Dichromacy: Color Vision Impairment and Consanguinity in Heterogenous Population of Pakistan

Background and Objectives: Dichromacy, an X-linked recessive disorder is identified worldwide, more in males than females. In European Caucasians, its incidence is 8% in males and 0.5% in females. In India, it is 8.73% in males and 1.69% in females, and in Iran, it is 8.18% in males and 0.43% in females. Population based epidemiological data about dichromacy in different ethnic groups in Pakistan is not available. The aim of this study was to find out the population prevalence of inherited red-green dichromacy in a heterogenous population of the district of Chiniot, Punjab, Pakistan, and to determine the impact of consanguinity and ethnicity. Methods: In this cross-sectional study, boys and girls of the higher secondary schools were examined in the three tehsils of district Chiniot. Pseudoisochromatic Ishihara Test has been employed for detection of dichromacy in the study population. The sample size was calculated statistically as 260, which was expanded to 705 and divided by population density of the three tehsils. Results: Screening of 359 males and 346 females revealed 19 (5.29%) dichromat males and only 2 (0.58%) females. The study population belonged to 23 castes / isonym groups. The consanguinity found in the district of Chiniot is 84.82% and in the dichromat families, it is 85.71%, of which 52.37% are first cousin. Interpretation & Conclusion: The study has shown that the incidence of dichromacy could be reduced through genetic counselin

Genetic analysis of mitochondrial DNA control region variations in four tribes of Khyber Pakhtunkhwa, Pakistan

Due to its geo strategic position at the crossroad of Asia, Pakistan has gained crucial importance of playing its pivotal role in subsequent human migratory events, both prehistoric and historic. This human movement became possible through an ancient overland network of trails called "The Silk Route" linking Asia Minor, Middle East China, Central Asia and Southeast Asia. This study was conducted to analyze complete mitochondrial control region samples of 100 individuals of four major Pashtun tribes namely, Bangash, Khattak, Mahsuds and Orakzai in the province of Khyber Pakhtunkhwa, Pakistan. All Pashtun tribes revealed high genetic diversity which is comparable to the other Central Asian, Southeast Asian and European populations. The configuration of genetic variation and heterogeneity further unveiled through Multidimensional Scaling, Principal Component Analysis and phylogenetic analysis. The results revealed that Pashtun are the composite mosaic of West Eurasian ancestry of numerous geographic origin. They received substantial gene flow during different invasive movements and have a high element of the Western provenance. The most common haplogroups reported in this study are: South Asian haplogroups M (28%) and R (8%); whereas, West Asians haplogroups are present, albeit in high frequencies (67%) and widespread over all; HV (15%), U (17%), H (9%), J (8%), K (8%), W (4%), N (3%) and T (3%). Moreover, we linked the unexplored genetic connection between Ashkenazi Jews and Pashtun. The presence of specific haplotypes J1b (4%) and K1a1b1a (5%) pointed to a genetic connection of Jewish conglomeration in Khattak tribe. This was a result of an ancient genetic influx in the early Neolithic period that led to the formation of a diverse genetic substratum in present day Pashtun

Serotonin transporter (5-HTTLPR) genotypes and trinucleotide repeats of androgen receptor exert a combinatorial effect on hormonal milieu in patients with lifelong premature ejaculation

WOS: 000453888600017PubMed ID: 30019487Premature ejaculation is one of the most common sexual disorders in men due to uncontrolled modulation of spinal reflexes controlled by cortico-limbic centers in the brain. In this study, we investigate the combinatorial effects of trinucleotide repeats of androgen receptor and allelic variants of the 5-HTTLPR gene on sex steroids, hypophyseal hormones, sexual performance, and premature ejaculation assessment parameters among evidence-based lifelong premature ejaculation subjects. A total of 271 outpatients (age 26.6 +/- 1.9) consulting for evidence-based lifelong premature ejaculatory dysfunction were selected in this study. The control group consists of 155 men with normal IELT (>4 min). The study revealed that the subjects who have the highest (>= 26) CAG stretches depicted a significantly higher serum oxytocin levels (102.1 pg/ml; n = 126, p = 26) CAG repeats was homozygous for S alleles (SS), 45 (35.7%) was homozygous for L allele (LL), and 48 (38%) had the L/S or S/L genotype of 5-HTTLPR gene. Homozygous (SS) alleles have a significant positive correlation (r = 0.44, p < 0.0001) with the high score of BDI-II (39.1, n = 126, p < 0.001). However, LL alleles have shown a significant positive correlation with PEDT (r = 0.46, p < 0.001) and negative correlation with self-estimated IELT and intercourse satisfaction (r = -0.35, p < 0.001). The innovative study design elaborates that androgen receptor trinucleotide repeats and 5-HTTLPR genotypes have combinatorial impact on hormonal milieu and sexual function regarding evidence-based lifelong premature ejaculatory dysfunction patients