12030576; P?=?1.1?×?10-19) and was associated with RP4-663N10.1 expression, a putative lncRNA enhancer of NGF, while a novel dysmenorrhea signal in the IL1 locus (rs80111889; P?=?1.9?×?10-16) contained SNPs previously associated with endometriosis, and GWAS SNPs were most significantly associated with IL1A expression. By combining regional imputation with colocalization analysis of GWAS/eQTL signals along with integrated annotation with epigenomic data, this study further refines the sets of candidate causal variants and target genes for these known and novel gynecology-related trait loci.

SUBMITTER: Hirata T

PROVIDER: S-EPMC5981393 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.

Hirata Tetsuya T Koga Kaori K Johnson Todd A TA Morino Ryoko R Nakazono Kazuyuki K Kamitsuji Shigeo S Akita Masanori M Kawajiri Maiko M Kami Azusa A Hoshi Yuria Y Tada Asami A Ishikawa Kenichi K Hine Maaya M Kobayashi Miki M Kurume Nami N Fujii Tomoyuki T Kamatani Naoyuki N Osuga Yutaka Y

Scientific reports 20180531 1

Traits related to primary and secondary sexual characteristics greatly impact females during puberty and day-to-day adult life. Therefore, we performed a GWAS analysis of 11,348 Japanese female volunteers and 22 gynecology-related phenotypic variables, and identified significant associations for bust-size, menstrual pain (dysmenorrhea) severity, and menstrual fever. Bust-size analysis identified significant association signals in CCDC170-ESR1 (rs6557160; P = 1.7 × 10<sup>-16</sup>) and KCNU1-ZNF ...[more]

PMID: 29855537

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Project description:IntroductionDysmenorrhea is a physical and mental burden for women, negatively affecting health-related quality of life (HRQL) and work productivity. However, data on HRQL and work productivity of Japanese women are scarce.MethodsIn this prospective observational study, 397 Japanese women received low-dose estrogen/progestin (LEP) or non-LEP treatment (non-steroidal anti-inflammatory drugs or Chinese herbal medicines) for primary/secondary dysmenorrhea and completed survey questionnaires online regarding menstrual symptoms, HRQL, and work productivity. Regression analysis was performed to compare the groups and evaluate outcomes over time using the paired t test. Subgroup analysis was performed using stratification by patient background, and correlations between improvement in menstrual symptoms/HRQL and work productivity were investigated using Spearman's rank correlation coefficient.ResultsSignificant reductions in the modified Menstrual Distress Questionnaire (mMDQ) total score were shown in the LEP group (n = 251) (P < 0.01), but not the non-LEP group (n = 146). Significant improvements in HRQL, measured by the 36-Item Short-Form Health Survey v2.0 (SF-36v2.0), were shown in the LEP group, but not the non-LEP group. Improvements were seen in mental component summary and 7/8 domains (role physical, bodily pain, general health, role emotional, mental health, vitality, and social functioning) in the LEP group, but not the non-LEP group. There were no differences in the physical component summary and role functioning in either group. Improvements in work productivity, measured by the modified Work Productivity and Activity Impairment Questionnaire (mWPAI), were greater in the LEP group vs. non-LEP group. Regression analysis showed differences in improvements between the groups in the mMDQ total score, SF-36v2.0, and mWPAI. A correlation between mMDQ or HRQL and work productivity was seen.ConclusionIn Japanese women, dysmenorrhea is associated with reduced HRQL and work productivity. In real-world clinical practice, improvements in physical and mental menstrual symptoms, HRQL, and work productivity were observed with LEP treatment.Trial registrationNCT04607382 (ClinicalTrials.gov).

Dataset Information

Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.

Publications

Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.

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